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
AMOTL1	154810	broad.mit.edu	37	11	94602475	94602475	+	Silent	SNP	C	C	T	rs147218652	by1000genomes	TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:94602475C>T	uc001pfb.3	+	11	2771	c.2601C>T	c.(2599-2601)caC>caT	p.H867H	AMOTL1_uc001pfc.3_Silent_p.H817H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	867						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCAGTGCCCACGCCAAGACAG	0.652000													4	7					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:7577142C>T	uc002gim.2	-	7	990	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(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)		CTGTTCCGTCCCAGTAGATTA	0.517000		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)			17	4					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860812	13860812	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:13860812C>T	uc003bye.1	-	3	984	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	227					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCTTGAGCACGTAGCCCAGC	0.587000													13	60					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41936719	41936719	+	Silent	SNP	G	G	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr22:41936719G>A	uc003baf.3	-	2	257	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_uc003bag.2_Silent_p.G64G|POLR3H_uc003bai.2_Silent_p.G64G|POLR3H_uc003baj.2_Silent_p.G64G	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) (POLR3H), transcript variant 1, mRNA.	64					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G64G(3)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502000													29	60					0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101431291	101431291	+	RNA	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:101431291C>T	uc003dvj.3	+	0		c.14C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GCACAGCTGGCTTGAGCAACT	0.453000													3	21					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725264	31725264	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:31725264C>T	uc021wuu.1	-	7	2259	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	OSBPL10_uc003ceu.1_Missense_Mutation_p.A287T|OSBPL10_uc011axf.2_Missense_Mutation_p.A466T	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	530					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGCTCAGCCACAAACCTT	0.527000													8	93					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602531	5602531	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:5602531A>G	uc010qzi.2	+	0	425	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R141S(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCTATGTGGCCATC	0.512000													49	78					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39934221	39934221	+	Silent	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:39934221C>G	uc004den.4	-	3	670	c.378G>C	c.(376-378)ccG>ccC	p.P126P	BCOR_uc004dep.4_Silent_p.P126P|BCOR_uc004deo.4_Silent_p.P126P|BCOR_uc004dem.4_Silent_p.P126P|BCOR_uc004deq.4_Silent_p.P126P	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	126					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGGTGTATTCGGTTTGAACT	0.507000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						15	11					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78117984	78117984	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:78117984C>G	uc010wuc.2	-	2	302	c.229G>C	c.(229-231)Gat>Cat	p.D77H	EIF4A3_uc002jxs.3_Missense_Mutation_p.D77H	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	77	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473000													5	63					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6145947	6145947	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:6145947C>T	uc003mwv.3	-	14	2227	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R	F13A1_uc011dib.2_Silent_p.L595L	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	702					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCGATGCCCAGAGACCCAG	0.547000													17	76					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46766546	46766546	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:46766546C>T	uc002eei.4	-	3	1152	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	MYLK3_uc010vge.2_Missense_Mutation_p.G5R|MYLK3_uc002eej.1_Missense_Mutation_p.G5R	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCATCTCCCCAGGAGTATCC	0.607000													8	12					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108216948	108216948	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:108216948A>G	uc003dxa.1	-	6	686	c.629T>C	c.(628-630)aTc>aCc	p.I210T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	210	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATACTGGATAATATGTTT	0.403000													55	96					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531779	150531779	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:150531779G>A	uc009wlw.3	+	16	3007	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D	ADAMTSL4_uc001eux.3_Missense_Mutation_p.G927D|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G888D|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.G90D	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	927	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCGAATGTGGCTCTGGCACA	0.592000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	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								27	45					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128124938	128124938	+	Silent	SNP	T	T	C			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:128124938T>C	uc004bpp.3	+	26	4537	c.4377T>C	c.(4375-4377)gcT>gcC	p.A1459A	GAPVD1_uc004bpq.3_Silent_p.A1432A|GAPVD1_uc010mwx.3_Silent_p.A1450A|GAPVD1_uc004bpr.3_Silent_p.A1411A|GAPVD1_uc004bps.3_Silent_p.A1405A|GAPVD1_uc004bpt.3_Silent_p.A465A	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1450	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTTTTATGCTAGCTGTCTGT	0.418000													48	85					0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42257212	42257212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:42257212C>T	uc022aul.1	+	4	319	c.317C>T	c.(316-318)cCg>cTg	p.P106L	VDAC3_uc010lxk.3_Intron|VDAC3_uc003xpc.3_Missense_Mutation_p.P105L|VDAC3_uc011lct.2_Missense_Mutation_p.P105L	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	105					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATATTTGTACCGAACACAGGG	0.338000													12	24					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861581	55861581	+	Silent	SNP	G	G	A			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:55861581G>A	uc010rix.2	+	0	798	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265*(1)|p.S266*(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACACATCATCGCTGACCCAGG	0.468000													7	89					0	0	1	0	0
MED28	80306	broad.mit.edu	37	4	17616285	17616285	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr4:17616285C>T	uc003gpi.1	+	0	13	c.8C>T	c.(7-9)gCt>gTt	p.A3V	MED28_uc003gpj.3_Non-coding_Transcript	NM_025205	NP_079481	Q9H204	MED28_HUMAN	Homo sapiens mediator complex subunit 28 (MED28), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						AACATGGCGGCTCCACTAGGG	0.652000													16	23					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414640	213414640	+	Silent	SNP	T	T	C			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:213414640T>C	uc010ptr.2	+	10	1980	c.1821T>C	c.(1819-1821)gaT>gaC	p.D607D	RPS6KC1_uc001hkd.3_Silent_p.D595D|RPS6KC1_uc010pts.2_Silent_p.D395D|RPS6KC1_uc010ptt.2_Silent_p.D395D|RPS6KC1_uc010ptu.2_Silent_p.D426D|RPS6KC1_uc010ptv.2_Silent_p.D142D|RPS6KC1_uc001hke.3_Silent_p.D426D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	607					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAGTAAGGATAGCGCAAGTG	0.408000													19	54					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129854133	129854133	+	Silent	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:129854133C>G	uc004bqr.1	-	3	1598	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Silent_p.L64L	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	366	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCATGGTCACCAGGAGTTTGT	0.552000													92	198					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267764	46267764	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr20:46267764C>G	uc002xtk.3	+	13	2786	c.2525C>G	c.(2524-2526)tCa>tGa	p.S842*	NCOA3_uc002xtl.3_Nonsense_Mutation_p.S842*|NCOA3_uc002xtn.3_Nonsense_Mutation_p.S842*|NCOA3_uc010ght.2_Nonsense_Mutation_p.S852*|NCOA3_uc002xtm.3_Nonsense_Mutation_p.S842*|NCOA3_uc010zyc.2_Nonsense_Mutation_p.S637*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	842					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTGAAAAGTTCACAGTCTGTG	0.388000													40	59					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:152128277_152128280delTGTC	uc001ezs.1	-	2	1360_1363	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.R432fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													7	1154	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:71508370delA	uc003pfr.3	+	5	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													2	4	---	---	---	---					
MKLN1	4289	broad.mit.edu	37	7	131113796	131113799	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:131113796_131113799delTGTT	uc011kpm.2	+	8	916_919	c.852_855delTGTT	c.(850-855)actgttfs	p.T284fs	MKLN1_uc011kpl.2_Frame_Shift_Del_p.T261fs|MKLN1_uc010lmh.2_Frame_Shift_Del_p.T284fs|MKLN1_uc003vqs.3_Frame_Shift_Del_p.T77fs	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	284					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCATAGAGACTGTTTATTTGTTTG	0.402													20	49	---	---	---	---					
TMEM176B	28959	broad.mit.edu	37	7	150498449	150498450	+	Splice_Site	INS	-	-	G	rs5888418	by1000genomes	TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:150498449_150498450insG	uc003whw.4	-	1	1	c.-372_splice	c.e1-1		TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176A_uc003whx.1_Intron	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.						cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGTCAGCACCCCCTCTGCT	0.644													3	3	---	---	---	---					
PCM1	5108	broad.mit.edu	37	8	17867095	17867096	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:17867095_17867096delTG	uc022asj.1	+	29	5141_5142	c.5119_5120delTG	c.(5119-5121)tgtfs	p.C1707fs	PCM1_uc003wyi.4_Frame_Shift_Del_p.C1668fs|PCM1_uc011kyh.2_Frame_Shift_Del_p.C1660fs|PCM1_uc003wyj.4_Frame_Shift_Del_p.C1614fs|PCM1_uc011kyi.2_Frame_Shift_Del_p.C467fs|PCM1_uc011kyj.2_Frame_Shift_Del_p.C424fs|PCM1_uc003wyk.4_Frame_Shift_Del_p.C350fs|PCM1_uc011kyk.2_Frame_Shift_Del_p.C284fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1668	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ACTGAAAGACTGTGGAGAAGAT	0.287			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								4	9	---	---	---	---					
NUMBL	9253	broad.mit.edu	37	19	41173875	41173877	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr19:41173875_41173877delTGC	uc002oon.3	-	9	1494_1496	c.1326_1328delGCA	c.(1324-1329)cagcaa>caa	p.442_443QQ>Q	NUMBL_uc010xvq.2_In_Frame_Del_p.401_402QQ>Q|NUMBL_uc010xvr.2_In_Frame_Del_p.401_402QQ>Q|NUMBL_uc002ooo.3_In_Frame_Del_p.441_442QQ>Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	442	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.660													3	6	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:76937477_76937480delTCTC	uc004ecp.4	-	8	3500_3503	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.E1090fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E1052fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E875fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E1022fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E1061fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E1035fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1090					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.?(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)	CACCTTTTCTTCTCTCTACCATAT	0.377			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						114	74	---	---	---	---					
