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
ANKRD30A	91074	broad.mit.edu	37	10	37442521	37442521	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	ENST00000374660.1	+	13	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274000													15	95					1.33834e-09	1.38884e-09	0.557998	1	0
LAMA3	3909	broad.mit.edu	37	18	21364088	21364088	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	ENST00000313654.9	+	12	1811	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	524	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATACCTGCCGCTCTGGTTT	0.498000													26	153					0	0	0.654019	0	0
GPR110	266977	broad.mit.edu	37	6	46977421	46977421	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr6:46977421C>T	ENST00000371253.2	-	11	1965	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	584					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATTTTACAACGGGGAAGATT	0.428000													7	73					0	0	0.335167	0	0
AP000525.9	0	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs143820047	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393000													4	12					0	0	0.150653	0	0
ENPP2	0	broad.mit.edu	37	8	120628508	120628508	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	ENST00000427067.2	-	8	942	c.762A>T	c.(760-762)caA>caT	p.Q254H	ENPP2_ENST00000075322.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	258	Substrate binding (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378000													10	62					0	0	0.361761	0	0
OR5A1	219982	broad.mit.edu	37	11	59211138	59211138	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	ENST00000302030.2	+	1	522	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542000													44	294					0	0	0.870114	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	ENST00000427715.2	+	7	840	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527000													17	89					0	0	0.539581	0	0
SLC43A2	124935	broad.mit.edu	37	17	1516558	1516558	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	ENST00000571650.1	-	5	738	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC43A2_ENST00000382147.4_Silent_p.S144S|SLC43A2_ENST00000301335.4_Silent_p.S144S			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	144					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552000													4	25					0	0	0.217242	0	0
CTSZ	1522	broad.mit.edu	37	20	57576621	57576621	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	ENST00000217131.5	-	3	504	c.386C>T	c.(385-387)gCt>gTt	p.A129V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	129			A -> R (requires 2 nucleotide substitutions).		proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602000													11	57					0	0	0.387290	0	0
CHRM1	1128	broad.mit.edu	37	11	62677198	62677198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	ENST00000306960.3	-	2	1916	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	459					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TATCAGCATTGGCGGGAGGGA	0.682000													19	95					0	0	0.557998	0	0
FUBP1	8880	broad.mit.edu	37	1	78435640	78435640	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	ENST00000370767.1	-	2	267	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Y60*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	60					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTGTCCCCCATAACCATAGT	0.303000			"""F, N"""		oligodendroglioma								13	29					0	0	0.457914	0	0
PCSK2	5126	broad.mit.edu	37	20	17339014	17339014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	ENST00000262545.2	+	3	640	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	109					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAAAAAAGCGAGGTTACAG	0.398000													7	54					0	0	0.248553	0	0
ANAPC5	51433	broad.mit.edu	37	12	121769171	121769171	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:121769171G>A	ENST00000535482.1	-	0	23				ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000544314.1_Intron|ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000261819.3_Silent_p.H337H|ANAPC5_ENST00000536366.1_Intron			Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGACACACGTGATCGTTGG	0.488000													9	27					0	0	0.335167	0	0
AKAP3	10566	broad.mit.edu	37	12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	ENST00000545990.2	-	5	1071	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	183					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478000													25	118					0	0	0.654019	0	0
FUBP1	8880	broad.mit.edu	37	1	78435643	78435643	+	Silent	SNP	A	A	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	ENST00000370767.1	-	2	264	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370768.2_Silent_p.G59G			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	59					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCCCATAACCATAGTCAT	0.308000			"""F, N"""		oligodendroglioma								13	31					0	0	0.479597	0	0
PTPRH	5794	broad.mit.edu	37	19	55693461	55693461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	ENST00000376350.3	-	19	3143	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1041	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1041E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCGGACTGCAGCTGCCGG	0.607000													7	94					0	0	0.248553	0	0
DMBX1	127343	broad.mit.edu	37	1	46976279	46976279	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:46976279C>T	ENST00000371956.4	+	2	316	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	DMBX1_ENST00000360032.3_Missense_Mutation_p.R96C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	101	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGTGATGCGTGAGAGGCT	0.602000													3	29					0	0	0.184627	0	0
RYR1	6261	broad.mit.edu	37	19	39055678	39055678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	ENST00000355481.4	+	90	12820	c.12689G>A	c.(12688-12690)aGt>aAt	p.S4230N	RYR1_ENST00000359596.3_Missense_Mutation_p.S4235N|RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4235					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCTTCGTGAGTTTCTGCGAG	0.657000													4	1					0	0	0.150653	0	0
ARMC3	219681	broad.mit.edu	37	10	23248333	23248333	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	ENST00000298032.5	+	6	451	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	123							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAAGAAGTAGTTATCCA	0.363000													4	43					0	0	0.150653	0	0
EDEM3	80267	broad.mit.edu	37	1	184723669	184723669	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	ENST00000318130.8	-	1	378	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_ENST00000367512.3_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	38					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCGCCGTCCACACGGAG	0.692000													4	42					0	0	0.184627	0	0
COL4A1	1282	broad.mit.edu	37	13	110813712	110813712	+	Silent	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	ENST00000375820.4	-	49	4588	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1489	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTGCCGGCCGTGCCTAGAC	0.438000													3	17					0	0	0.115264	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								9	64					0	0	0.335167	0	0
AC093642.5	0	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	A	G	rs117509304	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:243061143A>G	ENST00000456398.1	+	0	491																											CTTGGGAGAAACCTTTAATCG	0.358000													4	48					0	0	0.150653	0	0
TMEM189	387521	broad.mit.edu	37	20	48700714	48700714	+	Silent	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	ENST00000557021.1	-	7	1078	c.918A>G	c.(916-918)agA>agG	p.R306R	UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Silent_p.R39R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000371674.3_Silent_p.R83R|UBE2V1_ENST00000340309.3_Silent_p.R106R	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTGTTACAAATCTTACAAAGG	0.358000													23	108					0	0	0.608945	0	0
UBR5	51366	broad.mit.edu	37	8	103297901	103297901	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	ENST00000520539.1	-	39	5930	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1775					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGGTAACTGCTGGCGTTGCT	0.463000													19	77					0	0	0.557998	0	0
EPHX1	2052	broad.mit.edu	37	1	226032903	226032903	+	Missense_Mutation	SNP	C	C	T	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	ENST00000366837.4	+	9	1419	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	408			T -> M (in dbSNP:rs45495897).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.T408K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567000													9	84					0	0	0.361761	0	0
DOCK5	80005	broad.mit.edu	37	8	25181376	25181376	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	ENST00000276440.7	+	17	1672	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	543	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532000													5	12					0	0	0.184627	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841797	8841797	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	ENST00000324060.2	+	1	482	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547000													24	98					0	0	0.667858	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251116	160251116	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:160251116G>A	ENST00000264431.4	+	6	1192	c.773G>A	c.(772-774)cGa>cAa	p.R258Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	258					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAGAACACCGAGAACTTGAT	0.413000													4	72					0	0	0.150653	0	0
HERC2P9	0	broad.mit.edu	37	15	28929385	28929385	+	RNA	SNP	T	T	C	rs692172	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr15:28929385T>C	ENST00000528584.1	+	0	1922					NR_036443.1																						CACGCTGCGGTGGTCTTGCAT	0.453000													3	37					0	0	0.150653	0	0
REM2	161253	broad.mit.edu	37	14	23354154	23354154	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	ENST00000267396.4	+	2	498	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_ENST00000536884.1_Silent_p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	125					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607000													15	49					0	0	0.457914	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592891	101592891	+	Missense_Mutation	SNP	G	G	A	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	ENST00000310954.6	-	8	1683	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	466					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)		AAAACTCAGCGTAAGTGCAAC	0.353000													5	45					0	0	0.217242	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186863284	186863284	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	ENST00000367466.3	+	5	471	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	107	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACAGCAACATTTACTGTATC	0.333000													20	46					0	0	0.654019	0	0
FAM154A	158297	broad.mit.edu	37	9	18928829	18928829	+	Missense_Mutation	SNP	C	C	T	rs117915008	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	ENST00000380534.4	-	4	925	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	216										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507000													15	73					0	0	0.500413	0	0
CCDC158	339965	broad.mit.edu	37	4	77317545	77317545	+	Silent	SNP	A	A	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	ENST00000388914.3	-	3	317	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Silent_p.P55P	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358000													5	57					0	0	0.184627	0	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													2	7					0	0	0.115264	0	0
PADI2	11240	broad.mit.edu	37	1	17413096	17413096	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	ENST00000375486.4	-	7	817	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_ENST00000444885.2_Silent_p.S170S|PADI2_ENST00000375481.1_Missense_Mutation_p.V252M	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	252					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617000													12	59					0	0	0.411799	0	0
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	rs147592698	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592000													6	29					0	0	0.248553	0	0
AP1G2	8906	broad.mit.edu	37	14	24035874	24035874	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	ENST00000308724.5	-	2	981	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	76					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527000													18	114					0	0	0.557998	0	0
UBXN8	7993	broad.mit.edu	37	8	30601805	30601805	+	RNA	SNP	C	C	T	rs2278092	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:30601805C>T	ENST00000519246.1	+	0	115							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GTAAGTGTGACTTTTTCCCTT	0.532000													4	18					0	0	0.150653	0	0
AGO1	26523	broad.mit.edu	37	1	36379854	36379855	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:36379854_36379855insA	ENST00000373204.4	+	14	2025_2026	c.1812_1813insA	c.(1810-1815)ggaaaafs	p.GK604fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.GK529fs	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CAGGGGATGGGAAAAAACCTTC	0.480													19	65	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													4	4	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	ENST00000312358.7	+	30	7165_7166	c.7033_7034delCT	c.(7033-7035)gfs	p.L2345fs	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGGG	0.698													7	14	---	---	---	---					
SFR1	119392	broad.mit.edu	37	10	105882649	105882653	+	Frame_Shift_Del	DEL	AATAT	AATAT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:105882649_105882653delAATAT	ENST00000336358.5	+	1	645_649	c.126_130delAATAT	c.(124-132)acatfs	p.TIY42fs	SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron|SFR1_ENST00000463224.1_Intron			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										ACACCAATACAATATATTATTTGAT	0.298													4	7	---	---	---	---					
RP11-114H24.7	0	broad.mit.edu	37	15	78212706	78212711	+	RNA	DEL	AGGGCT	AGGGCT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr15:78212706_78212711delAGGGCT	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							gccccttaaaagggctagggctaggc	0.510													3	4	---	---	---	---