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	ENST00000433060.2	+	12	2742	c.2601C>T	c.(2599-2601)caC>caT	p.H867H	AMOTL1_ENST00000317837.9_Silent_p.H454H|AMOTL1_ENST00000317829.8_Silent_p.H817H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	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	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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	ENST00000285018.4	-	4	983	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	227					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 canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|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|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	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
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	ENST00000302124.2	+	1	829	c.798G>A	c.(796-798)tcG>tcA	p.S266S	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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
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	ENST00000355209.4	-	2	535	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_ENST00000407461.1_Silent_p.G64G|POLR3H_ENST00000396504.2_Silent_p.G64G|POLR3H_ENST00000337566.5_Silent_p.G64G|POLR3H_ENST00000420561.1_Intron	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	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(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502000													29	60					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	ENST00000396556.2	-	8	1710	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A466T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	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	ENST00000345043.2	+	1	425	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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	ENST00000342274.4	-	4	740	c.378G>C	c.(376-378)ccG>ccC	p.P126P	BCOR_ENST00000378444.4_Silent_p.P126P|BCOR_ENST00000378455.4_Silent_p.P126P|BCOR_ENST00000397354.3_Silent_p.P126P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	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
WASH3P	0	broad.mit.edu	37	15	102515335	102515335	+	RNA	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.chr15:102515335C>G	ENST00000557932.1	+	0	1181																		p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652000													3	46					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81927341	81927341	+	Silent	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.chr16:81927341C>T	ENST00000359376.3	+	12	1228	c.1014C>T	c.(1012-1014)agC>agT	p.S338S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	338	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCGGAGCGAGTCGTCCC	0.617000													4	54					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	ENST00000269349.3	-	2	450	c.229G>C	c.(229-231)Gat>Cat	p.D77H		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	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	ENST00000264870.3	-	15	2369	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	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	ENST00000394809.4	-	4	1151	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	MYLK3_ENST00000536476.1_Missense_Mutation_p.G5R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	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
RP11-85G18.6	0	broad.mit.edu	37	10	27538942	27538942	+	RNA	SNP	T	T	C	rs590142	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.chr10:27538942T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCATTATTAATAGGTTCCGGA	0.537000													5	129					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	ENST00000273353.3	-	7	685	c.629T>C	c.(628-630)aTc>aCc	p.I210T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	210	Myosin head-like.					myofibril|myosin filament	actin binding|ATP 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	ENST00000271643.4	+	17	3016	c.2780G>A	c.(2779-2781)gGc>gAc	p.G927D	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G927D|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G950D	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	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	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								27	45					0	0	1	0	0
TCL6	0	broad.mit.edu	37	14	96135857	96135857	+	RNA	SNP	C	C	T	rs1748965	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.chr14:96135857C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tgagccaccacgcccggtcac	0.542000			T	TRA@	T-ALL								3	32					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	ENST00000470056.1	+	25	4375	c.4215T>C	c.(4213-4215)gcT>gcC	p.A1405A	GAPVD1_ENST00000394083.2_Silent_p.A1384A|GAPVD1_ENST00000297933.6_Silent_p.A1432A|GAPVD1_ENST00000312123.9_Silent_p.A1411A|GAPVD1_ENST00000265956.4_Silent_p.A1424A|GAPVD1_ENST00000394104.2_Silent_p.A1450A|GAPVD1_ENST00000495955.1_Silent_p.A1450A|GAPVD1_ENST00000394105.2_Silent_p.A1459A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	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	ENST00000392935.3	+	6	460	c.317C>T	c.(316-318)cCg>cTg	p.P106L	VDAC3_ENST00000522572.1_Missense_Mutation_p.P106L|VDAC3_ENST00000022615.4_Missense_Mutation_p.P105L|VDAC3_ENST00000521158.1_Missense_Mutation_p.P106L	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	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
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	ENST00000373425.3	-	4	1715	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.L64L|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	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
CTHRC1	115908	broad.mit.edu	37	8	104384811	104384811	+	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.chr8:104384811A>G	ENST00000520337.1	+	1	151	c.32A>G	c.(31-33)aAg>aGg	p.K11R	CTHRC1_ENST00000415886.2_Intron|CTHRC1_ENST00000330295.5_Intron	NM_001256099.1	NP_001243028.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	0						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ATCACAGTCAAGCTACGGGAG	0.488000													23	44					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	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.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	41					0	0	1	0	0
MRPL45P2	0	broad.mit.edu	37	17	45569815	45569815	+	RNA	SNP	A	A	G	rs2610367	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.chr17:45569815A>G	ENST00000575291.1	-	0	21																											TTGAGGTATGAGGGCTGCCAT	0.602000													4	93					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	ENST00000237380.6	+	1	32	c.8C>T	c.(7-9)gCt>gTt	p.A3V		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	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	ENST00000366960.3	+	11	1971	c.1821T>C	c.(1819-1821)gaT>gaC	p.D607D	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.D395D|RPS6KC1_ENST00000366959.3_Silent_p.D595D|RPS6KC1_ENST00000543354.1_Silent_p.D310D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	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
CACNA1E	777	broad.mit.edu	37	1	181754902	181754902	+	Silent	SNP	C	C	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.chr1:181754902C>A	ENST00000526775.1	+	42	5841	c.5676C>A	c.(5674-5676)atC>atA	p.I1892I	CACNA1E_ENST00000358338.5_Silent_p.I1843I|CACNA1E_ENST00000360108.3_Silent_p.I1892I|CACNA1E_ENST00000367573.2_Silent_p.I1911I|CACNA1E_ENST00000367567.4_Silent_p.I1518I|CACNA1E_ENST00000367570.1_Silent_p.I1911I|CACNA1E_ENST00000357570.5_Silent_p.I1862I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1911					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCAGGAGATCATTGCTAATG	0.507000													10	253					0.010729	0.010729	1	1	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	ENST00000372004.3	+	14	2741	c.2525C>G	c.(2524-2526)tCa>tGa	p.S842*	NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S852*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S842*|NCOA3_ENST00000341724.6_Intron	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	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	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)aafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(1)		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	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340	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.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1																						ACAGGGCTACCCCCAGTGACCT	0.510													2	4	---	---	---	---					
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	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	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	ENST00000352689.6	+	9	892_895	c.852_855delTGTT	c.(850-855)acfs	p.TV284fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.TV192fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	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	---	---	---	---					
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	ENST00000325083.8	+	31	5441_5442	c.5002_5003delTG	c.(5002-5004)tfs	p.C1668fs	PCM1_ENST00000327578.8_Frame_Shift_Del_p.C367fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.C1614fs|PCM1_ENST00000519253.1_Frame_Shift_Del_p.C1660fs	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1668	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|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	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372178	74372178	+	RNA	DEL	C	C	-	rs113003755		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.chr16:74372178delC	ENST00000429810.2	-	0	2018																											gtctggaactcctgacttcag	0.502													2	4	---	---	---	---					
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	ENST00000252891.4	-	10	1493_1495	c.1326_1328delGCA	c.(1324-1329)caa>ca	p.QQ444del	NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ403del|NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ403del	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	444	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	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)agfs	p.EK1090fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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)	CACCTTTTCTTCTCTCTACCATAT	0.377			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						114	74	---	---	---	---