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
SRL	6345	broad.mit.edu	37	16	4242361	4242361	+	Silent	SNP	G	G	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr16:4242361G>A	ENST00000399609.3	-	6	1227	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	SRL_ENST00000537996.1_Silent_p.F363F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	864	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GATTGATGCCGAAGAAGTCCT	0.493000													25	39					0	0	0.654019	0	0
PLXNA1	5361	broad.mit.edu	37	3	126732904	126732904	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:126732904C>G	ENST00000251772.4	+	10	2355	c.2286C>G	c.(2284-2286)aaC>aaG	p.N762K	PLXNA1_ENST00000393409.2_Missense_Mutation_p.N785K			Q9UIW2	PLXA1_HUMAN	plexin A1	785					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCCAGTGAACCTGTCAGTCG	0.632000													24	101					0	0	0.693898	0	0
INTS1	26173	broad.mit.edu	37	7	1538970	1538970	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:1538970C>A	ENST00000389470.4	-	8	1254	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	INTS1_ENST00000404767.3_Nonsense_Mutation_p.E291*			Q8N201	INT1_HUMAN	integrator complex subunit 1	291					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTCCTCCTCCGTGAGGGAG	0.697000													5	88					3.59834e-05	4.39797e-05	0.217242	1	0
MUC5AC	4586	broad.mit.edu	37	11	1161875	1161875	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1161875C>G	ENST00000356191.2	+	18	1546	c.1546C>G	c.(1546-1548)Ccc>Gcc	p.P516A						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CACCCAGCTGCCCATCTCTGC	0.642000													3	17					0	0	0.115264	0	0
MET	0	broad.mit.edu	37	7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:116381017C>T	ENST00000397752.3	+	5	1839	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	MET_ENST00000318493.6_Nonsense_Mutation_p.R547*|MET_ENST00000436117.2_Nonsense_Mutation_p.R547*|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	547					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAATGTGTGCGATCGGAGGA	0.512000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				20	78					0	0	0.608945	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350799	134350799	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:134350799C>G	ENST00000275230.5	-	2	319	c.164G>C	c.(163-165)gGt>gCt	p.G55A		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGTTCATAACCCACCAGGAG	0.517000													6	32					0	0	0.217242	0	0
RBM41	55285	broad.mit.edu	37	X	106310757	106310757	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:106310757C>A	ENST00000372479.3	-	7	1272	c.1242G>T	c.(1240-1242)taG>taT	p.*414Y	RBM41_ENST00000372487.1_Intron	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	0							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TATATATATTCTAGCTACCAC	0.378000													41	143					9.85913e-13	1.25135e-12	0.847076	1	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	16					0	0	0.150653	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								17	41					0	0	0.539581	0	0
ATRX	546	broad.mit.edu	37	X	76849221	76849221	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019					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)	AGTACCATTTTCCCAGAATGC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						19	52					0	0	0.608945	0	0
BRSK2	9024	broad.mit.edu	37	11	1477653	1477653	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1477653G>A	ENST00000308219.9	+	17	2130	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M	BRSK2_ENST00000382179.1_Missense_Mutation_p.V628M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V604M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V604M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V277M|BRSK2_ENST00000528710.1_Missense_Mutation_p.V522M|BRSK2_ENST00000528841.1_Missense_Mutation_p.V582M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V582M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	582					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGGCCAGCCGTGTTCCAGAA	0.612000													9	11					0	0	0.307466	0	0
AKR1B15	441282	broad.mit.edu	37	7	134256364	134256364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:134256364T>A	ENST00000457545.2	+	6	704	c.444T>A	c.(442-444)gaT>gaA	p.D148E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGACTGGGGATGACTTTTTCC	0.423000													13	61					0	0	0.411799	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			8	19					0	0	0.278610	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908011	12908011	+	Silent	SNP	C	C	T			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr1:12908011C>T	ENST00000317869.6	-	2	357	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A44A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGAGCAGCCCGCAATTTTGC	0.478000													15	130					0	0	0.500413	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611243	62611243	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:62611243G>A	ENST00000281156.4	-	5	795	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GATAATTCACGTAGTTGTTCC	0.418000													17	24					0	0	0.557998	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316584	30316584	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr10:30316584C>G	ENST00000375377.1	-	3	2594	c.2493G>C	c.(2491-2493)ttG>ttC	p.L831F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	831										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTGACTGATCAAATCCCAGG	0.557000													14	93					0	0	0.479597	0	0
DPPA4	55211	broad.mit.edu	37	3	109049418	109049418	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:109049418G>C	ENST00000335658.6	-	5	686	c.632C>G	c.(631-633)gCc>gGc	p.A211G	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	211						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTCGCCCTGGCTGAAATTCT	0.522000													5	53					0	0	0.184627	0	0
CSNK2A1	1457	broad.mit.edu	37	20	464702	464702	+	Missense_Mutation	SNP	G	G	A	rs61747403		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr20:464702G>A	ENST00000217244.3	-	14	1454	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_ENST00000400217.1_Missense_Mutation_p.T224I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I|CSNK2A1_ENST00000400227.3_Intron	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	360					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGGTGAAGGGGTTGGCACTGA	0.547000													3	14					0	0	0.115264	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255483	85255483	+	Silent	SNP	A	A	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr12:85255483A>G	ENST00000266682.5	-	12	2662	c.2121T>C	c.(2119-2121)gcT>gcC	p.A707A	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Silent_p.A600A	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	707					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATTGGGAGCAGTATCCA	0.423000													9	118					0	0	0.307466	0	0
VPS41	27072	broad.mit.edu	37	7	38796519	38796519	+	Silent	SNP	G	G	A	rs146405914		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:38796519G>A	ENST00000310301.4	-	19	1668	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	VPS41_ENST00000395969.2_Silent_p.D513D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	538					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGAAAAACGTCTTTATGTC	0.284000													9	20					0	0	0.335167	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622000													3	36					0	0	0.150653	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGTGCCGGGCGGGGGTGTGGA	0.612000		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)			16	27					0	0	0.500413	0	0
PRDM14	63978	broad.mit.edu	37	8	70981760	70981760	+	Silent	SNP	C	C	T			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr8:70981760C>T	ENST00000276594.2	-	2	537	c.336G>A	c.(334-336)ccG>ccA	p.P112P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632000													8	19					0	0	0.278610	0	0
FAM74A3	0	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													3	6	---	---	---	---					
WHAMMP3	0	broad.mit.edu	37	15	23194730	23194730	+	RNA	DEL	A	A	-			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr15:23194730delA	ENST00000400153.2	-	0	1758					NR_003521.1																						CTCTGGAGAGAAGCTCTTTTG	0.448													2	4	---	---	---	---					
