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
MMEL1	79258	broad.mit.edu	37	1	2526254	2526254	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:2526254G>T	uc001ajy.2	-	17	1877	c.1663C>A	c.(1663-1665)CTT>ATT	p.L555I	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	555	Potential.|Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTTCCCGAAGCTTCCTGAGG	0.627000													4	68					2.56e-06	2.97674e-06	0.009096	1	0
PRAMEF8	391002	broad.mit.edu	37	1	12979789	12979789	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:12979789G>T	uc001aup.2	+	4	1064	c.981G>T	c.(979-981)AGG>AGT	p.R327S		NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN	PRAME family member 8	327	LRR 1.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCTGAGGGGTGTCACGC	0.572000													9	163					0.00621372	0.00690413	0.006214	1	0
GALE	2582	broad.mit.edu	37	1	24124673	24124673	+	Silent	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:24124673G>A	uc009vqo.1	-	4	495	c.285C>T	c.(283-285)GGC>GGT	p.G95G	GALE_uc001bhv.1_Silent_p.G95G|GALE_uc001bhw.1_Silent_p.G95G|GALE_uc001bhx.1_Silent_p.G95G|GALE_uc009vqp.1_Silent_p.G95G|GALE_uc001bhy.1_Silent_p.G95G|GALE_uc001bhz.1_Silent_p.G21G|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	95					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACCGACTCGCCCACGGCCT	0.557000													22	44					0	0	0.021523	0	0
VPS72	6944	broad.mit.edu	37	1	151158055	151158055	+	Silent	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:151158055C>T	uc001exe.1	-	3	355	c.312G>A	c.(310-312)CCG>CCA	p.P104P	VPS72_uc001exf.1_Silent_p.P104P	NM_005997	NP_005988	Q15906	VPS72_HUMAN	transcription factor-like 1	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|pancreas(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTACCAGCCGGGGTGTTGA	0.448000													17	194					0	0	0.006122	0	0
LYST	1130	broad.mit.edu	37	1	235964233	235964233	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:235964233A>C	uc001hxj.2	-	9	4052	c.3877T>G	c.(3877-3879)TTT>GTT	p.F1293V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.F1293V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTCTCAAATACATGGGCA	0.308000									Chediak-Higashi_syndrome				3	56					0	0	0.004672	0	0
CHRM3	1131	broad.mit.edu	37	1	240071460	240071460	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:240071460A>G	uc001hyp.2	+	5	1488	c.709A>G	c.(709-711)ATC>GTC	p.I237V		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	237	Helical; Name=5; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCACAGCCATCGCTGCTTT	0.453000													9	114					0	0	0.008291	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:38654432A>G	uc010qex.1	+	5	599	c.524A>G	c.(523-525)AAT>AGT	p.N175S	HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);												0						TCATCTCGCAATGCAAGGAAA	0.453000													3	44					0	0	0.004672	0	0
RHOD	29984	broad.mit.edu	37	11	66834308	66834308	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:66834308T>C	uc001ojv.2	+	3	405	c.320T>C	c.(319-321)ATC>ACC	p.I107T		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	107					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						TTTGACAACATCTTTAACCGG	0.572000													49	90					0	0	0.014410	0	0
GPR162	27239	broad.mit.edu	37	12	6933476	6933476	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:6933476G>A	uc001qqw.1	+	2	947	c.412G>A	c.(412-414)GTC>ATC	p.V138I	GPR162_uc010sfn.1_Missense_Mutation_p.V138I|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	138	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACTGCATGCCGTCATGGGCAT	0.612000													29	118					0	0	0.008361	0	0
PHB2	11331	broad.mit.edu	37	12	7077659	7077659	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:7077659C>T	uc001qsd.2	-	4	602	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	PHB2_uc010sft.1_Missense_Mutation_p.R131Q|PHB2_uc010sfu.1_Missense_Mutation_p.R131Q|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CGGCAACACTCGTTCCTCGTA	0.567000													14	38					0	0	0.016723	0	0
C12orf51	283450	broad.mit.edu	37	12	112605691	112605691	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:112605691A>C	uc009zwc.2	-	64	10991	c.10973T>G	c.(10972-10974)GTG>GGG	p.V3658G		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTCCTTACACACCTGCCACAG	0.632000													7	49					0	0	0.021523	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs28513925	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:132547093A>G	uc001ujn.2	+	46	8216	c.8181A>G	c.(8179-8181)CAA>CAG	p.Q2727Q	EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.294000													3	45					0	0	0.004672	0	0
SLC25A21	89874	broad.mit.edu	37	14	37198737	37198737	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr14:37198737C>T	uc001wtz.1	-	5	615	c.305G>A	c.(304-306)GGA>GAA	p.G102E		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318000													11	17					0	0	0.013537	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055683	85055683	+	RNA	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr15:85055683C>T	uc002bkm.2	-	6		c.877G>A				NR_003246				Homo sapiens cDNA FLJ33459 fis, clone BRAMY2000585.												0						CTCCTGTTCACGTAGCCTCTC	0.557000													3	2					0	0	0.004672	0	0
Unknown	0	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:15457701G>A	uc010bvf.1	-	9	812	c.812C>T	c.(811-813)GCT>GTT	p.A271V						RecName: Full=NPIP-like protein 1;																		AGGGGAGTGAGCAGACACTCG	0.562000													5	151					0	0	0.001168	0	0
ACSF3	197322	broad.mit.edu	37	16	89180844	89180844	+	Missense_Mutation	SNP	G	A	A	rs150487794	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:89180844G>A	uc002fmp.2	+	6	1415	c.1075G>A	c.(1075-1077)GAG>AAG	p.E359K	ACSF3_uc010cig.1_Missense_Mutation_p.E359K|ACSF3_uc010cih.1_Missense_Mutation_p.E94K|ACSF3_uc002fmq.1_Intron|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.E94K	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	359					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCATGACCGAGATCGGCAT	0.637000													4	94					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:7577105G>A	uc002gim.2	-	8	1027	c.833C>T	c.(832-834)CCT>CTT	p.P278L	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	278	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(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)		GTCTCTCCCAGGACAGGCACA	0.552000		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)			37	8					0	0	0.015359	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789796	8789796	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:8789796C>T	uc002glt.2	-	13	2099	c.2032G>A	c.(2032-2034)GAG>AAG	p.E678K	PIK3R5_uc010vuz.1_Missense_Mutation_p.E678K|PIK3R5_uc002glu.3_Missense_Mutation_p.E292K	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	678	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGCCTTACCTCGGTCTGATAG	0.667000													7	52					0	0	0.001984	0	0
Unknown	0	broad.mit.edu	37	17	20805993	20805993	+	RNA	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:20805993A>G	uc002gyg.1	+	4		c.1177A>G			uc002gyh.1_RNA					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		CGAACCCGTGAGAGCAGCGGC	0.632000													15	0					0	0	0.004007	0	0
CD300LG	146894	broad.mit.edu	37	17	41926022	41926022	+	Missense_Mutation	SNP	G	A	A	rs115182680	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:41926022G>A	uc002iem.2	+	2	181	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	CD300LG_uc002iek.1_Missense_Mutation_p.R47Q|CD300LG_uc002iel.1_Missense_Mutation_p.R47Q|CD300LG_uc010czk.2_Missense_Mutation_p.R47Q|CD300LG_uc010wil.1_Missense_Mutation_p.R47Q|CD300LG_uc010czl.2_Missense_Mutation_p.R47Q	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g precursor	47	Extracellular (Potential).|Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGACCACCGGAAGTACTGG	0.577000													5	78					0	0	0.014758	0	0
MTIF2	4528	broad.mit.edu	37	2	55479696	55479696	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:55479696T>C	uc002ryn.2	-	9	1495	c.758A>G	c.(757-759)GAC>GGC	p.D253G	MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.D253G	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	253	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TACGACAATGTCAGTGACCTG	0.463000													37	58					0	0	0.010771	0	0
LRP1B	53353	broad.mit.edu	37	2	141128328	141128328	+	Silent	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:141128328A>G	uc002tvj.1	-	71	11931	c.10959T>C	c.(10957-10959)GAT>GAC	p.D3653D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3653	Extracellular (Potential).|LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGAATTCCATCACACAGCC	0.393000										TSP Lung(27;0.18)			6	206					0	0	0.001984	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	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	0.393000			Mis		gliobastoma 								29	32					0	0	0.008361	0	0
SNED1	25992	broad.mit.edu	37	2	241989284	241989284	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:241989284G>A	uc002wah.1	+	12	1669	c.1669G>A	c.(1669-1671)GAT>AAT	p.D557N		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	557	EGF-like 7.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTCCTGCGATGCCCATGA	0.692000													17	57					0	0	0.008871	0	0
MYT1	4661	broad.mit.edu	37	20	62839582	62839582	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr20:62839582G>T	uc002yii.2	+	7	1397	c.1033G>T	c.(1033-1035)GAG>TAG	p.E345*	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	345					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTATTGTGGAGGTCCGCTC	0.577000													53	98					1.19258e-52	1.45437e-52	0.014410	1	0
LOC96610	96610	broad.mit.edu	37	22	23199150	23199150	+	RNA	SNP	T	C	C	rs117079039	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:23199150T>C	uc011aim.1	+	316		c.13819T>C								Parts of antibodies, mostly variable regions.												0						AGTCTGGCAATACGGCCTCCA	0.527000													5	189					0	0	0.003080	0	0
MGAT3	4248	broad.mit.edu	37	22	39883576	39883576	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:39883576A>G	uc003axv.3	+	2	463	c.224A>G	c.(223-225)TAC>TGC	p.Y75C	MGAT3_uc010gxy.2_Missense_Mutation_p.Y75C	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	75	Lumenal (Potential).|Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					ACCCCACTCTACTCCCACTCG	0.672000													23	75					0	0	0.012319	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr3:195505836G>C	uc011bto.1	-	3	12691	c.12231C>G	c.(12229-12231)CAC>CAG	p.H4077Q	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	3					0	0	0.004672	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181907	140181907	+	Silent	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr5:140181907C>T	uc003lhf.2	+	1	1125	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S375S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	375	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483000													39	83					0	0	0.006230	0	0
CRISP2	7180	broad.mit.edu	37	6	49663637	49663637	+	Silent	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:49663637A>G	uc003ozq.2	-	9	772	c.516T>C	c.(514-516)GCT>GCC	p.A172A	CRISP2_uc003ozl.2_Silent_p.A172A|CRISP2_uc003ozn.2_Silent_p.A172A|CRISP2_uc003ozr.2_Silent_p.A172A|CRISP2_uc003ozo.2_Silent_p.A172A|CRISP2_uc003ozm.2_Silent_p.S207S|CRISP2_uc003ozp.2_Silent_p.A172A	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	172						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATTATTACCACTGAAATTTG	0.348000													12	25					0	0	0.010729	0	0
C6orf167	253714	broad.mit.edu	37	6	97597800	97597800	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:97597800C>G	uc003ppb.2	-	24	3845	c.3579G>C	c.(3577-3579)TTG>TTC	p.L1193F	C6orf167_uc011eaf.1_Missense_Mutation_p.L1153F	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1193					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		GGGTAGAAATCAAGTGGATGA	0.408000													3	45					0	0	0.004672	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751125	751125	+	Silent	SNP	G	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:751125G>C	uc003siu.1	-	3	124	c.18C>G	c.(16-18)GCC>GCG	p.A6A	PRKAR1B_uc003siv.2_Silent_p.A6A|PRKAR1B_uc003siw.1_Silent_p.A6A	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	6	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCGAGGGGCAGGCGGGCGGGG	0.647000													9	63					0	0	0.006214	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651754	121651754	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:121651754C>T	uc003vjy.2	+	12	3049	c.2654C>T	c.(2653-2655)GCT>GTT	p.A885V	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	885	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ACTACTCATGCTGCTTCAGAG	0.473000													3	53					0	0	0.004672	0	0
SSPO	23145	broad.mit.edu	37	7	149489167	149489167	+	Silent	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:149489167G>A	uc010lpk.2	+	37	5412	c.5412G>A	c.(5410-5412)CAG>CAA	p.Q1804Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1804	TSP type-1 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627000													32	49					0	0	0.019004	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654899	8654899	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr8:8654899G>A	uc003wsj.1	-	2	3664	c.3101C>T	c.(3100-3102)CCG>CTG	p.P1034L		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	1034											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCACAGTCGGCGTGGGTGG	0.557000													20	26					0	0	0.010504	0	0
LOC442421	442421	broad.mit.edu	37	9	66500810	66500810	+	RNA	SNP	G	A	A	rs142815546	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr9:66500810G>A	uc004aed.1	+	3		c.903G>A								Homo sapiens similar to prostaglandin E receptor 4, subtype EP4; PGE receptor, EP4 subtype; prostaglandin E2 receptor, mRNA (cDNA clone IMAGE:5288780).												0						ACCTACGGTCGGTTGTGTGCA	0.637000													4	30					0	0	0.009096	0	0
NSDHL	50814	broad.mit.edu	37	X	152034375	152034375	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:152034375G>A	uc004fgt.1	+	7	817	c.556G>A	c.(556-558)GCC>ACC	p.A186T	NSDHL_uc004fgs.1_Missense_Mutation_p.A186T	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	186					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGTTCTGGGCGCCAACGATCC	0.582000													4	89					0	0	0.009096	0	0
RERE	473	broad.mit.edu	37	1	8716199	8716200	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:8716199_8716200delCT	uc001ape.2	-	3	967_968	c.157_158delAG	c.(157-159)AGTfs	p.S53fs	RERE_uc001apf.2_Frame_Shift_Del_p.S53fs|RERE_uc001aph.1_Frame_Shift_Del_p.S53fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	53					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGTGATCACTCTCAGCATAA	0.421													115	286	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201047179	201047181	+	In_Frame_Del	DEL	TCT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:201047179_201047181delTCT	uc001gvv.2	-	11	1672_1674	c.1445_1447delAGA	c.(1444-1449)AAGATG>ATG	p.K482del		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	482	Helical; Name=S2 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCCCGTACATCTTCATCAGCAT	0.571													37	70	---	---	---	---					
CCDC6	8030	broad.mit.edu	37	10	61612347	61612349	+	In_Frame_Del	DEL	TTC	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:61612347_61612349delTTC	uc001jks.3	-	2	1051_1053	c.415_417delGAA	c.(415-417)GAAdel	p.E139del		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	139	5 X 29 AA tandem repeats.|2.|Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		TAGTGAGGAATTCTTCTTCTTTC	0.360													31	65	---	---	---	---					
PCDH9	5101	broad.mit.edu	37	13	67801664	67801665	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr13:67801664_67801665delAA	uc001vik.2	-	2	1600_1601	c.908_909delTT	c.(907-909)TTTfs	p.F303fs	PCDH9_uc001vil.2_Frame_Shift_Del_p.F303fs|PCDH9_uc010thl.1_Frame_Shift_Del_p.F303fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.F303fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	303	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTTAAAGCAAAGAGTCTTTT	0.465													37	62	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	-	-	rs56192595		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr15:90320135_90320146delGGGCAGGGGCAG	uc002bon.2	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)GGGCAGGGGCAGdel	p.GQGQ199del	MESP2_uc010uqa.1_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog	199_202	13 X 2 AA tandem repeats of G-Q.|12.			Missing (in Ref. 2; AAI11414).	Notch signaling pathway	nucleus	DNA binding				0	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.462													5	6	---	---	---	---					
ZC3H7A	29066	broad.mit.edu	37	16	11864798	11864799	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:11864798_11864799delGA	uc002dbk.2	-	9	1146_1147	c.948_949delTC	c.(946-951)TCTCCTfs	p.S316fs	ZC3H7A_uc002dbl.2_Frame_Shift_Del_p.S316fs|ZC3H7A_uc002dbm.1_Intron	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	316_317						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						GGCATGCTAGGAGAGACACTGG	0.485													29	80	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29541467	29541468	+	Splice_Site	DEL	AG	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29541467_29541468delAG	uc002hgg.2	+	13	1726	c.1393_splice	c.e13-1	p.S465_splice	NF1_uc002hge.1_Splice_Site_p.S465_splice|NF1_uc002hgf.1_Splice_Site_p.S465_splice|NF1_uc002hgh.2_Splice_Site_p.S465_splice|NF1_uc010csn.1_Splice_Site_p.S325_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTGTTTTTAGAGTCTTACAT	0.292			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	21	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29576134	29576134	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29576134delC	uc002hgg.2	+	30	4440	c.4107delC	c.(4105-4107)TACfs	p.Y1369fs	NF1_uc002hgh.2_Frame_Shift_Del_p.Y1369fs|NF1_uc010csn.1_Frame_Shift_Del_p.Y1229fs|NF1_uc002hgi.1_Frame_Shift_Del_p.Y402fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1369	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	93	---	---	---	---					
MED13	9969	broad.mit.edu	37	17	60140577	60140579	+	In_Frame_Del	DEL	TCT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:60140577_60140579delTCT	uc002izo.2	-	2	227_229	c.150_152delAGA	c.(148-153)GAAGAC>GAC	p.E50del		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	50					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CAAAATGGGGTCTTCTTCTGTCA	0.443													12	140	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48198169	48198171	+	In_Frame_Del	DEL	ATC	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr19:48198169_48198171delATC	uc002phh.3	+	9	3102_3104	c.2908_2910delATC	c.(2908-2910)ATCdel	p.I971del	GLTSCR1_uc002phi.3_In_Frame_Del_p.I729del	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	971							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGTCCGGAATCATCCTCCAGA	0.680													8	39	---	---	---	---					
OBSL1	23363	broad.mit.edu	37	2	220428315	220428316	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:220428315_220428316delAT	uc010fwk.2	-	7	2498_2499	c.2441_2442delAT	c.(2440-2442)CATfs	p.H814fs	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Frame_Shift_Del_p.H289fs|OBSL1_uc002vmi.2_Frame_Shift_Del_p.H814fs|OBSL1_uc002vmj.2_Frame_Shift_Del_p.H401fs	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	814	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGAACACATGTTCTCGGGG	0.594													67	99	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:24175836_24175837delCT	uc002zyb.2	+	8	1271_1272	c.1064_1065delCT	c.(1063-1065)ACTfs	p.T355fs	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Frame_Shift_Del_p.T346fs|SMARCB1_uc002zyd.2_Frame_Shift_Del_p.T364fs	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	355					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				13	131	---	---	---	---					
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:48762551_48762552delGA	uc004dlo.1	-	4	638_639	c.634_635delTC	c.(634-636)TCCfs	p.S212fs	SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmm.1_Frame_Shift_Del_p.S240fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	212	Helical; (Potential).				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						GAAGCCGGAGGAGAGACAGGAG	0.649													5	5	---	---	---	---					
