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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TBCE	6905	broad.mit.edu	37	1	235594049	235594049	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr1:235594049C>T	uc001hwz.1	+	7	713	c.590C>T	c.(589-591)TCA>TTA	p.S197L	TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.S197L|TBCE_uc010pxr.1_Missense_Mutation_p.S197L|TBCE_uc001hxb.1_Missense_Mutation_p.S84L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	197	LRR 2.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CCCTCCGGTTCAGTATTAACT	0.328													3	28					0	0	0.004672	0	0
LOC387646	387646	broad.mit.edu	37	10	27538569	27538569	+	Missense_Mutation	SNP	G	A	A	rs11015624	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:27538569G>A	uc001its.2	-	1	2667	c.824C>T	c.(823-825)CCT>CTT	p.P275L		NR_003525				SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555;												0						CAGGTCCAAAGGTTGAACTGT	0.478													13	250					0	0	0.020292	0	0
VWA2	340706	broad.mit.edu	37	10	116032596	116032596	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:116032596G>A	uc001lbl.1	+	6	790	c.469G>A	c.(469-471)GTC>ATC	p.V157I	VWA2_uc001lbk.1_Missense_Mutation_p.V157I|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	157	VWFA 1.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTCATCATCGTCACTGATGG	0.567													9	43					0	0	0.004482	0	0
CLRN3	119467	broad.mit.edu	37	10	129676535	129676535	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:129676535C>T	uc001lka.1	-	3	722	c.559G>A	c.(559-561)GTC>ATC	p.V187I	CLRN3_uc001ljz.1_Missense_Mutation_p.V119I	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	187	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGAAGAATGACGAGCAGTATG	0.468													52	97					0	0	0.014410	0	0
C12orf32	83695	broad.mit.edu	37	12	2994612	2994612	+	Missense_Mutation	SNP	A	G	G	rs142328102	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr12:2994612A>G	uc001qlh.2	+	2	248	c.80A>G	c.(79-81)AAA>AGA	p.K27R	TULP3_uc010sef.1_Intron|C12orf32_uc010see.1_Missense_Mutation_p.K27R|C12orf32_uc001qli.2_Intron	NR_027363				RecName: Full=Uncharacterized protein C12orf32;												0			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GAGGGCCCCAAACACAGCTGT	0.577													3	42					0	0	0.004672	0	0
DKFZp686A1627	266695	broad.mit.edu	37	13	19625370	19625370	+	RNA	SNP	A	G	G	rs7994268	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr13:19625370A>G	uc001umb.1	-	8		c.3153T>C				NR_002801				Homo sapiens mRNA; cDNA DKFZp686A1627 (from clone DKFZp686A1627).												0						TGTCCTTCACACAGATCAGGC	0.567													3	22					0	0	0.004672	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24234628	24234628	+	Silent	SNP	C	T	T	rs138676880	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr13:24234628C>T	uc001uov.1	+	7	799	c.735C>T	c.(733-735)TGC>TGT	p.C245C	TNFRSF19_uc001uot.2_Silent_p.C245C|TNFRSF19_uc010tcu.1_Silent_p.C113C|TNFRSF19_uc001uow.2_Silent_p.C245C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	245	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCAGACCTGCGGTAAGTTCA	0.557													5	20					0	0	0.014758	0	0
ACSM5	54988	broad.mit.edu	37	16	20432615	20432615	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:20432615A>G	uc002dhe.2	+	5	806	c.659A>G	c.(658-660)AAG>AGG	p.K220R		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	220					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						ATGAGGACAAAGAGTCGAGAC	0.522													17	25					0	0	0.004990	0	0
NLRC5	84166	broad.mit.edu	37	16	57075470	57075470	+	Missense_Mutation	SNP	G	A	A	rs148873682	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:57075470G>A	uc002ekk.1	+	18	3238	c.3013G>A	c.(3013-3015)GGT>AGT	p.G1005S	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.G754S|NLRC5_uc002ekl.2_Missense_Mutation_p.G810S|NLRC5_uc002ekm.2_Missense_Mutation_p.G810S|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_5'UTR|NLRC5_uc002ekq.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1005	LRR 9.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.G1005S(1)		ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CTGCCACCTCGGTCACCTCCA	0.532													7	23					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			23	10					0	0	0.012319	0	0
Unknown	0	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	T	T	rs34700711	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:37188240C>T	uc002hrd.1	+	1		c.2082C>T								Homo sapiens cDNA FLJ43826 fis, clone TESTI4002703.																		ACAGTTCAACCTCTGGACCTG	0.512													6	78					0	0	0.021553	0	0
Unknown	0	broad.mit.edu	37	17	37188613	37188613	+	RNA	SNP	C	T	T	rs35008241	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:37188613C>T	uc002hrd.1	+	1		c.2455C>T								Homo sapiens cDNA FLJ43826 fis, clone TESTI4002703.																		TGTCGTGTATCGATCTCAGCC	0.512													7	113					0	0	0.003080	0	0
LOC651250	651250	broad.mit.edu	37	17	66123432	66123432	+	RNA	SNP	T	G	G	rs8064704	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:66123432T>G	uc002jgq.2	+	6		c.2555T>G			LOC651250_uc002kit.2_RNA|LOC651250_uc002jgo.1_Intron	NR_027418				Homo sapiens cDNA FLJ33831 fis, clone CTONG2003937.												0						TGGAATGTACTACTCGTTTAG	0.363													3	19					0	0	0.004672	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr18:14513764C>T	uc010dln.2	-	10	1884	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	477										skin(3)	3						AAGTTGTTTCCGGGTATCATT	0.358													4	48					0	0	0.009096	0	0
HKR1	284459	broad.mit.edu	37	19	37835619	37835619	+	Silent	SNP	C	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:37835619C>G	uc002ogb.2	+	3	302	c.33C>G	c.(31-33)CTC>CTG	p.L11L	HKR1_uc002ofx.2_Intron|HKR1_uc002ofy.2_Intron|HKR1_uc002ofz.2_Intron|HKR1_uc002oga.2_Intron|HKR1_uc010xto.1_Intron|HKR1_uc002ogc.2_Intron|HKR1_uc010xtp.1_Intron|HKR1_uc002ogd.2_5'Flank	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACAATGCTCCCTACATGCA	0.289													12	77					0	0	0.013537	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873158	37873158	+	Missense_Mutation	SNP	G	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:37873158G>T	uc002rqi.1	-	2	1566	c.573C>A	c.(571-573)AGC>AGA	p.S191R		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	191					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				GTTCGGACAGGCTGGAGGAGT	0.592													14	43					3.27435e-08	3.5363e-08	0.020292	1	0
RGPD4	285190	broad.mit.edu	37	2	108475958	108475958	+	Missense_Mutation	SNP	A	G	G	rs142985549	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:108475958A>G	uc010ywk.1	+	11	1664	c.1582A>G	c.(1582-1584)AGA>GGA	p.R528G	RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	528					intracellular transport		binding			skin(2)	2						TTGTACAGAAAGACAAAAATC	0.393													10	283					0	0	0.006214	0	0
RGPD4	285190	broad.mit.edu	37	2	108496435	108496435	+	Missense_Mutation	SNP	T	A	A	rs832352		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:108496435T>A	uc010ywk.1	+	21	5018	c.4936T>A	c.(4936-4938)TGG>AGG	p.W1646R	RGPD4_uc002tdu.2_Missense_Mutation_p.W833R|RGPD4_uc010ywl.1_RNA	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1646					intracellular transport		binding			skin(2)	2						GCCTCCATTATGGCATGCTGA	0.358													5	92					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179498807	179498807	+	Missense_Mutation	SNP	A	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:179498807A>T	uc010zfg.1	-	180	34939	c.34715T>A	c.(34714-34716)ATA>AAA	p.I11572K	TTN_uc010zfh.1_Missense_Mutation_p.I5267K|TTN_uc010zfi.1_Missense_Mutation_p.I5200K|TTN_uc010zfj.1_Missense_Mutation_p.I5075K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12499							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTCTTATACCTGAAAT	0.368													10	45					0	0	0.008291	0	0
MYO1B	4430	broad.mit.edu	37	2	192234306	192234306	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:192234306C>G	uc010fsg.2	+	12	1326	c.1071C>G	c.(1069-1071)TAC>TAG	p.Y357*	MYO1B_uc002usq.2_Nonsense_Mutation_p.Y357*|MYO1B_uc002usr.2_Nonsense_Mutation_p.Y357*	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	357	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAACCTCTACAGCAGGTTGT	0.328													11	36					0	0	0.013537	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								23	42					0	0	0.016522	0	0
FAM182B	728882	broad.mit.edu	37	20	25848617	25848617	+	RNA	SNP	A	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr20:25848617A>G	uc002wvd.1	-	1		c.170T>C								Homo sapiens cDNA FLJ30282 fis, clone BRACE2002803.												0						ggcaggcctgaggctgggatg	0													2	2					0	0	0.004672	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127718	20127718	+	Missense_Mutation	SNP	G	A	A	rs150375510	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr22:20127718G>A	uc002zrq.2	+	5	744	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R213Q|ZDHHC8_uc010gsa.2_Intron	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	213	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CTGGTCACTCGGGGGCGCACC	0.647													3	26					0	0	0.004672	0	0
LTF	4057	broad.mit.edu	37	3	46479431	46479431	+	Missense_Mutation	SNP	G	A	A	rs137886255		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:46479431G>A	uc003cpq.2	-	16	2136	c.2098C>T	c.(2098-2100)CCC>TCC	p.P700S	LTF_uc003fzr.2_Missense_Mutation_p.P656S|LTF_uc010hjh.2_Missense_Mutation_p.P698S|LTF_uc003cpr.2_Missense_Mutation_p.P687S	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	700					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GTCTACTTACGGGAGGTTGAG	0.458													15	163					0	0	0.006122	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081122	193081122	+	Missense_Mutation	SNP	G	T	T	rs12637558	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:193081122G>T	uc011bsq.1	-	3	287	c.287C>A	c.(286-288)TCC>TAC	p.S96Y		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96Y(1)		ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													4	75					0.00024832	0.000264657	0.009096	1	0
UGT2B7	7364	broad.mit.edu	37	4	69974040	69974040	+	Missense_Mutation	SNP	C	T	T	rs139693571	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr4:69974040C>T	uc003heg.3	+	5	1356	c.1310C>T	c.(1309-1311)TCA>TTA	p.S437L	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	437					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						AATGATCCTTCGTGAGTAGAA	0.388													5	95					0	0	0.014758	0	0
NAIP	4671	broad.mit.edu	37	5	70308329	70308329	+	Silent	SNP	G	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr5:70308329G>A	uc003kar.1	-	4	1132	c.414C>T	c.(412-414)TAC>TAT	p.Y138Y	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	138					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.Y138Y(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483													7	108					0	0	0.003080	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940204	82940204	+	Silent	SNP	G	A	A	rs141242336	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr5:82940204G>A	uc003kim.2	-	3	824	c.753C>T	c.(751-753)TTC>TTT	p.F251F	HAPLN1_uc003kin.2_Silent_p.F251F	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	251	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATGTAAAACAGAAAACATCAT	0.413													4	77					0	0	0.014758	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956151	45956151	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr7:45956151T>C	uc003tns.2	-	3	878	c.746A>G	c.(745-747)AAG>AGG	p.K249R	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.K255R|IGFBP3_uc003tnt.2_Missense_Mutation_p.K152R	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	249	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	ACTCACCTGCTTTTTCTTATA	0.478													6	74					0	0	0.001984	0	0
GNG11	2791	broad.mit.edu	37	7	93555446	93555446	+	Missense_Mutation	SNP	G	A	A	rs138791795	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr7:93555446G>A	uc003und.2	+	2	574	c.140G>A	c.(139-141)CGT>CAT	p.R47H		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	47					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTGAAGAACGTTCTGGAGAG	0.343													6	95					0	0	0.003080	0	0
PTENP1	11191	broad.mit.edu	37	9	33675629	33675629	+	Missense_Mutation	SNP	A	C	C	rs7849845	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr9:33675629A>C	uc003zth.3	-	1	1790	c.919T>G	c.(919-921)TTT>GTT	p.F307V		NR_023917				SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment;												0						TTCACCTTAAAATTTGGAGAA	0.383													5	116					0	0	0.014758	0	0
SSX5	6758	broad.mit.edu	37	X	48053571	48053571	+	Missense_Mutation	SNP	T	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:48053571T>A	uc004dja.1	-	4	327	c.274A>T	c.(274-276)AAT>TAT	p.N92Y	SSX5_uc004diz.1_Missense_Mutation_p.N133Y	NM_175723	NP_783729	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform b	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						TCACCCTGATTCCCACGGTTA	0.502													20	89					0	0	0.007413	0	0
TRPC5	7224	broad.mit.edu	37	X	111155560	111155560	+	Silent	SNP	G	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:111155560G>A	uc004epl.1	-	3	1778	c.859C>T	c.(859-861)CTG>TTG	p.L287L	TRPC5_uc004epm.1_Silent_p.L287L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	287	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AACTTGGCCAGGTCATGGTAC	0.517													6	117					0	0	0.021553	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242329	118242329	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:118242329C>A	uc004era.3	-	6	883	c.883G>T	c.(883-885)GTC>TTC	p.V295F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	295										ovary(4)|skin(1)	5						GCAACCCAGACTGCACTTGTA	0.338													40	77					6.99958e-10	7.6617e-10	0.027894	1	0
LIPE	3991	broad.mit.edu	37	19	42906913	42906914	+	Frame_Shift_Ins	INS	-	G	G	rs7246232	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:42906913_42906914insG	uc002otr.2	-	9	3089_3090	c.2812_2813insC	c.(2812-2814)CGTfs	p.R938fs	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	938					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				GAAGGCGGCACGGACGCCCAGG	0.604													11	19	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938832	76938832	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:76938832delA	uc004ecp.3	-	9	2148	c.1916delT	c.(1915-1917)TTGfs	p.L639fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.L601fs|ATRX_uc004eco.3_Frame_Shift_Del_p.L424fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.L571fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.L610fs|ATRX_uc010nly.1_Frame_Shift_Del_p.L584fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	639					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATTTTCAACCAAATGCTCATT	0.413			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						129	250	---	---	---	---					
