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
TMEM217	221468	broad.mit.edu	37	6	37186593	37186593	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:37186593A>G	ENST00000336655.2	-	2	253	c.214T>C	c.(214-216)Tct>Cct	p.S72P	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S72P	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	72						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						GTGATGAAAGACAGGAAGAGG	0.438000													5	141					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43704748	43704748	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr21:43704748C>T	ENST00000398437.1	+	8	1399	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	ABCG1_ENST00000398449.3_Silent_p.C271C|ABCG1_ENST00000398457.2_Silent_p.C273C|ABCG1_ENST00000361802.2_Silent_p.C271C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.C379C|ABCG1_ENST00000347800.2_Silent_p.C268C|ABCG1_ENST00000343687.3_Silent_p.C282C			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	271	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCATTTGCACCATCCACC	0.642000													4	121					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353000													4	221					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1056823	1056823	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:1056823C>T	ENST00000382251.3	+	5	1565	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Silent_p.T412T|DMRT2_ENST00000358146.2_Silent_p.T412T|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	412					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGATCCAGACCACGAGAAGTG	0.577000													49	49					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48650342	48650342	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:48650342C>T	ENST00000376670.3	+	3	423	c.312C>T	c.(310-312)taC>taT	p.Y104Y	GATA1_ENST00000376665.3_Silent_p.Y104Y	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	104					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGGGGCTCTACCCTGCCTCAA	0.597000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								12	51					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708343	141708343	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:141708343G>A	ENST00000475668.2	+	3	219	c.165G>A	c.(163-165)ggG>ggA	p.G55G	MGAM_ENST00000549489.2_Silent_p.G55G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	55	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATCCTGGGACAACTGGTA	0.473000													4	26					0	0	1	0	0
MIR297	0	broad.mit.edu	37	4	111781769	111781769	+	RNA	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:111781769A>G	ENST00000401142.1	-	0	34					NR_030643.1																						atatatatgtatatacacata	0.328000													15	44					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	23					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321439	321439	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:321439C>T	ENST00000397770.3	-	11	725	c.708G>A	c.(706-708)gcG>gcA	p.A236A	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A|RGS11_ENST00000316163.5_Silent_p.A215A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647000													9	44					0	0	1	0	0
KNOP1	400506	broad.mit.edu	37	16	19726120	19726120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:19726120C>A	ENST00000219837.7	-	2	316	c.238G>T	c.(238-240)Gag>Tag	p.E80*	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		TCTACATGCTCCTCGCAAAGG	0.542000													13	51					0.0167234	0.0167234	1	1	0
SHKBP1	92799	broad.mit.edu	37	19	41096328	41096328	+	Splice_Site	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:41096328G>A	ENST00000291842.5	+	16	1817	c.1768_splice	c.e16+1	p.A590_splice	SHKBP1_ENST00000600733.1_Splice_Site_p.A565_splice	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	590						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCCCCTGGTACTCCCTG	0.682000													7	22					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221723	55221723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:55221723A>G	ENST00000275493.2	+	7	944	c.767A>G	c.(766-768)gAc>gGc	p.D256G	EGFR_ENST00000344576.2_Missense_Mutation_p.D256G|EGFR_ENST00000455089.1_Missense_Mutation_p.D211G|EGFR_ENST00000420316.2_Missense_Mutation_p.D256G|EGFR_ENST00000442591.1_Missense_Mutation_p.D256G|EGFR_ENST00000454757.2_Missense_Mutation_p.D203G|EGFR_ENST00000342916.3_Missense_Mutation_p.D256G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256					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 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 MAP kinase activity|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 stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D256A(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)	AAATTCCGAGACGAAGCCACG	0.587000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			42	64					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57504027	57504027	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:57504027C>T	ENST00000219252.5	+	7	932	c.594C>T	c.(592-594)ccC>ccT	p.P198P	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	198					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II 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|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGTGTACCCCAAGCCCGAGG	0.537000													13	17					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327274	57327274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:57327274T>C	ENST00000326441.9	-	10	2899	c.2536A>G	c.(2536-2538)Agt>Ggt	p.S846G	PEG3_ENST00000593695.1_Missense_Mutation_p.S720G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S846G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S722G|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	846					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S846G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATTGTGACTTCTTGGAGGT	0.433000													23	50					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714852	65714852	+	RNA	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:65714852G>A	ENST00000532620.1	+	0	787							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CATCCCTACTGGCAAAGGGGA	0.637000													6	18					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117267621	117267621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:117267621G>A	ENST00000003084.6	+	22	3646	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.E1111K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1172					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATGCCAACAGAAGGTAAACC	0.368000									Cystic Fibrosis				9	48					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43840498	43840498	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:43840498G>A	ENST00000389420.3	-	15	2096	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	ADAMTS20_ENST00000553158.1_Silent_p.H699H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	699	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTTAACACGTGATCACAAC	0.373000													8	15					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487200	36487200	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:36487200C>T	ENST00000342292.4	-	11	2272	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	751						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCCGGCGGCGGGAGGAGCC	0.697000													5	15					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063752	74063752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:74063752G>A	ENST00000370370.3	-	2	185	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	39	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						AGATCCGTCCGGGCCTGTTGG	0.612000													26	58					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105174336	105174336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:105174336C>T	ENST00000392634.4	+	8	1844	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	INF2_ENST00000330634.7_Missense_Mutation_p.R578C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	578	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAACGTGGCACGTGGTGAGGG	0.647000													10	25					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629398	1629398	+	Missense_Mutation	SNP	C	C	G	rs7125831		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:1629398C>G	ENST00000399685.1	-	1	295	c.218G>C	c.(217-219)tGc>tCc	p.C73S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	73	11 X 4 AA repeats of C-C-X-P.		C -> S (in dbSNP:rs7125831).			keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCCCCCTTGCAGCCCCCACA	0.677000													7	176					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74352724	74352724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:74352724G>A	ENST00000226355.3	+	5	616	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	175	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTGTCTTCGCCCCTACACT	0.398000													16	58					0	0	1	0	0
PCDHGA5	0	broad.mit.edu	37	5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587000													24	75					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60152680	60152680	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:60152680T>C	ENST00000300184.3	+	3	463	c.267T>C	c.(265-267)ttT>ttC	p.F89F	MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000530234.2_Silent_p.F89F|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	89						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGTACCCATTTTTAGGAGCTC	0.483000													45	115					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935602	47935602	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:47935602G>A	ENST00000236877.6	-	9	2606	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	SLC8A2_ENST00000539381.1_Silent_p.F200F|SLC8A2_ENST00000542837.1_Silent_p.F493F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	737					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCACACAGGCGAAGAGCACCT	0.652000													26	76					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656779	31656779	+	Splice_Site	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:31656779C>T	ENST00000375494.3	+	10	1149	c.1149_splice	c.e10+1	p.S383_splice		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	383					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AGCTGAACTCCGTGAGTGGTC	0.587000													14	32					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443000													6	366					0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667660	82667660	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:82667660G>A	ENST00000297265.4	+	3	617	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	142	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACAGGATATCGCCCAAGAAAT	0.378000													18	68					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:26387823C>T	ENST00000374272.3	-	3	473	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	112	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592000													7	28					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108008868	108008868	+	Missense_Mutation	SNP	G	G	A	rs151233634		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:108008868G>A	ENST00000280758.5	+	7	2458	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I	BTBD11_ENST00000420571.2_Missense_Mutation_p.V644I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V644I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V181I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	644						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATATCCATCCGTCCACCCCGA	0.413000													11	27					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720813	89720813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr10:89720813A>G	ENST00000371953.3	+	8	2321	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	322	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.N323fs*21(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TACTTTAACAAAAAATGATCT	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	35					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000320838.5_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542000													41	133					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508034	28508034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:28508034G>A	ENST00000564831.1	+	2	1705	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	APOBR_ENST00000431282.1_Missense_Mutation_p.V549I|APOBR_ENST00000328423.5_Missense_Mutation_p.V549I	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	549	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CACACACAGCGTCACCAAAGG	0.642000													5	7					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744925	54744925	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:54744925C>A	ENST00000440558.2	-	5	785	c.737G>T	c.(736-738)gGc>gTc	p.G246V	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G246V|LILRA6_ENST00000419410.2_Missense_Mutation_p.G246V|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Missense_Mutation_p.G246V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACATCAGAGCCACACTGGAG	0.652000													4	110					0.000602214	0.000621852	1	1	0
WISP2	8839	broad.mit.edu	37	20	43355905	43355905	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:43355905G>C	ENST00000372868.2	+	5	1053	c.710G>C	c.(709-711)tGc>tCc	p.C237S	RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.A155P|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C237S|WISP2_ENST00000471629.1_3'UTR			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	237	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGCCCTGCCCACCCTCC	0.677000													12	38					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20197969	20197969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:20197969C>A	ENST00000400331.5	-	5	2323	c.2015G>T	c.(2014-2016)gGt>gTt	p.G672V	MACC1_ENST00000332878.4_Missense_Mutation_p.G672V|MACC1_ENST00000589011.1_Missense_Mutation_p.G672V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	672					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGAGTAACCCAGGACATC	0.338000													20	40					7.45023e-12	8.1353e-12	1	1	0
MUC17	140453	broad.mit.edu	37	7	100683975	100683975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100683975C>T	ENST00000306151.4	+	3	9342	c.9278C>T	c.(9277-9279)aCc>aTc	p.T3093I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3093	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.493000													119	449					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989555	47989555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:47989555C>T	ENST00000371741.4	-	2	2708	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	848					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGGCTCCTCCCCCTGGC	0.537000													11	33					0	0	1	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864217	102864217	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:102864217G>A	ENST00000372628.1	+	3	583	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TCEAL3_ENST00000372627.5_Silent_p.E75E|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Silent_p.E75E			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	75	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCGAAGGTGAGGGCAAGCCAC	0.622000													44	159					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87104712	87104712	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:87104712C>G	ENST00000265723.4	-	2	181	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	ABCB4_ENST00000545634.1_Missense_Mutation_p.G24R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G24R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G24R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G24R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	24					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGCTGATGCCCAGTTCAAAG	0.547000													13	57					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131118036	131118036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:131118036C>T	ENST00000300456.3	+	12	1852	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	SLC27A4_ENST00000372870.1_Missense_Mutation_p.P173S	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	579					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTATGCGCGCCCCATCTTCCT	0.637000													14	70					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97867956	97867956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr2:97867956C>T	ENST00000420699.2	+	47	3119	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.P959S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	959										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGAAACCACCAGCCTTGAA	0.333000													4	27					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273415	26273415	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr13:26273415G>A	ENST00000381655.2	+	25	2458	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	ATP8A2_ENST00000255283.8_Silent_p.A732A|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	732					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGAAGTACGCGCTCTCCTTCG	0.552000													8	48					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6043922	6043922	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:6043922G>A	ENST00000409021.3	-	17	2510	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	JAKMIP1_ENST00000409371.3_Silent_p.A502A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	458					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGGGTCAGGGCGGCCTCGG	0.547000													10	45					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239557	155239557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:155239557C>T	ENST00000424344.3	+	10	1353	c.986C>T	c.(985-987)cCc>cTc	p.P329L	IL9R_ENST00000244174.5_Missense_Mutation_p.P350L|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	350					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTTGGAGCCCTGCGTCCAG	0.672000													9	14					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280003	73280003	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:73280003C>T	ENST00000320531.2	+	3	634	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	200						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCCTGGCACCTGGCCTATCT	0.612000													58	244					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838183	92838183	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:92838183G>T	ENST00000394468.2	-	4	799	c.722C>A	c.(721-723)cCt>cAt	p.P241H	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P229H|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P264H|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P229H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	241	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGTCCATAAGGTCCATCTGC	0.358000													16	66					2.32078e-09	2.47724e-09	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77170697	77170697	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr18:77170697T>A	ENST00000253506.5	+	2	791	c.422T>A	c.(421-423)gTg>gAg	p.V141E	NFATC1_ENST00000587635.1_Missense_Mutation_p.V141E|NFATC1_ENST00000427363.2_Missense_Mutation_p.V141E|NFATC1_ENST00000591814.1_Missense_Mutation_p.V141E|NFATC1_ENST00000592223.1_Missense_Mutation_p.V128E|NFATC1_ENST00000318065.5_Missense_Mutation_p.V128E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V141E|NFATC1_ENST00000329101.4_Missense_Mutation_p.V128E|NFATC1_ENST00000586434.1_Missense_Mutation_p.V128E	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	141	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GATGTGGAGGTGGAAGACGTC	0.627000													9	22					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22201401	22201401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:22201401G>A	ENST00000374695.3	-	26	3476	c.3397C>T	c.(3397-3399)Cgt>Tgt	p.R1133C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1133	Laminin EGF-like 5; second part.			R -> L (in Ref. 6; AAB21121).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACGGCCCACGGTACCCGGGT	0.697000													4	8					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724436	38724436	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:38724436G>A	ENST00000342213.2	-	1	1138	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	264	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637000													61	108					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800756	48800756	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:48800756G>A	ENST00000315396.7	-	14	2172	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	497										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGCGCCTCCGCCTGCTCCTG	0.721000													5	23					0	0	1	0	0
UFSP1	402682	broad.mit.edu	37	7	100486857	100486857	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100486857C>T	ENST00000388761.2	-	1	482	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	12										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751000													10	40					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020872	5020872	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:5020872T>C	ENST00000321543.1	+	1	660	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTTCTTATGTTCTGATTC	0.403000													16	44					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	rs138983347		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672000													39	109					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:133353241T>C	ENST00000204726.3	-	21	4515	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587000													4	102					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655924	12655924	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:12655924G>C	ENST00000425538.1	+	10	1519	c.1319G>C	c.(1318-1320)aGt>aCt	p.S440T	MYOCD_ENST00000343344.4_Missense_Mutation_p.S440T|MYOCD_ENST00000395988.1_Missense_Mutation_p.S344T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	440	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTTCTACCAGTGCCCTGTCC	0.587000													34	95					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507000													38	119					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998773	100998773	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:100998773C>A	ENST00000325455.5	-	1	2482	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R	PGR_ENST00000263463.5_Silent_p.R343R|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	343	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGGGTGAACTCCGCGGCGGGG	0.687000													16	41					6.94344e-10	7.49576e-10	1	1	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A	rs4041777		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr21:11012916C>A	ENST00000415664.2	-	8	1004		c.e8+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299000													13	20					0.000151284	0.000157934	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53654434	53654434	+	Silent	SNP	C	C	T	rs145017919	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:53654434C>T	ENST00000342160.3	-	16	1873	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P	HUWE1_ENST00000262854.6_Silent_p.P472P|HUWE1_ENST00000218328.8_Silent_p.P472P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	472					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCACAAACGGACATTCTT	0.318000													21	80					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191627	8191627	+	Missense_Mutation	SNP	G	G	A	rs113517176		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:8191627G>A	ENST00000600128.1	-	19	2800	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	FBN3_ENST00000270509.2_Missense_Mutation_p.R796W|FBN3_ENST00000601739.1_Missense_Mutation_p.R796W			Q75N90	FBN3_HUMAN	fibrillin 3	796	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTCCAGCCGGCTGCCAGGG	0.657000													15	36					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32487648	32487648	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:32487648C>T	ENST00000266088.4	+	11	1429	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	SLC5A1_ENST00000543737.1_Silent_p.S266S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	393					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCATGAGCTCCCTGACCTCCA	0.527000													24	76					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148064	70148064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:70148064C>T	ENST00000374299.3	-	5	895	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E251K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	251					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATTCCCTCGAAGCCGAAA	0.498000													4	26					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11600065	11600065	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:11600065C>T	ENST00000273038.3	-	6	1203	c.838G>A	c.(838-840)Gtc>Atc	p.V280I	VGLL4_ENST00000451674.2_Missense_Mutation_p.V200I|VGLL4_ENST00000424529.2_Missense_Mutation_p.V196I|VGLL4_ENST00000404339.1_Missense_Mutation_p.V285I|VGLL4_ENST00000413604.1_Missense_Mutation_p.V221I|VGLL4_ENST00000430365.2_Missense_Mutation_p.V286I	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTGTGGCTGACCATGTGGGCA	0.622000													16	51					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	37					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387770	196387770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:196387770C>T	ENST00000328557.4	+	3	1459	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GGCGTCCCCCCTGGCCTCTTC	0.637000													38	107					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46755847	46755847	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:46755847G>A	ENST00000460241.1	-	9	2285	c.615C>T	c.(613-615)aaC>aaT	p.N205N	PRSS50_ENST00000315170.7_Silent_p.N205N			Q9UI38	TSP50_HUMAN	protease, serine, 50	205	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCGATGTCGTTGGCCTGGC	0.607000													9	10					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224101	27224101	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:27224101C>T	ENST00000361720.5	-	2	590	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	189						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGGCATCAGCACTGGTG	0.602000													17	50					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226634	152226634	+	Missense_Mutation	SNP	C	C	T	rs148950007	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:152226634C>T	ENST00000447306.1	+	2	1558	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PNMA3_ENST00000370265.4_Missense_Mutation_p.R408W|PNMA3_ENST00000370264.4_Missense_Mutation_p.R408W	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	408	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGAAAACGGAAACGCCA	0.577000													37	107					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	114					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTGCGAGGACGATGCAATTC	0.453000													43	116					0	0	1	0	0
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													3	24					0.00909568	0.00919244	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62238562	62238562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:62238562C>T	ENST00000261517.5	-	44	4997	c.4924G>A	c.(4924-4926)Gcc>Acc	p.A1642T	VPS13C_ENST00000395896.4_Missense_Mutation_p.A1642T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1599T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1599T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1642					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAGTCTGGCAAACACATCA	0.318000													5	22					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:153588484C>T	ENST00000422373.1	-	22	3927	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000369850.3_Missense_Mutation_p.G1227R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637000													13	76					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843526	22843526	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:22843526C>T	ENST00000360412.2	-	4	973	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ZNF280B_ENST00000406426.1_Silent_p.P66P	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGAACCCGGGGTGACTC	0.408000													14	78					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237331	56237331	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:56237331A>T	ENST00000312240.2	-	1	683	c.643T>A	c.(643-645)Tct>Act	p.S215T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATAAGTAAGAGATGATAATT	0.428000													31	91					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33318925	33318925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:33318925C>T	ENST00000327671.5	-	2	677	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	FUT10_ENST00000524021.1_Intron|FUT10_ENST00000518672.1_Intron|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	16					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V16F(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTGGCTGTGACGCACAGGCAA	0.552000													25	54					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453060	89453060	+	Silent	SNP	C	C	T	rs138080885	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:89453060C>T	ENST00000539437.1	-	3	280	c.144G>A	c.(142-144)acG>acA	p.T48T	MFGE8_ENST00000566497.1_Silent_p.T56T|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.T56T|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268151.7_Silent_p.T56T			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	56	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTAAGGCACGTGCAGGTGT	0.557000													21	82					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655450	19655450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:19655450G>A	ENST00000586018.1	+	8	2216	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	CILP2_ENST00000291495.4_Missense_Mutation_p.R699H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCTTCCGGCGCGAGGGGTCC	0.706000													3	7					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113269791	113269791	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:113269791A>C	ENST00000303941.3	+	8	1194	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	367			H -> Q (in dbSNP:rs34298987).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCCCCTCCACTTCCTGGTG	0.597000													4	14					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25351255	25351255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:25351255C>T	ENST00000302874.4	+	7	925	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	301							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAAGAAGGTCAAAGCCAAGG	0.378000													28	68					0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42221755	42221755	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:42221755C>A	ENST00000255784.5	+	7	722	c.618C>A	c.(616-618)cgC>cgA	p.R206R	CCDC134_ENST00000402061.3_Silent_p.R93R	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	206	Arg/Glu/Lys-rich (mixed charge).					extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGAGAAACGCCGAAAGAAAG	0.532000													18	50					3.52763e-06	3.72361e-06	1	1	0
NIT2	56954	broad.mit.edu	37	3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:100057936C>T	ENST00000394140.3	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	5	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473000													33	99					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61951525	61951525	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:61951525G>A	ENST00000422202.1	+	23	3140	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	COL20A1_ENST00000358894.6_Silent_p.R1017R|COL20A1_ENST00000326996.6_Silent_p.R1017R|COL20A1_ENST00000435874.1_Silent_p.R1024R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1017	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAAGGCCAGGGGCCCCCGGA	0.736000													7	14					0	0	1	0	0
GPR42	2866	broad.mit.edu	37	19	35862414	35862414	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:35862414C>T	ENST00000454971.1	+	2	354	c.153C>T	c.(151-153)gaC>gaT	p.D51D	GPR42_ENST00000597214.1_Silent_p.D51D					G protein-coupled receptor 42 (gene/pseudogene)									p.D51D(1)		endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGCCGTGGACGTGCTCCTGC	0.662000													29	29					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	55	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757																											TCTTCATCCCTCACCCCCCCCC	0.460													6	10	---	---	---	---					
MRPL41	64975	broad.mit.edu	37	9	140446796	140446796	+	Frame_Shift_Del	DEL	C	C	-	rs11555676		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:140446796delC	ENST00000371443.5	+	2	1051	c.263delC	c.(262-264)gcfs	p.A89fs		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	89					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCCTGACGGCCGCGCAGCTC	0.627													10	44	---	---	---	---					
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-150)gca>gGCAca	p.50_50A>GT		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	50					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													3	3	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													9	79	---	---	---	---