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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GALNT5	11227	broad.mit.edu	37	2	158152216	158152216	+	Missense_Mutation	SNP	G	A	A	rs138347479		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:158152216G>A	uc002tzg.3	+	3	2038	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	595	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAATGTAACGTTGGTTGGTT	0.358000														201			8		0	0	0.047766	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768985	122768985	+	Silent	SNP	C	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:122768985C>T	uc003vkm.3	-	9	1072	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	SLC13A1_uc010lks.3_Silent_p.V225V	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	349						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGACCAAGGTCACAATTTCTT	0.418000														20			13		0	0	0.093190	0	0
SCN11A	11280	broad.mit.edu	37	3	38936278	38936278	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:38936278G>T	uc021wvy.1	-	14	2780	c.2581C>A	c.(2581-2583)Caa>Aaa	p.Q861K	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	861					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTAAGTTTTGCTTCCTGCAC	0.488000														62			42		2.24722e-20	2.67938e-20	0.048971	1	0
CECR2	27443	broad.mit.edu	37	22	18028150	18028150	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr22:18028150T>C	uc010gqw.1	+	15	3101	c.3101T>C	c.(3100-3102)aTt>aCt	p.I1034T	CECR2_uc010gqv.1_Missense_Mutation_p.I894T|CECR2_uc002zml.2_Missense_Mutation_p.I895T|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1078					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACGGAGTCATTGGGGAAGCA	0.622000														32			3		0	0	0.004672	0	0
TNXB	7148	broad.mit.edu	37	6	32053695	32053695	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:32053695G>A	uc003nzl.2	-	6	3182	c.2980C>T	c.(2980-2982)Cgc>Tgc	p.R994C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1081	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCGCATGCGCAGTTGGAAG	0.672000														42			33		0	0	0.092188	0	0
ARID1A	8289	broad.mit.edu	37	1	27105550	27105550	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:27105550C>T	uc001bmv.1	+	19	5534	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1504*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R567*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R49*|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1721					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R1721*(6)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									158			22		0	0	0.069288	0	0
BRSK2	9024	broad.mit.edu	37	11	1477639	1477639	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:1477639C>T	uc001ltm.3	+	16	2121	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	BRSK2_uc009ycv.1_Missense_Mutation_p.T599M|BRSK2_uc001lth.1_Missense_Mutation_p.T577M|BRSK2_uc001lti.3_Missense_Mutation_p.T577M|BRSK2_uc001ltl.3_Missense_Mutation_p.T577M|BRSK2_uc001ltj.3_Missense_Mutation_p.T577M|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript|BRSK2_uc009ycw.3_Missense_Mutation_p.T73M	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	577					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TACAAGGCCACGGGGGGGCCA	0.622000														13			4		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179434377	179434377	+	Silent	SNP	G	A	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:179434377G>A	uc021vsy.1	-	274	69003	c.68778C>T	c.(68776-68778)gaC>gaT	p.D22926D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D16621D|TTN_uc021vta.1_Silent_p.D16554D|TTN_uc021vtb.1_Silent_p.D16429D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23853	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGGGACGTCAGCATGTT	0.373000														17			5		0	0	0.014758	0	0
LPHN2	23266	broad.mit.edu	37	1	82408735	82408735	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:82408735C>G	uc001dit.4	+	5	661	c.480C>G	c.(478-480)tgC>tgG	p.C160W	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.C160W|LPHN2_uc001div.3_Missense_Mutation_p.C160W|LPHN2_uc009wcd.3_Missense_Mutation_p.C160W	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	160	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGCTTGGTGCAAGGACCCTC	0.408000														38			9		0	0	0.047766	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86215	86215	+	RNA	SNP	C	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chrGL000211.1:86215C>T	uc003bnz.1	+	5		c.963C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAGTTGACCCGCTGTTTGTT	0.423000														11			4		0	0	0.009096	0	0
C7orf63	79846	broad.mit.edu	37	7	89929253	89929253	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:89929253G>A	uc010lep.3	+	16	2181	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Missense_Mutation_p.A319T|C7orf63_uc011khj.2_Missense_Mutation_p.A626T|C7orf63_uc011khk.2_Missense_Mutation_p.A206T	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	644							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAACTGCAGCTCATGTCAA	0.348000														20			20		0	0	0.043863	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388948	1388948	+	Missense_Mutation	SNP	A	C	C	rs71299249	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr4:1388948A>C	uc003gdf.2	+	0	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	217					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662000														22			4		0	0	0.009096	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	C	C	rs144184696	by1000genomes	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517000														100			6		0	0	0.058154	0	0
C17orf53	78995	broad.mit.edu	37	17	42225428	42225428	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr17:42225428C>T	uc002ifi.2	+	2	494	c.257C>T	c.(256-258)aCg>aTg	p.T86M	C17orf53_uc010czq.2_Missense_Mutation_p.T86M|C17orf53_uc002ifj.2_Missense_Mutation_p.T86M|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	86										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTCCAGCACGCCCAGTGCT	0.602000														66			39		0	0	0.104719	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									48			27		0	0	0.041601	0	0
OR5M8	219484	broad.mit.edu	37	11	56258086	56258086	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:56258086A>G	uc001nix.1	-	0	761	c.761T>C	c.(760-762)cTt>cCt	p.L254P	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CATGAAGAAAAGGGTTGCATA	0.418000														50			3		0	0	0.004672	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				44			40		0	0	0.092188	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma									13			34		0	0	0.064281	0	0
JAK3	3718	broad.mit.edu	37	19	17945744	17945744	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:17945744C>A	uc002nhn.4	-	15	2216	c.2116G>T	c.(2116-2118)Gct>Tct	p.A706S	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.A706S	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	706	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CACTTGTCAGCTTCCAAGCTA	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									37			27		1.77063e-15	1.96034e-15	0.108266	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21792899	21792899	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr14:21792899G>A	uc001wag.3	+	13	1885	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E271K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.E94K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E104K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E12K|RPGRIP1_uc001wal.3_Intron|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	629					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498000														94			5		0	0	0.014758	0	0
NIPBL	25836	broad.mit.edu	37	5	37048690	37048693	+	Frame_Shift_Del	DEL	TCAG	-	-			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr5:37048690_37048693delTCAG	uc003jkl.4	+	38	7175_7178	c.6676_6679delTCAG	c.(6676-6681)tcagtcfs	p.S2226fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.S2226fs|NIPBL_uc003jkn.3_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2226					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.S2225S(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGAACTCCTCAGTCAATTTAAA	0.353													---	37	---	---	25	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	A	A	rs145334816		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:46660414_46660415insA	uc003oyj.3	+	0	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_uc010jze.3_Frame_Shift_Ins_p.E1517fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													---	95	---	---	7	---					
