Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NDST3	9348	broad.mit.edu	37	4	118975505	118975505	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:118975505G>A	uc003ibx.3	+	1	843	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	NDST3_uc011cgf.1_Missense_Mutation_p.R147Q|NDST3_uc003ibw.3_Missense_Mutation_p.R147Q	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	147	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCTGGAATCGAAGCCTTCTA	0.343000														20			15		0	0	0.033300	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195561	80195561	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:80195561C>T	uc002kea.3	+	3	1065	c.915C>T	c.(913-915)aaC>aaT	p.N305N	SLC16A3_uc021ufm.1_Silent_p.N305N|SLC16A3_uc002keb.3_Silent_p.N305N|SLC16A3_uc002kec.3_Silent_p.N305N|SLC16A3_uc002ked.3_Silent_p.N305N|SLC16A3_uc021ufn.1_Silent_p.N305N|SLC16A3_uc021ufo.1_Silent_p.N305N	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	305					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGTTCTTCAACGGCCTCGCGG	0.652000														65			29		0	0	0.144211	0	0
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	T	T	rs139236063		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					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.G598V(31)|p.A597T(1)|p.A597P(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)	TGCCCGGCAGGAGTCATGGGA	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				40			902		0	0	0.139131	1	0
NLRC4	58484	broad.mit.edu	37	2	32476671	32476671	+	Splice_Site	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:32476671C>T	uc002roi.3	-	4	524	c.263_splice	c.e4-1	p.S88_splice	NLRC4_uc021vfq.1_Splice_Site_p.S88_splice|NLRC4_uc002roj.2_Splice_Site_p.S88_splice|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	88	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAAAAGACCTATTAGAGAA	0.448000														27			22		0	0	0.069288	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														16			5		0	0	0.014758	0	0
CCNF	899	broad.mit.edu	37	16	2499351	2499351	+	Missense_Mutation	SNP	C	A	A	rs151164394		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2499351C>A	uc002cqd.1	+	11	1375	c.1287C>A	c.(1285-1287)caC>caA	p.H429Q	CCNF_uc002cqe.1_Missense_Mutation_p.H121Q	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	429					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAACCCAGCACCTGTGCAGCT	0.662000														20			13		0.00010058	0.000105609	0.093190	1	0
MTMR6	9107	broad.mit.edu	37	13	25840284	25840284	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:25840284C>T	uc001uqf.4	-	3	764	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MTMR6_uc001uqe.1_Missense_Mutation_p.A149T	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	149	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCCGGTTGGCATCAGACAAC	0.453000														23			3		0	0	0.115264	0	0
ZNF323	64288	broad.mit.edu	37	6	28294587	28294587	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:28294587C>G	uc003nlc.3	-	3	966	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	ZNF323_uc003nld.3_Missense_Mutation_p.E193Q|ZNF323_uc010jra.3_Missense_Mutation_p.E193Q|ZNF323_uc003nla.3_Missense_Mutation_p.E193Q|ZNF323_uc003nlb.3_Missense_Mutation_p.E34Q|ZNF323_uc010jrb.3_Missense_Mutation_p.E34Q|ZNF323_uc021yrs.1_Missense_Mutation_p.E193Q|ZNF323_uc021yrt.1_Missense_Mutation_p.E34Q	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	193					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTTAAGATTTCTTGCTTTGAT	0.363000														41			22		0	0	0.069288	0	0
LUC7L2	51631	broad.mit.edu	37	7	139030301	139030301	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:139030301A>C	uc011kqt.2	+	1	427	c.193A>C	c.(193-195)Acc>Ccc	p.T65P	LUC7L2_uc011kqs.2_Intron|LUC7L2_uc003vuw.4_Missense_Mutation_p.T65P	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CCAAGCTGCCACCTATCTCTG	0.512000														63			59		0	0	0.139131	0	0
GK2	2712	broad.mit.edu	37	4	80327904	80327904	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:80327904A>G	uc003hlu.3	-	0	1469	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	484					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAATCGTTCCATCCTGAGAAC	0.507000														63			53		0	0	0.139131	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904139	21904139	+	RNA	SNP	T	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:21904139T>G	uc002gza.2	+	0		c.78T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccgagcaggatgaggaaacca	0.692000														37			3		0	0	0.009096	0	0
MDGA2	161357	broad.mit.edu	37	14	47426601	47426601	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:47426601C>T	uc001wwj.4	-	8	2223	c.2065G>A	c.(2065-2067)Ggg>Agg	p.G689R	MDGA2_uc001wwi.4_Missense_Mutation_p.G391R|MDGA2_uc010ani.3_Missense_Mutation_p.G180R	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	620					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGCATCTCCCAGCTCCAGCT	0.358000														22			14		0	0	0.119110	0	0
BC071797	0	broad.mit.edu	37	21	9768984	9768984	+	RNA	SNP	T	C	C	rs147966096	by1000genomes	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr21:9768984T>C	uc011abu.2	+	9		c.959T>C								Homo sapiens, clone IMAGE:4720764, mRNA.																		CTTAAGGACGTTAAAATTGTT	0.318000														14			3		0	0	0.115264	0	0
R3HDML	140902	broad.mit.edu	37	20	42979326	42979326	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr20:42979326A>G	uc002xls.1	+	4	828	c.656A>G	c.(655-657)tAc>tGc	p.Y219C		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	219						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTCCCCGTACAAGATGGGA	0.532000														39			33		0	0	0.050027	0	0
ADH1A	124	broad.mit.edu	37	4	100205899	100205899	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:100205899C>T	uc003hur.2	-	3	435	c.321G>A	c.(319-321)ccG>ccA	p.P107P	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Silent_p.P107P	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTTGCTCTCCGGGTTTTTAC	0.418000														26			18		0	0	0.043863	0	0
AIPL1	23746	broad.mit.edu	37	17	6329143	6329143	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:6329143C>T	uc002gcp.3	-	5	887	c.792G>A	c.(790-792)gtG>gtA	p.V264V	AIPL1_uc021toq.1_Silent_p.V225V|AIPL1_uc002gcq.3_Silent_p.V204V|AIPL1_uc002gcr.3_Silent_p.V201V|AIPL1_uc010clk.3_Silent_p.V242V|AIPL1_uc010cll.3_Silent_p.V240V|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	264					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTAGGCCTTCACGATGCCTG	0.657000														4			21		0	0	0.069288	0	0
MYH6	4624	broad.mit.edu	37	14	23855275	23855275	+	Silent	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:23855275G>A	uc001wjv.3	-	33	5096	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1675					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGCTCCACGATGGCGATGT	0.637000														28			18		0	0	0.055883	0	0
LCT	3938	broad.mit.edu	37	2	136566631	136566631	+	Missense_Mutation	SNP	C	T	T	rs146467199	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:136566631C>T	uc002tuu.1	-	7	3297	c.3286G>A	c.(3286-3288)Gcc>Acc	p.A1096T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801).	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A1096A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGATGACGGCGTGGGCTATC	0.552000														29			18		0	0	0.038395	0	0
SETX	23064	broad.mit.edu	37	9	135202372	135202372	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:135202372C>T	uc004cbk.3	-	9	4796	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	SETX_uc004cbj.3_Missense_Mutation_p.R1157Q|SETX_uc010mzt.3_Missense_Mutation_p.R1157Q	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1538					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAACTGAGGCCGACTTACAGA	0.368000														28			23		0	0	0.076483	0	0
PLAG1	5324	broad.mit.edu	37	8	57079207	57079207	+	Silent	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr8:57079207G>A	uc003xsq.4	-	2	1549	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	PLAG1_uc003xsr.4_Silent_p.G366G|PLAG1_uc010lyi.3_Silent_p.G366G|PLAG1_uc010lyj.3_Silent_p.G284G|PLAG1_uc022aur.1_Silent_p.G284G	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	366	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(3)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAGAGGGCACGCCACCTTGTA	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									66			92		0	0	0.139131	0	0
SPTB	6710	broad.mit.edu	37	14	65258514	65258514	+	Silent	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:65258514G>A	uc001xht.3	-	13	2778	c.2727C>T	c.(2725-2727)ctC>ctT	p.L909L	SPTB_uc001xhr.3_Silent_p.L909L|SPTB_uc001xhs.3_Silent_p.L909L|SPTB_uc001xhu.3_Silent_p.L909L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	909					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTTGGCAGCGAGGTTCACAC	0.557000														21			19		0	0	0.049695	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576444	158576444	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:158576444C>A	uc010pio.2	+	0	216	c.216C>A	c.(214-216)tgC>tgA	p.C72*		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGAGACCTGCTACACTTTGG	0.527000														142			85		9.90312e-32	1.1141e-31	0.139131	1	0
EDAR	10913	broad.mit.edu	37	2	109527457	109527457	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:109527457C>T	uc010fjn.3	-	7	1148	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	EDAR_uc010yws.2_Missense_Mutation_p.A201T|EDAR_uc002teq.4_Missense_Mutation_p.A201T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	201					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						aggacgatggcgatggccatg	0.577000														21			16		0	0	0.132662	0	0
FGA	2243	broad.mit.edu	37	4	155507658	155507658	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:155507658C>T	uc003iod.1	-	4	981	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_uc003ioe.1_Missense_Mutation_p.R308Q|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	308					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R308Q(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572000														104			85		0	0	0.139131	0	0
C12orf74	338809	broad.mit.edu	37	12	93100538	93100538	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:93100538G>A	uc001tch.2	+	1	582	c.131G>A	c.(130-132)cGc>cAc	p.R44H	C12orf74_uc001tci.3_Missense_Mutation_p.R44H|C12orf74_uc021rbt.1_Missense_Mutation_p.R44H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	44										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCCCAGGCCGCATCTCCACC	0.642000														49			3		0	0	0.115264	0	0
KCNH1	3756	broad.mit.edu	37	1	210856965	210856965	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:210856965C>G	uc001hib.2	-	10	2798	c.2628G>C	c.(2626-2628)aaG>aaC	p.K876N	KCNH1_uc001hic.2_Missense_Mutation_p.K849N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	876					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGAGTCTGTCTTCTTCAGTG	0.592000														49			24		0	0	0.083992	0	0
DNAH1	25981	broad.mit.edu	37	3	52428569	52428569	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:52428569G>A	uc011bef.2	+	66	10976	c.10715G>A	c.(10714-10716)cGa>cAa	p.R3572Q	DNAH1_uc003ddv.3_Missense_Mutation_p.R430Q	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3637					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCTTGGCGAGACATCCTA	0.577000														36			20		0	0	0.055883	0	0
MSLNL	401827	broad.mit.edu	37	16	823215	823215	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:823215A>G	uc002cjz.1	-	9	2053	c.2053T>C	c.(2053-2055)Tgc>Cgc	p.C685R		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	334					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGAGGATGCAGCCATCCAGG	0.632000														32			24		0	0	0.083992	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230409	2230409	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2230409C>T	uc010bsg.1	-	17	2992	c.2960G>A	c.(2959-2961)aGt>aAt	p.S987N		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	987	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCCAGGTCACTGGCCCGCCG	0.716000														6			6		0	0	0.029380	0	0
MYT1L	23040	broad.mit.edu	37	2	1843079	1843079	+	Silent	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:1843079G>A	uc002qxe.3	-	20	3749	c.2922C>T	c.(2920-2922)agC>agT	p.S974S	MYT1L_uc002qxd.3_Silent_p.S972S|MYT1L_uc010ewk.3_5'UTR	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	974					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCCGGAGGCGCTGCGATGGG	0.632000														37			29		0	0	0.144211	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813583	88813583	+	Missense_Mutation	SNP	G	A	A	rs3828551	by1000genomes	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:88813583G>A	uc010iko.1	+	1	527	c.527G>A	c.(526-528)cGg>cAg	p.R176Q						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GAAGAGAGGCGGGTCAAAGAA	0.448000														72			4		0	0	0.021553	0	0
OR9G9	390174	broad.mit.edu	37	11	56468437	56468437	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr11:56468437G>A	uc010rjn.2	+	0	574	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGGCGAGAAGGGCGGCTATAA	0.478000														56			25		0	0	0.083992	0	0
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:117723945C>T	uc001twn.2	-	5	1965	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_uc021ren.1_Silent_p.S82S|NOS1_uc021reo.1_Silent_p.S82S|NOS1_uc001twm.2_Silent_p.S418S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	418					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562000														51			31		0	0	0.059317	0	0
TAAR5	9038	broad.mit.edu	37	6	132910545	132910545	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:132910545C>T	uc003qdk.2	-	0	333	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	94					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587000														47			27		0	0	0.099896	0	0
ZMYM2	7750	broad.mit.edu	37	13	20635254	20635254	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:20635254T>C	uc001umr.3	+	17	3099	c.2801T>C	c.(2800-2802)aTt>aCt	p.I934T	ZMYM2_uc001ums.3_Missense_Mutation_p.I934T|ZMYM2_uc021rgy.1_Missense_Mutation_p.I934T|ZMYM2_uc001umt.3_Missense_Mutation_p.I934T|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Missense_Mutation_p.I314T|ZMYM2_uc001umw.3_Missense_Mutation_p.I387T	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CCTGCAGCAATTGAGGAGCTA	0.418000														8			12		0	0	0.105934	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612622	96612622	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr10:96612622G>A	uc010qnz.2	+	8	1424	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CYP2C19_uc010qny.2_Missense_Mutation_p.G453E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	475					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTGTCAATGGATTTGCTTCT	0.473000														8			40		0	0	0.124865	0	0
TPPP	11076	broad.mit.edu	37	5	665358	665358	+	Silent	SNP	C	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:665358C>A	uc003jbg.4	-	2	1237	c.519G>T	c.(517-519)acG>acT	p.T173T	TPPP_uc003jbh.4_Silent_p.T173T	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	173					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGGGAGCCCGTGAACTTGG	0.632000														34			3		0.004672	0.00482518	0.115264	1	0
KRT6B	3854	broad.mit.edu	37	12	52842747	52842747	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:52842747T>C	uc001sak.3	-	5	1130	c.1082A>G	c.(1081-1083)gAg>gGg	p.E361G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	361	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCAGCTCCTCGTACTGCAG	0.537000														54			37		0	0	0.080422	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACCACCACACTATGTCGA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				2			27		0	0	0.108266	0	0
NUP155	9631	broad.mit.edu	37	5	37364077	37364077	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:37364077C>G	uc003jku.1	-	2	423	c.305G>C	c.(304-306)tGt>tCt	p.C102S	NUP155_uc003jkt.1_Missense_Mutation_p.C43S|NUP155_uc010iuz.1_Missense_Mutation_p.C102S	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	102					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGCAATTACACTGCATATC	0.373000														39			28		0	0	0.059317	0	0
FGD5	152273	broad.mit.edu	37	3	14861759	14861759	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:14861759G>C	uc003bzc.3	+	0	1291	c.1181G>C	c.(1180-1182)tGt>tCt	p.C394S	FGD5_uc011avk.2_Missense_Mutation_p.C394S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	394					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGCTTTGTGTGGCCAGTGT	0.617000														22			17		0	0	0.038395	0	0
NLRP9	338321	broad.mit.edu	37	19	56244772	56244772	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:56244772G>A	uc002qly.3	-	1	453	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	142						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCTAGCCGCAGCAGTATA	0.433000														52			36		0	0	0.059317	0	0
BC024173	0	broad.mit.edu	37	21	15399864	15399864	+	RNA	SNP	T	C	C	rs2298673	by1000genomes	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr21:15399864T>C	uc002yjk.3	+	0		c.123T>C			BC024173_uc002yjl.3_Non-coding_Transcript					Homo sapiens, clone IMAGE:4102980, mRNA.																		TGTGACCTGCTGGCATTGAAT	0.587000														39			3		0	0	0.115264	0	0
GUCA1B	2979	broad.mit.edu	37	6	42162502	42162502	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:42162502C>T	uc003orz.3	-	0	193	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	19	EF-hand 1.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCTGGAGCTCCGCCACATCTA	0.562000														8			6		0	0	0.021553	0	0
AP3S1	1176	broad.mit.edu	37	5	115177767	115177767	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:115177767C>T	uc003krl.3	+	0	149	c.33C>T	c.(31-33)caC>caT	p.H11H	AP3S1_uc003krk.3_5'UTR|ATG12_uc021ycr.1_5'Flank|ATG12_uc021ycs.1_5'Flank|ATG12_uc003krh.3_5'Flank|ATG12_uc003kri.3_5'Flank	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	11					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity	p.N10K(1)|p.N10H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TCAACAACCACGGGAAGCCGC	0.706000														4			6		0	0	0.021553	0	0
POLR2E	5434	broad.mit.edu	37	19	1090943	1090943	+	Silent	SNP	C	T	T			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:1090943C>T	uc002lre.4	-	3	470	c.393G>A	c.(391-393)ctG>ctA	p.L131L	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	131					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGCTGCAGAAACTGCT	0.667000														33			14		0	0	0.132662	0	0
PDE11A	50940	broad.mit.edu	37	2	178682596	178682596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:178682596G>A	uc002ulq.3	-	7	1951	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	PDE11A_uc002ulp.3_Nonsense_Mutation_p.R101*|PDE11A_uc002ulr.3_Nonsense_Mutation_p.R295*|PDE11A_uc002uls.1_Nonsense_Mutation_p.R187*|PDE11A_uc002ult.1_Nonsense_Mutation_p.R295*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.R187*	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	545	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAAAAAGTCGTTGATCTGCA	0.378000									Primary Pigmented Nodular Adrenocortical Disease, Familial					9			20		0	0	0.069288	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458314	20458314	+	Silent	SNP	G	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr22:20458314G>A	uc002zsd.4	-	0	3473	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GTAGCTGCATGGGAGCCATAC	0.602000														3			3		0	0	0.014758	0	0
TLR4	7099	broad.mit.edu	37	9	120475558	120475558	+	Silent	SNP	C	A	A			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:120475558C>A	uc004bjz.3	+	2	1443	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G	TLR4_uc004bkb.3_Silent_p.G184G|TLR4_uc004bka.3_Silent_p.G344G	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	384					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTAGAAATGGCTTGAGTTTCA	0.383000														30			19		1.96292e-10	2.16955e-10	0.055883	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68925146	68925146	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:68925146delG	uc003hdt.1	-	8	1105	c.1056delC	c.(1054-1056)accfs	p.T352fs	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	352	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAGTGCTTATGGTTTCCACTC	0.363													---	30	---	---	21	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	-	-	rs74661005	by1000genomes	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													---	6	---	---	3	---					
