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
KEL	3792	broad.mit.edu	37	7	142655011	142655011	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:142655011C>T	uc003wcb.3	-	5	785	c.575G>A	c.(574-576)cGa>cAa	p.R192Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	192					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R192Q(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522000														40			16		0	0	0.024245	0	0
PCIF1	63935	broad.mit.edu	37	20	44567656	44567656	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:44567656C>T	uc002xqs.3	+	2	332	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	6						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATGAGAATCACGGCAGCCCCC	0.602000														86			12		0	0	0.105934	0	0
CXXC4	80319	broad.mit.edu	37	4	105412082	105412082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:105412082C>T	uc003hxg.3	-	0	386	c.371G>A	c.(370-372)gGg>gAg	p.G124E	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	124					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCCAGCTCCCCCTGAGGAGGA	0.602000														60			13		0	0	0.093190	0	0
TTYH2	94015	broad.mit.edu	37	17	72246149	72246149	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:72246149C>T	uc002jkc.3	+	8	1036	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	TTYH2_uc010wqw.2_Silent_p.P314P|TTYH2_uc002jkd.3_Silent_p.P14P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	335						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGCCGTGCCCCTCTTCTCCA	0.652000														53			35		0	0	0.069456	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														21			3		0	0	0.004672	0	0
M6PR	4074	broad.mit.edu	37	12	9094479	9094479	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9094479C>T	uc001qvf.3	-	6	1044	c.769G>A	c.(769-771)Ggt>Agt	p.G257S	M6PR_uc021quk.1_Missense_Mutation_p.G171S	NM_002355	NP_002346	P20645	MPRD_HUMAN	Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), transcript variant 1, mRNA.	257					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	p.R256C(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TCCCCCACACCACGATATGCT	0.468000														404			53		0	0	0.048971	0	0
DLX5	1749	broad.mit.edu	37	7	96651603	96651603	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:96651603G>C	uc003uon.3	-	1	642	c.434C>G	c.(433-435)tCc>tGc	p.S145C	DLX5_uc011kim.1_Missense_Mutation_p.S145C	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	145					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAAAGCTGGAATAAATAGT	0.498000														72			46		0	0	0.045515	0	0
BNIP2	663	broad.mit.edu	37	15	59971949	59971949	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59971949C>T	uc010uhc.2	-	3	503	c.500G>A	c.(499-501)gGa>gAa	p.G167E	BNIP2_uc010uhb.2_Missense_Mutation_p.G108E	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	46	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CACTTTATTTCCATTAACTTC	0.368000														25			4		0	0	0.009096	0	0
DDX12P	440081	broad.mit.edu	37	12	9580280	9580280	+	RNA	SNP	A	G	G	rs146037854	by1000genomes	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9580280A>G	uc021qut.1	-	4		c.342T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		AGTCGTTGATAGTCTTCAGCT	0.493000														270			10		0	0	0.076483	0	0
C15orf2	23742	broad.mit.edu	37	15	24921762	24921762	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:24921762C>T	uc001ywo.3	+	0	1222	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	250					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGGATGTGCCCGGCATCTTGG	0.622000														53			11		0	0	0.093190	0	0
GPR32	2854	broad.mit.edu	37	19	51273893	51273893	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:51273893T>A	uc010ycf.2	+	0	36	c.36T>A	c.(34-36)agT>agA	p.S12R		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	12						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGGCTGCAGTGACAGGCAAC	0.498000														15			7		0	0	0.029380	0	0
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:76814313G>A	uc004ecp.4	-	28	6563	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R2073*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1896*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2111	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R2111*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAATAATCGTCCTCTGAAA	0.274000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							6			15		0	0	0.020292	0	0
LOC90925	0	broad.mit.edu	37	14	107259331	107259331	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr14:107259331C>T	uc001yta.1	-	1	379	c.348G>A	c.(346-348)gtG>gtA	p.V116V	abParts_uc021ser.1_Non-coding_Transcript					Homo sapiens hypothetical protein LOC90925, mRNA (cDNA clone MGC:3963 IMAGE:3621362), complete cds.																		TGGTCCCTCTCACACAATAAT	0.607000														18			10		0	0	0.069234	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr22:39497965C>T	uc021wpt.1	+	3	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.P154L|APOBEC3H_uc021wpv.1_Missense_Mutation_p.P154L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537000														9			26		0	0	0.030593	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819517	89819517	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:89819517C>G	uc010rub.2	+	0	400	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	134					multicellular organismal development	cytoplasm|nucleus	DNA binding										GACCAAAATCCTGTCAAAGAA	0.443000														15			7		0	0	0.069234	0	0
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	G	G	rs68140816		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:7579311C>G	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532000		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)				14			49		0	0	0.048971	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														14			3		0	0	0.004672	0	0
COL14A1	7373	broad.mit.edu	37	8	121290392	121290392	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr8:121290392A>T	uc003yox.3	+	26	3521	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.K51*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1086	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGAATTTAAACTAAATGC	0.378000														59			52		0	0	0.048971	0	0
SPA17	53340	broad.mit.edu	37	11	124564278	124564278	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:124564278G>A	uc001qap.3	+	4	528	c.392G>A	c.(391-393)aGa>aAa	p.R131K		NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	131	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CACATAGCCAGAGAGGAGGCA	0.408000														92			15		0	0	0.028581	0	0
PLCH1	23007	broad.mit.edu	37	3	155198970	155198970	+	Silent	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:155198970G>A	uc021xge.1	-	22	5146	c.4869C>T	c.(4867-4869)acC>acT	p.T1623T	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.T1585T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1623					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACTGCAGGGGTGGGTGCTG	0.577000														62			10		0	0	0.058154	0	0
FGF7	2252	broad.mit.edu	37	15	49776652	49776652	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:49776652C>T	uc001zxn.3	+	3	1065	c.536C>T	c.(535-537)aCg>aTg	p.T179M	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	179					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.T179M(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GGAAAAAAAACGAAGAAAGAA	0.373000														17			6		0	0	0.029380	0	0
COL4A2	1284	broad.mit.edu	37	13	111147702	111147702	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr13:111147702C>T	uc001vqx.3	+	39	3937	c.3648C>T	c.(3646-3648)caC>caT	p.H1216H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1216	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGACATCCACGGAGACCCAG	0.557000														96			11		0	0	0.093190	0	0
CCDC33	80125	broad.mit.edu	37	15	74554908	74554908	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:74554908C>T	uc002axo.3	+	2	707	c.313C>T	c.(313-315)Caa>Taa	p.Q105*		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	308							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGCAGGGCAAGAAGGTAA	0.597000														12			4		0	0	0.009096	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000														4			3		0	0	0.004672	0	0
ZNF629	23361	broad.mit.edu	37	16	30795077	30795077	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:30795077G>A	uc002dzs.1	-	2	780	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CACCAGGTGCGAGCTCTGCGT	0.657000														35			4		0	0	0.009096	0	0
CNTN3	5067	broad.mit.edu	37	3	74419100	74419100	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:74419100G>C	uc003dpm.1	-	5	781	c.701C>G	c.(700-702)cCa>cGa	p.P234R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	234	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGAGTTTCTGGAAACTGAAC	0.333000														59			12		0	0	0.105934	0	0
DNAH10	196385	broad.mit.edu	37	12	124332564	124332564	+	Silent	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:124332564C>T	uc001uft.4	+	31	5542	c.5517C>T	c.(5515-5517)acC>acT	p.T1839T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1839	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGCAAAACCGAGACCACCA	0.552000														34			55		0	0	0.048971	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102595	13102595	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:13102595C>T	uc010shp.2	-	0	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCAATGCAGACGACCGGGTCG	0.567000														74			15		0	0	0.020292	0	0
GABRA6	2559	broad.mit.edu	37	5	161118969	161118969	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:161118969G>A	uc003lyu.2	+	7	1187	c.849G>A	c.(847-849)atG>atA	p.M283I	GABRA6_uc003lyv.2_Missense_Mutation_p.M54I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTAACTATGACCACTTTGA	0.403000										TCGA Ovarian(5;0.080)				74			10		0	0	0.058154	0	0
GPR139	124274	broad.mit.edu	37	16	20043246	20043246	+	Silent	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:20043246C>G	uc002dgu.1	-	1	1035	c.873G>C	c.(871-873)cgG>cgC	p.R291R	GPR139_uc010vaw.1_Silent_p.R198R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	291						integral to membrane|plasma membrane		p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGA	0.502000														120			21		0	0	0.055883	0	0
PRB3	5544	broad.mit.edu	37	12	11420518	11420518	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420518G>A	uc001qzs.3	-	2	703	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.R221S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617000														520			52		0	0	0.048971	0	0
DBH	1621	broad.mit.edu	37	9	136501814	136501814	+	Silent	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:136501814G>A	uc004cel.3	+	0	330	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	107	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGACCGATGGGGACACTGCCT	0.617000														23			5		0	0	0.029380	0	0
LILRP2	79166	broad.mit.edu	37	19	55220779	55220779	+	RNA	SNP	C	T	T	rs28394351	by1000genomes	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:55220779C>T	uc002qgs.1	+	0		c.1179C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TGATGTGGGACGCGTGAGCCC	0.602000														8			5		0	0	0.014758	0	0
RPP30	10556	broad.mit.edu	37	10	92631801	92631801	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:92631801G>A	uc001khd.2	+	0	328	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_uc010qnj.2_Missense_Mutation_p.G20R|RPP30_uc009xtx.3_Missense_Mutation_p.G20R	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.G20R(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637000														91			66		0	0	0.048971	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														9			5		0	0	0.058154	0	0
ZP3	7784	broad.mit.edu	37	7	76054391	76054391	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:76054391C>T	uc003ufd.4	+	0	120	c.110C>T	c.(109-111)aCg>aTg	p.T37M	ZP3_uc003ufc.4_5'UTR	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	37					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	p.E36*(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCCTGAGACGTCCGTACAG	0.587000														14			6		0	0	0.021553	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000														76			5		0	0	0.021553	0	0
ZBBX	79740	broad.mit.edu	37	3	166960403	166960403	+	Silent	SNP	G	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:166960403G>T	uc011bpc.2	-	20	2620	c.2283C>A	c.(2281-2283)acC>acA	p.T761T	ZBBX_uc003feq.3_Silent_p.T693T|ZBBX_uc003fep.3_Silent_p.T722T	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	722						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACTCTTCTGAGGTTAAGCTGT	0.368000														19			7		5.4927e-09	5.86509e-09	0.047766	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									37			26		0	0	0.034045	0	0
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:102290602C>T	uc001duf.2	-	3	703	c.632G>A	c.(631-633)cGt>cAt	p.R211H	OLFM3_uc001dug.2_Missense_Mutation_p.R191H|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.R116H|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	211						extracellular region		p.T210T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373000														40			7		0	0	0.038147	0	0
AMFR	267	broad.mit.edu	37	16	56442018	56442018	+	Missense_Mutation	SNP	G	A	A	rs147760918		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:56442018G>A	uc002eiy.3	-	3	729	c.524C>T	c.(523-525)tCg>tTg	p.S175L		NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	175					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGTGGTGGGCGAGAAGGAAAG	0.532000														19			8		0	0	0.038147	0	0
SDK2	54549	broad.mit.edu	37	17	71375616	71375616	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:71375616G>A	uc010dfm.3	-	34	4835	c.4835C>T	c.(4834-4836)cCc>cTc	p.P1612L	SDK2_uc002jjt.4_Missense_Mutation_p.P752L|SDK2_uc010dfn.2_Missense_Mutation_p.P1291L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1612	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCTGCGGGGGGCTGGAGGG	0.657000														40			3		0	0	0.004672	0	0
ACER1	125981	broad.mit.edu	37	19	6307219	6307219	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:6307219G>A	uc002mel.2	-	4	649	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	191						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAAAGCAGACGGTCACTGATC	0.542000														47			11		0	0	0.093190	0	0
BICD2	23299	broad.mit.edu	37	9	95481306	95481306	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:95481306C>T	uc004asp.1	-	4	1678	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	BICD2_uc004aso.1_Missense_Mutation_p.V541M	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	541					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATGCACACGTGGTGGTAG	0.657000														61			18		0	0	0.069288	0	0
STX19	415117	broad.mit.edu	37	3	93733522	93733522	+	Silent	SNP	A	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:93733522A>G	uc003drh.1	-	1	849	c.592T>C	c.(592-594)Tta>Cta	p.L198L	ARL13B_uc003drc.3_Intron|ARL13B_uc010hop.3_Intron|ARL13B_uc003drf.3_Intron|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_Intron|STX19_uc021xbj.1_Silent_p.L198L	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	Homo sapiens syntaxin 19 (STX19), mRNA.	198					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTGTAAGTAAGCTTTCATTA	0.328000														66			11		0	0	0.069234	0	0
ZNF718	255403	broad.mit.edu	37	4	59959	59959	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:59959A>G	uc003fzv.1	+	2	295	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	ZNF718_uc003fzt.4_Missense_Mutation_p.I47V|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGGTTTTGTGATCTCTAACCC	0.393000														87			6		0	0	0.021553	0	0
HELZ	9931	broad.mit.edu	37	17	65105453	65105453	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:65105453T>C	uc010wqk.2	-	28	4458	c.4271A>G	c.(4270-4272)tAt>tGt	p.Y1424C	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.Y1423C|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCGCCTGATATGCAGGAGA	0.527000														46			29		0	0	0.030593	0	0
LOC399753	399753	broad.mit.edu	37	10	49239657	49239657	+	Splice_Site	SNP	C	G	G	rs139696778	by1000genomes	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:49239657C>G	uc001jgd.3	-	1	1	c.-158_splice	c.e1-1							Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TGCCTCTGCTCACAGCTTTGG	0.637000														32			4		0	0	0.009096	0	0
COL4A5	1287	broad.mit.edu	37	X	107938508	107938508	+	Silent	SNP	A	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:107938508A>T	uc022ccg.1	+	51	5035	c.4833A>T	c.(4831-4833)gcA>gcT	p.A1611A	COL4A5_uc004enz.1_Silent_p.A1605A	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1605	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATACAAGTGCAGGGGCAGAAG	0.488000									Alport syndrome with Diffuse Leiomyomatosis					50			19		0	0	0.049695	0	0
PRB3	5544	broad.mit.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	A	A	rs71057716		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420581G>A	uc001qzs.3	-	2	640	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding	p.R200C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632000														623			24		0	0	0.064281	0	0
MUC17	140453	broad.mit.edu	37	7	100679309	100679309	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:100679309C>G	uc003uxp.1	+	2	4665	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1538	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)					TTCAACAACTCCTGCTGTCAC	0.473000														250			46		0	0	0.045515	0	0
PAX4	5078	broad.mit.edu	37	7	127255046	127255046	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:127255046G>C	uc010lld.1	-	1	430	c.224C>G	c.(223-225)cCt>cGt	p.P75R	PAX4_uc003vmf.2_Missense_Mutation_p.P73R|PAX4_uc003vmg.1_Missense_Mutation_p.P75R|PAX4_uc003vmh.3_Missense_Mutation_p.P73R	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P75T(1)|p.P75P(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACCACAGGGGGTGTAGC	0.582000														60			45		0	0	0.048971	0	0
BSDC1	55108	broad.mit.edu	37	1	32842101	32842101	+	Silent	SNP	G	T	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:32842101G>T	uc001bvi.3	-	8	1016	c.969C>A	c.(967-969)tcC>tcA	p.S323S	BSDC1_uc001bvh.4_Silent_p.S306S|BSDC1_uc010ohg.2_Silent_p.S323S|BSDC1_uc010ohh.2_Silent_p.S250S|BSDC1_uc010ohi.2_Silent_p.S211S|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.S202S			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	306							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCAGCTTTTGGGACAGGTCCT	0.597000														58			41		1.04594e-18	1.13611e-18	0.086207	1	0
SKP2	6502	broad.mit.edu	37	5	36152899	36152899	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:36152899T>A	uc003jkc.2	+	1	255	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	SKP2_uc003jkd.3_Missense_Mutation_p.L12Q|SKP2_uc011cou.2_5'UTR|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	12					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCCAGACCTGAGTAGCAAC	0.517000														43			15		0	0	0.038395	0	0
ROS1	6098	broad.mit.edu	37	6	117746774	117746774	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:117746774delT	uc003pxp.1	-	0	245	c.46delA	c.(46-48)actfs	p.T16fs	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	16					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGCCAAGAGTTGCAAAATTG	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								---	91	---	---	60	---					
METAP2	10988	broad.mit.edu	37	12	95868076	95868078	+	In_Frame_Del	DEL	AAG	-	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:95868076_95868078delAAG	uc001tec.3	+	0	255_257	c.121_123delAAG	c.(121-123)aagdel	p.K44del	METAP2_uc010suv.2_In_Frame_Del_p.K44del|METAP2_uc001tef.3_In_Frame_Del_p.K44del|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	44	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAAAAGACGAAAGAAGAAGAAGA	0.557													---	45	---	---	11	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59182564_59182565delCT	uc002afp.3	-	14	2082_2083	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													---	99	---	---	7	---					
