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
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													4	36					0	0	1	0	0
SNORD3A	0	broad.mit.edu	37	17	19091407	19091407	+	RNA	SNP	C	C	G			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:19091407C>G	ENST00000365494.1	+	0	79																											ccgaaaaccacgaggaagaga	0.493000													43	368					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940489	76940489	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:76940489T>A	ENST00000373344.5	-	8	818	c.604A>T	c.(604-606)Aag>Tag	p.K202*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.K164*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	202	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	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)	ATGTAATACTTAAAGCAATTC	0.284000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						49	8					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	G	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:64498755G>C	ENST00000426828.1	+	0	18					NR_033416.1																						gcaggatggcgacggcCGTCC	0.746000													3	6					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170093662	170093662	+	Missense_Mutation	SNP	T	T	C	rs140722973	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:170093662T>C	ENST00000263816.3	-	28	4927	c.4642A>G	c.(4642-4644)Agt>Ggt	p.S1548G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGTTTTTACTAATCAGCACA	0.383000													37	60					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7250531	7250531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7250531C>T	ENST00000158762.3	+	14	1519	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	438	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTTGGTGTCACCCTCTGCATT	0.642000													26	14					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612906	85612906	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr4:85612906T>C	ENST00000322366.6	-	59	9438	c.9031A>G	c.(9031-9033)Aca>Gca	p.T3011A	WDFY3_ENST00000295888.4_Missense_Mutation_p.T3028A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3028						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTTATCTGTACATACGATT	0.388000													21	36					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								18	35					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr15:94901781G>A	ENST00000357742.4	+	9	1241	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D	MCTP2_ENST00000543482.1_Silent_p.G392G|MCTP2_ENST00000451018.3_Missense_Mutation_p.G414D|MCTP2_ENST00000331706.4_Missense_Mutation_p.G2D|MCTP2_ENST00000557742.1_Missense_Mutation_p.G2D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453000													15	25					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990506	63990506	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:63990506C>T	ENST00000370657.4	-	4	983	c.950G>A	c.(949-951)aGt>aAt	p.S317N	LGSN_ENST00000370658.5_Splice_Site			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	317					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATCCCAGAGACTATGAGACAA	0.433000													22	37					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8424575	8424575	+	Silent	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:8424575G>A	ENST00000360416.3	-	18	2124	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	MYH10_ENST00000396239.1_Silent_p.V652V|MYH10_ENST00000379980.4_Silent_p.V647V|MYH10_ENST00000269243.4_Silent_p.V631V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	631	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCATACCAGTGACTTGATCCA	0.463000													32	63					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432487	135432487	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:135432487G>C	ENST00000394143.1	+	6	6913	c.6622G>C	c.(6622-6624)Gtg>Ctg	p.V2208L	GPR112_ENST00000370652.1_Missense_Mutation_p.V2208L|GPR112_ENST00000287534.4_Missense_Mutation_p.V2145L|GPR112_ENST00000412101.1_Missense_Mutation_p.V2003L|GPR112_ENST00000394141.1_Missense_Mutation_p.V2003L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2208					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAGCAACTGTGTCTTCACC	0.453000													5	55					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4556083	4556083	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:4556083C>T	ENST00000586582.1	-	6	698	c.388G>A	c.(388-390)Gta>Ata	p.V130I	SEMA6B_ENST00000301293.3_Missense_Mutation_p.V130I|SEMA6B_ENST00000586965.1_Missense_Mutation_p.V130I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	130	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTTTACGAAGTTTCGA	0.607000													6	32					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100469261	100469261	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:100469261G>A	ENST00000200457.4	+	7	1456	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	366	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCACCTGCGTGGTGTGTCA	0.632000													21	45					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6155976	6155976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:6155976C>T	ENST00000261405.5	-	17	2448	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	732					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGCCATCCTCACAGTAGCTG	0.557000													3	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACCACCACACTATGTCGA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	4					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725703	28725703	+	Silent	SNP	G	G	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr18:28725703G>A	ENST00000257197.3	-	7	1071	c.810C>T	c.(808-810)gaC>gaT	p.D270D	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.D270D	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	270	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTCAGGTTCGTCAAGGTCTG	0.368000													4	65					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	48					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	13					0.004672	0.004672	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43403556	43403556	+	Missense_Mutation	SNP	A	A	G	rs114002465	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:43403556A>G	ENST00000244533.3	+	3	1906	c.1547A>G	c.(1546-1548)aAt>aGt	p.N516S	ABCC10_ENST00000372530.4_Missense_Mutation_p.N559S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	559	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGGTGATCAATGGTCTCCTG	0.572000													26	40					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													4	8	---	---	---	---