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
IGSF10	285313	broad.mit.edu	37	3	151164878	151164878	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:151164878G>T	uc011bod.2	-	3	2891	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	964					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTGCCTGGGTTCACTCAC	0.418000													8	169					0.000157383	0.000170144	1	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:39254054A>T	uc010wfo.2	-	0	322	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(8)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	45					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600243	92600243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:92600243C>T	uc001pdj.4	+	20	12012	c.11995C>T	c.(11995-11997)Cag>Tag	p.Q3999*	FAT3_uc001pdi.4_Nonsense_Mutation_p.Q439*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3999	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCGCTGCAGAACAAGCG	0.637000										TCGA Ovarian(4;0.039)			6	5					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21392093	21392093	+	Silent	SNP	T	T	C			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:21392093T>C	uc001req.4	+	14	2150	c.2046T>C	c.(2044-2046)tcT>tcC	p.S682S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTCCCTTCTGCTGGGGCAG	0.343000													22	96					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66950067	66950067	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:66950067G>A	uc002eql.3	-	4	519	c.325C>T	c.(325-327)Cca>Tca	p.P109S	CDH16_uc010cdy.3_Missense_Mutation_p.P109S|CDH16_uc021tjx.1_Missense_Mutation_p.P109S|CDH16_uc002eqm.3_Missense_Mutation_p.P109S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACAGGCTGTGGACCCCACAAG	0.612000													19	80					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8088411	8088411	+	RNA	SNP	A	A	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr8:8088411A>G	uc011kwt.2	+	1		c.275A>G			FAM86C1_uc010lrq.2_Non-coding_Transcript|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.									p.Q48R(3)		lung(1)	1						GAGCTGCTGCAGGATATTTTG	0.488000													3	32					0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73992059	73992059	+	Splice_Site	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr15:73992059G>A	uc002avv.1	+	2	313	c.79_splice	c.e2+1	p.G27_splice	CD276_uc010bjd.1_Intron|CD276_uc002avu.1_Splice_Site_p.G27_splice|CD276_uc002avw.1_Splice_Site_p.G27_splice|CD276_uc010ulb.1_Splice_Site_p.Q14_splice	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	27					T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTGCCTCACAGGTGAGGGTAG	0.662000													5	35					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798613	12798613	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:12798613G>A	uc002dca.4	-	2	694	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	195							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGCAGTGCCGCTGCCTCGCG	0.602000													20	74					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776969	18776969	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr9:18776969C>T	uc003zne.4	+	18	2894	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	914	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAGAAGGACGGCCAGCACC	0.677000													17	42					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098527	38098527	+	Silent	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr21:38098527G>A	uc002yvr.2	+	5	707	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SIM2_uc002yvq.3_Silent_p.L217L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	217					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCAGTCGCTGCCACCCAGTG	0.542000													26	61					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834410	168834410	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:168834410G>A	uc011bpj.1	-	7	1653	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	MECOM_uc010hwk.1_Missense_Mutation_p.T252M|MECOM_uc003ffj.3_Missense_Mutation_p.T294M|MECOM_uc003ffi.3_Missense_Mutation_p.T229M|MECOM_uc011bpi.1_Missense_Mutation_p.T230M|MECOM_uc003ffn.3_Missense_Mutation_p.T229M|MECOM_uc003ffk.2_Missense_Mutation_p.T229M|MECOM_uc003ffl.2_Missense_Mutation_p.T389M|MECOM_uc011bpk.1_Missense_Mutation_p.T229M|MECOM_uc010hwn.2_Missense_Mutation_p.T417M	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.T229R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAAGGAAGACGTAGTGCTGAA	0.453000													16	125					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890949	207890949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr1:207890949G>T	uc001hga.4	+	10	1676	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	519	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCATTGGGGAGAGCACCAT	0.542000													9	165					1.76689e-08	2.0787e-08	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:15648459G>A	uc002nbh.4	+	5	702	c.535G>A	c.(535-537)Gct>Act	p.A179T		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	179						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACCAGAGCGCTGACATTAT	0.547000													5	144					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	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								17	52					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	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).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)			16	12					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137708439	137708439	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:137708439T>A	uc003lcy.1	+	1	469	c.269T>A	c.(268-270)cTt>cAt	p.L90H	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTTATCGTGCTTCTGCTGGAA	0.507000													35	59					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45797221	45797221	+	Splice_Site	SNP	G	G	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:45797221G>T	uc010slf.2	+	16	2181	c.1846_splice	c.e16-1	p.C616_splice	ANO6_uc001roo.3_Splice_Site_p.C595_splice|ANO6_uc010sld.1_Splice_Site_p.C595_splice|ANO6_uc010sle.1_Splice_Site_p.C595_splice|ANO6_uc010slg.2_Splice_Site_p.C577_splice	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	595					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAACCTTCTAGTGTGACCCAG	0.338000													8	93					0.0381472	0.040155	1	1	0
C17orf103	256302	broad.mit.edu	37	17	21147493	21147493	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:21147493G>A	uc010vzx.2	-	2	150	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	Homo sapiens chromosome 17 open reading frame 103 (C17orf103), mRNA.	51										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCACGATCCGCTTGCCCACG	0.632000													3	37					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13231079	13231079	+	Splice_Site	SNP	A	A	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:13231079A>G	uc001ima.3	+	10	1546	c.1418_splice	c.e10+1	p.I473_splice	MCM10_uc001imb.3_Splice_Site_p.I472_splice|MCM10_uc001imc.3_Splice_Site_p.I472_splice	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	473					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAGCTTCAATGTAAGACGT	0.478000													11	68					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61630533	61630533	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:61630533C>G	uc001nsl.1	+	7	1122	c.972C>G	c.(970-972)aaC>aaG	p.N324K	FADS2_uc001nsj.2_Missense_Mutation_p.N302K|FADS2_uc010rlo.1_Missense_Mutation_p.N293K|FADS2_uc001nsk.3_Missense_Mutation_p.N324K	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	324					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TTTTCCTCAACTTCATCAGGT	0.577000													4	79					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114912156	114912156	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:114912156T>G	uc021pyi.1	+	10	1733	c.1226T>G	c.(1225-1227)cTt>cGt	p.L409R	TCF7L2_uc001lah.3_Missense_Mutation_p.L391R|TCF7L2_uc010qro.2_Missense_Mutation_p.L386R|TCF7L2_uc001lae.4_Missense_Mutation_p.L409R|TCF7L2_uc010qrm.2_Missense_Mutation_p.L409R|TCF7L2_uc010qrn.2_Missense_Mutation_p.L352R|TCF7L2_uc021pyg.1_Missense_Mutation_p.L125R|TCF7L2_uc021pyh.1_Missense_Mutation_p.L391R|TCF7L2_uc021pyj.1_Missense_Mutation_p.L409R|TCF7L2_uc021pyk.1_Missense_Mutation_p.L391R|TCF7L2_uc021pyl.1_Missense_Mutation_p.L391R|TCF7L2_uc010qrp.2_Missense_Mutation_p.L386R|TCF7L2_uc021pym.1_Missense_Mutation_p.L382R|TCF7L2_uc021pyn.1_Missense_Mutation_p.L414R|TCF7L2_uc021pyo.1_Missense_Mutation_p.L414R|TCF7L2_uc021pyp.1_Missense_Mutation_p.L405R|TCF7L2_uc010qrq.2_Missense_Mutation_p.L382R|TCF7L2_uc001lac.4_Missense_Mutation_p.L386R|TCF7L2_uc010qrk.2_Missense_Mutation_p.L386R|TCF7L2_uc001lad.4_Missense_Mutation_p.L382R|TCF7L2_uc001lag.4_Missense_Mutation_p.L433R|TCF7L2_uc001laf.4_Missense_Mutation_p.L386R|TCF7L2_uc010qrl.2_Missense_Mutation_p.L386R|TCF7L2_uc010qrr.2_Missense_Mutation_p.L324R|TCF7L2_uc010qrs.2_Missense_Mutation_p.L280R|TCF7L2_uc010qrt.2_Missense_Mutation_p.L280R|TCF7L2_uc010qru.2_Missense_Mutation_p.L308R|TCF7L2_uc010qrv.2_Missense_Mutation_p.L226R|TCF7L2_uc010qrw.2_Missense_Mutation_p.L113R|TCF7L2_uc010qrx.2_Missense_Mutation_p.L266R|Mir_652_uc021pyq.1_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	409					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCGACAGCTTCATATGCAA	0.527000			T	VTI1A	colorectal								21	204					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734264	12734264	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:12734264C>T	uc004cuz.2	+	14	2192	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	FRMPD4_uc011mij.2_Silent_p.G554G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	562					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTTATTGGCGAAGGGGAAC	0.468000													9	75					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6709693	6709693	+	Splice_Site	SNP	A	A	G			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:6709693A>G	uc002mfm.3	-	14	1907	c.1845_splice	c.e14+1	p.K615_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	615					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627000													26	181					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586070	50586070	+	Splice_Site	SNP	G	G	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr13:50586070G>A	uc001vdp.1	+	4	422	c.4_splice	c.e4-1	p.D2_splice	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Splice_Site|TRIM13_uc001vdr.1_Splice_Site|TRIM13_uc001vds.1_Splice_Site|TRIM13_uc021rjq.1_5'Flank	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	103					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTTCTGGTAGGATGTGATGG	0.373000													26	65					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176857877	176857877	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:176857877C>T	uc021yit.1	+	1	217	c.57C>T	c.(55-57)ggC>ggT	p.G19G	GRK6_uc003mgq.2_Silent_p.G19G|GRK6_uc021yiu.1_Silent_p.G19G|GRK6_uc003mgs.1_5'Flank	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	19	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAGGTGGCGGTGGAAATC	0.612000													9	24					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1552970	1552970	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:1552970C>A	uc002cly.3	+	14	2100	c.1809C>A	c.(1807-1809)aaC>aaA	p.N603K		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	603						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATGCCCTCAACTACAGCCTCC	0.642000													6	142					5.18039e-06	5.92045e-06	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2696820	2696820	+	Silent	SNP	C	C	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr4:2696820C>T	uc010ick.3	+	15	2968	c.2967C>T	c.(2965-2967)tgC>tgT	p.C989C	FAM193A_uc003gfd.3_Silent_p.C789C|FAM193A_uc011bvm.2_Silent_p.C811C|FAM193A_uc011bvn.2_Silent_p.C789C|FAM193A_uc010icl.3_Silent_p.C789C|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Intron|FAM193A_uc003gfe.2_Silent_p.C643C	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	789								p.H989N(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCAAGTACTGCGACTGCTGCT	0.582000													5	50					0	0	1	0	0
EIF3IP1	442720	broad.mit.edu	37	7	109599839	109599839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr7:109599839C>A	uc003vfp.1	-	0	432	c.259G>T	c.(259-261)Gag>Tag	p.E87*						Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																		AGGTAGCACTCATTGCTGTCA	0.493000													5	31					1.23904e-05	1.37671e-05	1	1	0
ZNF876P	642280	broad.mit.edu	37	4	248382	248382	+	RNA	SNP	A	A	C			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr4:248382A>C	uc010iba.3	+	1		c.1216A>C								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		CTGGGCAAAAACCCTACAAAT	0.373000													7	6					0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45221460	45221460	+	Missense_Mutation	SNP	G	G	A	rs140257857		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr22:45221460G>A	uc003bfd.3	+	11	1490	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.V317I|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.V231I|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.V195I|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.V195I|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.V226I|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.V195I|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCAGTTTGGCGTCAGTCTGCA	0.642000													3	28					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:76938654_76938655insT	uc004ecp.4	-	8	2325_2326	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K660fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K483fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K630fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K669fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K643fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	698					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.K697R(1)|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)	TACGCTTATCCTTTTTTCTCAC	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						77	55	---	---	---	---					
