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
C1orf159	54991	broad.mit.edu	37	1	1019628	1019628	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:1019628G>A	uc001act.2	-	11	1201	c.715C>T	c.(715-717)CGG>TGG	p.R239W	C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc010nyd.1_Intron|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Intron|C1orf159_uc001acn.2_Missense_Mutation_p.R203W|C1orf159_uc001acp.2_Intron	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	hypothetical protein LOC54991	239	Pro-rich.					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGGGGTGGCCGAGATCCAGAG	0.662000													6	40					0	0	0.001984	0	0
CNR2	1269	broad.mit.edu	37	1	24201753	24201753	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:24201753C>T	uc001bif.2	-	2	482	c.355G>A	c.(355-357)GCC>ACC	p.A119T		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	119	Helical; Name=3; (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CCCACAGAGGCTGTGAAGGTC	0.537000													7	76					0	0	0.003080	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957173	33957173	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:33957173G>A	uc001bxj.3	+	6	1482	c.1315G>A	c.(1315-1317)GAG>AAG	p.E439K	ZSCAN20_uc001bxk.2_Missense_Mutation_p.E385K|ZSCAN20_uc009vui.2_Missense_Mutation_p.E439K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	439					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAGATGGATGAGCAGGAGGA	0.612000													39	54					0	0	0.005524	0	0
OSCP1	127700	broad.mit.edu	37	1	36898067	36898067	+	Missense_Mutation	SNP	T	C	C	rs34409118	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:36898067T>C	uc001cap.2	-	4	503	c.421A>G	c.(421-423)ACC>GCC	p.T141A	OSCP1_uc001caq.2_Missense_Mutation_p.T131A|OSCP1_uc001car.2_Missense_Mutation_p.T131A	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	141					transport	basal plasma membrane		p.T141A(1)		ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGCAGGATGGTTGGGGAGTCT	0.502000													6	99					0	0	0.001168	0	0
Unknown	0	broad.mit.edu	37	1	108918854	108918854	+	RNA	SNP	C	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:108918854C>G	uc001dvq.2	+	2		c.293C>G				NM_001143989				neuroblastoma breakpoint family, member 4																		TCCGAGACCTCAAAGAGAAGT	0.478000													12	2					0	0	0.013537	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617222	183617222	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:183617222A>T	uc001gqn.2	-	2	967	c.695T>A	c.(694-696)ATA>AAA	p.I232K	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	232					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						TACGCCTGTTATGGCATTGAT	0.428000													10	117					0	0	0.013537	0	0
SNAP47	116841	broad.mit.edu	37	1	227935682	227935682	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:227935682C>T	uc001hrf.2	+	2	794	c.380C>T	c.(379-381)TCC>TTC	p.S127F	SNAP47_uc001hqz.2_Missense_Mutation_p.S82F|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.S127F|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.S82F	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	127						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						TGGTTCAGCTCCCTGCGGCCA	0.552000													9	84					0	0	0.006214	0	0
OR2T35	403244	broad.mit.edu	37	1	248801904	248801904	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:248801904G>A	uc001ies.1	-	1	656	c.656C>T	c.(655-657)ACG>ATG	p.T219M		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGATGTGCGTGTAGGACAC	0.522000													5	64					0	0	0.000602	0	0
ARMC3	219681	broad.mit.edu	37	10	23290958	23290958	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr10:23290958G>A	uc001irm.3	+	12	1619	c.1536G>A	c.(1534-1536)CTG>CTA	p.L512L	ARMC3_uc010qcv.1_Silent_p.L512L|ARMC3_uc010qcw.1_Silent_p.L249L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	512							binding				0						GTGACGAGCTGACGGCCAATG	0.547000													4	55					0	0	0.009096	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762132	62762132	+	Silent	SNP	A	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:62762132A>G	uc001nwo.2	-	8	1234	c.1098T>C	c.(1096-1098)GAT>GAC	p.D366D	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.D366D|SLC22A8_uc009yom.2_Silent_p.D243D|SLC22A8_uc010rmm.1_Silent_p.D275D|SLC22A8_uc009yon.2_Silent_p.D366D	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	366	Helical; (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						TGGCTGGGACATCGACCCCAC	0.547000													23	22					0	0	0.014323	0	0
SF3B2	10992	broad.mit.edu	37	11	65835634	65835634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:65835634G>A	uc001ogy.1	+	21	2486	c.2446G>A	c.(2446-2448)GGC>AGC	p.G816S	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	816					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						GAGCCGGAAGGGCCCGGCTCC	0.572000											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	74					0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7586252	7586252	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:7586252C>T	uc001qsy.2	-	3	189	c.163G>A	c.(163-165)GGT>AGT	p.G55S	CD163L1_uc010sge.1_Missense_Mutation_p.G55S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	55	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GAGCAGGGACCGTCTCCATTG	0.468000													30	78					0	0	0.008361	0	0
APOBEC1	339	broad.mit.edu	37	12	7805277	7805277	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:7805277T>G	uc001qtb.2	-	3	233	c.199A>C	c.(199-201)ATA>CTA	p.I67L	APOBEC1_uc001qtc.2_Missense_Mutation_p.I22L|APOBEC1_uc010sgf.1_Missense_Mutation_p.I67L	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	67					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						aatttttttataaaattaaCT	0.473000													4	50					0	0	0.009096	0	0
LOC653113	653113	broad.mit.edu	37	12	8384474	8384474	+	RNA	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:8384474C>T	uc010sgk.1	-	5		c.1314G>A				NR_024254				Homo sapiens family with sequence similarity 86, member A pseudogene (LOC653113), non-coding RNA.												0						TGGCCAGAAGCTGAAATGACG	0.577000													4	13					0	0	0.009096	0	0
PDE3A	5139	broad.mit.edu	37	12	20522831	20522831	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:20522831G>C	uc001reh.1	+	1	635	c.613G>C	c.(613-615)GTG>CTG	p.V205L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	205	Helical; (Potential).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GACATGGCTGGTGCTGAGGCT	0.647000													4	36					0	0	0.000602	0	0
ESPL1	9700	broad.mit.edu	37	12	53682342	53682342	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:53682342G>A	uc001sck.2	+	20	4658	c.4567G>A	c.(4567-4569)GGC>AGC	p.G1523S	ESPL1_uc001scj.2_Missense_Mutation_p.G1198S	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1523					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TCCAGCTCCGGGCCCTGAGGC	0.577000											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0.009096	0	0
ATP2B1	490	broad.mit.edu	37	12	90013816	90013816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:90013816G>A	uc001tbh.2	-	10	1970	c.1789C>T	c.(1789-1791)CGA>TGA	p.R597*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R597*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R267*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	597	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						CTGAATATTCGATAACTTCCA	0.348000													10	103					0	0	0.006214	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:106820975C>T	uc001tlp.2	+	13	1324	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTTTTTTAGCTTTTATCTCT	0.274000													6	14					0	0	0.001168	0	0
DKFZp686A1627	266695	broad.mit.edu	37	13	19625340	19625340	+	RNA	SNP	G	A	A	rs9553323	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:19625340G>A	uc001umb.1	-	8		c.3183C>T				NR_002801				Homo sapiens mRNA; cDNA DKFZp686A1627 (from clone DKFZp686A1627).												0						CCCCACAGTCGATGTGGAAGT	0.582000													4	27					0	0	0.000602	0	0
NBEA	26960	broad.mit.edu	37	13	36242525	36242525	+	Silent	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:36242525C>T	uc001uvb.2	+	57	8825	c.8619C>T	c.(8617-8619)GAC>GAT	p.D2873D	NBEA_uc010abi.2_Silent_p.D1531D|NBEA_uc010tef.1_Silent_p.D666D|NBEA_uc001uvd.2_Silent_p.D451D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2873	WD 4.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAGCAGTGACGGCCAGAACC	0.423000													8	9					0	0	0.003080	0	0
MLNR	2862	broad.mit.edu	37	13	49796306	49796306	+	Silent	SNP	C	T	T	rs150012357		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:49796306C>T	uc010tgj.1	+	2	1032	c.1032C>T	c.(1030-1032)TTC>TTT	p.F344F		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	344	Helical; Name=7; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TGCAACTTTTCTATCTGAGCG	0.473000													22	168					0	0	0.014323	0	0
TEP1	7011	broad.mit.edu	37	14	20848403	20848403	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:20848403T>G	uc001vxe.2	-	34	5034	c.4994A>C	c.(4993-4995)AAT>ACT	p.N1665T	TEP1_uc010ahk.2_Missense_Mutation_p.N1008T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.N1557T|TEP1_uc010tlh.1_Missense_Mutation_p.N3T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1665					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGCTGATTTTTCATGGT	0.522000													13	160					0	0	0.002450	0	0
C14orf19	280655	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	C	C	rs1967723	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:35409214T>C	uc010tpo.1	+	1		c.87T>C				NR_002937				Homo sapiens chromosome 14 open reading frame 19 protein (C14orf19) mRNA, 3' UTR.												0						CAACTTCTAATTCATCTCGCC	0.448000													8	68					0	0	0.004482	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36226110	36226110	+	Silent	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:36226110T>C	uc001wti.2	-	7	943	c.552A>G	c.(550-552)CAA>CAG	p.Q184Q	RALGAPA1_uc001wtj.2_Silent_p.Q184Q|RALGAPA1_uc010tpv.1_Silent_p.Q184Q|RALGAPA1_uc010tpw.1_Silent_p.Q184Q|RALGAPA1_uc001wtk.1_Silent_p.Q35Q	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	184					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						CTATAGTGACTTGAGCTATCC	0.313000													12	85					0	0	0.001855	0	0
SYNE2	23224	broad.mit.edu	37	14	64465019	64465019	+	Missense_Mutation	SNP	G	A	A	rs150464227	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:64465019G>A	uc001xgm.2	+	26	3556	c.3326G>A	c.(3325-3327)AGT>AAT	p.S1109N	SYNE2_uc001xgl.2_Missense_Mutation_p.S1109N	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1109	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGATTACAGTGCATCTATA	0.363000													4	57					0	0	0.009096	0	0
ADAM6	8755	broad.mit.edu	37	14	107062209	107062209	+	RNA	SNP	G	T	T	rs1778	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:107062209G>T	uc010tyt.1	-	131		c.6386C>A								Parts of antibodies, mostly variable regions.												0						ACGTGTCTACGGACATGGTGA	0.577000													12	142					1.5842e-08	1.66211e-08	0.001855	1	0
LOC646214	646214	broad.mit.edu	37	15	21936464	21936464	+	RNA	SNP	C	T	T	rs8025772	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr15:21936464C>T	uc010tzj.1	-	1		c.4276G>A				NR_027053				Homo sapiens mRNA for p21-activated kinase 2 variant protein.												0						GTTATGCAGACCATTTCTTTA	0.328000													9	40					0	0	0.004482	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815104	1815104	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:1815104G>A	uc002cmk.2	+	20	2488	c.2368G>A	c.(2368-2370)GCC>ACC	p.A790T	MAPK8IP3_uc002cml.2_Missense_Mutation_p.A784T|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.A791T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	790					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GATCATCGACGCCAACCAGCC	0.637000													17	31					0	0	0.004007	0	0
XPO6	23214	broad.mit.edu	37	16	28145181	28145181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:28145181G>A	uc002dpa.1	-	11	2018	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	XPO6_uc002dpb.1_Missense_Mutation_p.T492M|XPO6_uc010vcp.1_Missense_Mutation_p.T506M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	506					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GAAGGCGTGCGTGGGCAGGAG	0.582000													17	19					0	0	0.006122	0	0
USP6	9098	broad.mit.edu	37	17	5076164	5076164	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:5076164T>C	uc002gau.1	+	38	6342	c.4112T>C	c.(4111-4113)ATA>ACA	p.I1371T	USP6_uc002gav.1_Missense_Mutation_p.I1371T|USP6_uc010ckz.1_Missense_Mutation_p.I1054T	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1371					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						CAGCAGGGGATAGACTACGCA	0.423000			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								15	126					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	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	0.542000	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)			17	20					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:7578206T>C	uc002gim.2	-	6	837	c.643A>G	c.(643-645)AGT>GGT	p.S215G	TP53_uc002gig.1_Missense_Mutation_p.S215G|TP53_uc002gih.2_Missense_Mutation_p.S215G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.S83G|TP53_uc010cng.1_Missense_Mutation_p.S83G|TP53_uc002gii.1_Missense_Mutation_p.S83G|TP53_uc010cnh.1_Missense_Mutation_p.S215G|TP53_uc010cni.1_Missense_Mutation_p.S215G|TP53_uc002gij.2_Missense_Mutation_p.S215G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.S122G|TP53_uc002gio.2_Missense_Mutation_p.S83G|TP53_uc010vug.1_Missense_Mutation_p.S176G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	215	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> R (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (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.S215R(16)|p.S215I(15)|p.0?(7)|p.S215G(6)|p.S215N(6)|p.S215C(5)|p.S215fs*32(4)|p.S215T(3)|p.S215S(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.H214_S215insX(1)|p.D208_V216delDRNTFRHSV(1)|p.S215fs*29(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V216insX(1)|p.R213fs*32(1)|p.R209fs*6(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)		ACCACCACACTATGTCGAAAA	0.537000		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)			21	30					0	0	0.002780	0	0
HNF1B	6928	broad.mit.edu	37	17	36093661	36093661	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:36093661C>T	uc002hok.3	-	3	919	c.698G>A	c.(697-699)CGC>CAC	p.R233H	HNF1B_uc010wdi.1_Missense_Mutation_p.R207H|HNF1B_uc010cve.1_Missense_Mutation_p.R41H	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	233	Homeobox; HNF1-type.				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAACCGGTTGCGGCGCATCTT	0.567000									Hereditary_Prostate_Cancer				16	99					0	0	0.004007	0	0
Unknown	0	broad.mit.edu	37	17	37186281	37186281	+	RNA	SNP	G	C	C	rs4795331	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:37186281G>C	uc002hrd.1	+	1		c.123G>C								Homo sapiens cDNA FLJ43826 fis, clone TESTI4002703.																		TACAGCTCAGGTCTCAGGGCC	0.537000													5	49					0	0	0.000602	0	0
Unknown	0	broad.mit.edu	37	17	37186301	37186301	+	RNA	SNP	T	C	C	rs4794798	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:37186301T>C	uc002hrd.1	+	1		c.143T>C								Homo sapiens cDNA FLJ43826 fis, clone TESTI4002703.																		CAGGAAGTGATGTAGAACCTT	0.532000													5	52					0	0	0.000602	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48600414	48600414	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:48600414C>T	uc010wmr.1	+	11	1663	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	464					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGACTGGCGACGGCAGCACCA	0.507000													14	101					0	0	0.003163	0	0
C17orf47	284083	broad.mit.edu	37	17	56621138	56621138	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:56621138C>T	uc002iwq.1	-	1	546	c.410G>A	c.(409-411)AGC>AAC	p.S137N	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	137										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTGACTTGCTCTCACTGCC	0.483000													33	67					0	0	0.013726	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Missense_Mutation	SNP	G	A	A	rs4968502	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:60351457G>A	uc002izq.2	-	2	132	c.20C>T	c.(19-21)GCG>GTG	p.A7V	TBC1D3P2_uc010woz.1_RNA					SubName: Full=Putative uncharacterized protein TBC1D3E;												0						CCAACTACCCGCGACCTCTAC	0.537000													19	446					0	0	0.005443	0	0
PPAP2C	8612	broad.mit.edu	37	19	288107	288107	+	Silent	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:288107C>T	uc002loi.2	-	2	216	c.117G>A	c.(115-117)GGG>GGA	p.G39G	PPAP2C_uc002loh.2_Silent_p.G60G|PPAP2C_uc002loj.2_5'UTR	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	39					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTCATCCCCGCAGTAAA	0.607000													5	89					0	0	0.001984	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506255	1506255	+	Missense_Mutation	SNP	C	T	T	rs144648219		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:1506255C>T	uc002ltd.2	-	12	1619	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R161H|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.R402H	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	392	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTGGATGCGCACCTCATA	0.677000													4	34					0	0	0.009096	0	0
OR10H3	26532	broad.mit.edu	37	19	15852507	15852507	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:15852507T>A	uc010xoq.1	+	1	305	c.305T>A	c.(304-306)ATG>AAG	p.M102K		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCCATTCAGATGTTCTTCTCC	0.493000													30	352					0	0	0.008361	0	0
NWD1	284434	broad.mit.edu	37	19	16861070	16861070	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:16861070G>A	uc002neu.3	+	6	2039	c.1617G>A	c.(1615-1617)GCG>GCA	p.A539A	NWD1_uc002net.3_Silent_p.A404A|NWD1_uc002nev.3_Silent_p.A333A			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	539	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TGAGGCTGGCGTTTGAGGAAG	0.657000													4	43					0	0	0.009096	0	0
CILP2	148113	broad.mit.edu	37	19	19656065	19656065	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:19656065C>T	uc002nmv.3	+	8	2796	c.2711C>T	c.(2710-2712)GCG>GTG	p.A904V	CILP2_uc002nmw.3_Missense_Mutation_p.A910V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	904						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						AGGGTGGAGGCGGACAAGTAC	0.692000													4	31					0	0	0.000602	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832445	34832445	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:34832445T>C	uc002nvd.3	+	10	2465	c.1606T>C	c.(1606-1608)TTC>CTC	p.F536L		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	536										ovary(1)	1	Esophageal squamous(110;0.162)					GCAGAAGACATTCTCCAAACT	0.463000													13	79					0	0	0.013537	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573655	38573655	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:38573655C>T	uc002ohk.2	+	3	1959	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	484					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGAGCAGCAGCGGACGCAGAG	0.662000													4	43					0	0	0.009096	0	0
NAGK	55577	broad.mit.edu	37	2	71302756	71302756	+	Silent	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:71302756C>T	uc002shp.3	+	7	1057	c.651C>T	c.(649-651)TGC>TGT	p.C217C	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.C68C|NAGK_uc002shr.2_Silent_p.C166C	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	217					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	CTGGGTTTTGCCGGAAAATTG	0.507000													4	51					0	0	0.001168	0	0
ANKRD36	375248	broad.mit.edu	37	2	97852956	97852956	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:97852956C>T	uc010yva.1	+	31	2307	c.2063C>T	c.(2062-2064)GCC>GTC	p.A688V	ANKRD36_uc010fic.2_Missense_Mutation_p.A407V|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	688											0						AAACAACCAGCCTTGAAGGTA	0.279000													3	26					0	0	0.004672	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038726	122038726	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:122038726G>A	uc002tmx.2	-	2	277	c.184C>T	c.(184-186)CAT>TAT	p.H62Y	TFCP2L1_uc010flr.2_Missense_Mutation_p.H62Y	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	62					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GTCTCTTCATGCAGCTTCACG	0.622000													5	83					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540757	133540757	+	Silent	SNP	G	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:133540757G>T	uc002ttp.2	-	14	4001	c.3627C>A	c.(3625-3627)ACC>ACA	p.T1209T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1209							protein binding				0						AATCCGGTAGGGTCACATTTC	0.507000													30	49					3.65163e-15	3.86288e-15	0.006320	1	0
LRP2	4036	broad.mit.edu	37	2	170027118	170027118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:170027118G>A	uc002ues.2	-	59	11536	c.11323C>T	c.(11323-11325)CGA>TGA	p.R3775*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3775	LDL-receptor class A 32.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGATCCATCGCGAGGGAATG	0.507000													7	120					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179579723	179579723	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:179579723G>A	uc010zfg.1	-	87	22682	c.22458C>T	c.(22456-22458)ATC>ATT	p.I7486I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I4147I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8413							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)			CTTTGAGAGCGATGGAACCAA	0.473000													23	174					0	0	0.003954	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	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 								23	36					0	0	0.014323	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677341	3677341	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:3677341G>A	uc002wja.2	-	10	2575	c.2575C>T	c.(2575-2577)CTG>TTG	p.L859L	SIGLEC1_uc002wiz.3_Silent_p.L859L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	859	Ig-like C2-type 8.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TCTAACTTCAGGGAGTTGGCC	0.587000													14	70					0	0	0.002450	0	0
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:40735471G>A	uc002xkg.2	-	24	3529	c.3345C>T	c.(3343-3345)TGC>TGT	p.C1115C	PTPRT_uc010ggj.2_Silent_p.C1134C|PTPRT_uc010ggi.2_Silent_p.C318C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582000													28	61					0	0	0.004656	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728700	50728700	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr22:50728700G>A	uc003bkv.3	-	3	420	c.314C>T	c.(313-315)CCC>CTC	p.P105L		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	105	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCTTCCTGGGAGGGTCGAG	0.637000													9	40					0	0	0.006214	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058550	67058550	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:67058550C>T	uc003dmy.2	+	4	1600	c.1547C>T	c.(1546-1548)CCA>CTA	p.P516L	KBTBD8_uc011bfv.1_Missense_Mutation_p.P74L	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	516	Kelch 4.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAGACTTTCCATGTGATCAG	0.373000													7	115					0	0	0.001984	0	0
GATA2	2624	broad.mit.edu	37	3	128204752	128204752	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:128204752C>T	uc003ekm.3	-	4	1124	c.689G>A	c.(688-690)CGC>CAC	p.R230H	GATA2_uc003ekn.3_Missense_Mutation_p.R230H|GATA2_uc003eko.2_Missense_Mutation_p.R230H	NM_001145661	NP_001139133	P23769	GATA2_HUMAN	GATA binding protein 2 isoform 1	230					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15				GBM - Glioblastoma multiforme(114;0.173)		TAGGCCTGGGCGCAGGGGACT	0.642000			Mis		AML(CML blast transformation)								7	24					0	0	0.001984	0	0
PHC3	80012	broad.mit.edu	37	3	169820405	169820405	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:169820405C>T	uc010hws.1	-	14	2723	c.2659G>A	c.(2659-2661)GAG>AAG	p.E887K	PHC3_uc003fgl.2_Missense_Mutation_p.E899K|PHC3_uc011bpq.1_3'UTR	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	887					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTTTCCCGCTCGCTCTGCCTG	0.478000													7	63					0	0	0.001984	0	0
TP63	8626	broad.mit.edu	37	3	189586503	189586503	+	Missense_Mutation	SNP	G	A	A	rs143591434		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:189586503G>A	uc003fry.2	+	8	1216	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H	TP63_uc003frx.2_Missense_Mutation_p.R376H|TP63_uc003frz.2_Missense_Mutation_p.R376H|TP63_uc010hzc.1_Missense_Mutation_p.R376H|TP63_uc003fsa.2_Missense_Mutation_p.R282H|TP63_uc003fsb.2_Missense_Mutation_p.R282H|TP63_uc003fsc.2_Missense_Mutation_p.R282H|TP63_uc003fsd.2_Missense_Mutation_p.R282H|TP63_uc010hzd.1_Missense_Mutation_p.R197H|TP63_uc003fse.1_Intron	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	376	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGTACGAAGCGCCGTAAGTAG	0.493000									Hay-Wells_syndrome	HNSCC(45;0.13)			21	63					0	0	0.012319	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035065	48035065	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:48035065G>T	uc003gxw.2	+	4	492	c.426G>T	c.(424-426)TTG>TTT	p.L142F		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	142	Helical; (Potential).					integral to membrane					0						CTGCCACCTTGGTCACCCCTC	0.428000													29	34					3.80469e-20	4.05834e-20	0.009535	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99313217	99313217	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:99313217A>G	uc003htx.3	+	6	813	c.623A>G	c.(622-624)AAT>AGT	p.N208S	RAP1GDS1_uc003htu.2_Missense_Mutation_p.N208S|RAP1GDS1_uc003htw.3_Missense_Mutation_p.N209S|RAP1GDS1_uc003htv.3_Missense_Mutation_p.N209S|RAP1GDS1_uc003htz.3_Missense_Mutation_p.N159S|RAP1GDS1_uc003hty.3_Missense_Mutation_p.N160S|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	208	ARM 2.						binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GCATTTGGTAATTTAGCAGAA	0.333000			T	NUP98	T-ALL								19	35					0	0	0.010504	0	0
PALLD	23022	broad.mit.edu	37	4	169433187	169433187	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:169433187G>A	uc011cjx.1	+	2	743	c.532G>A	c.(532-534)GAG>AAG	p.E178K	PALLD_uc003iru.2_Missense_Mutation_p.E178K	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	178					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTTAATTGAGGAGCTAACATC	0.488000									Pancreatic_Cancer_Familial_Clustering_of				6	85					0	0	0.004482	0	0
IL31RA	133396	broad.mit.edu	37	5	55212764	55212764	+	Missense_Mutation	SNP	G	A	A	rs144592181	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:55212764G>A	uc003jql.2	+	15	2176	c.2111G>A	c.(2110-2112)CGT>CAT	p.R704H	IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc003jqo.2_Missense_Mutation_p.R562H	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	672	Cytoplasmic (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAATACCTACGTTCGAGGATG	0.527000													5	86					0	0	0.001168	0	0
SRP19	6728	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	C	C	rs712666	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:112227939T>C	uc011cvv.1	+	4	933	c.678T>C	c.(676-678)TCT>TCC	p.S226S	SRP19_uc011cvu.1_Silent_p.S211S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TCCCAACATCTAGTCCTACCC	0.453000													7	127					0	0	0.004482	0	0
CDHR2	54825	broad.mit.edu	37	5	176008572	176008572	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:176008572A>T	uc003mem.1	+	17	2113	c.2047A>T	c.(2047-2049)ATC>TTC	p.I683F	CDHR2_uc003men.1_Missense_Mutation_p.I683F	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	683	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAATGTCACCATCACTGTGGA	0.607000													6	43					0	0	0.001984	0	0
DEK	7913	broad.mit.edu	37	6	18249993	18249993	+	Silent	SNP	A	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:18249993A>C	uc003ncr.1	-	7	844	c.651T>G	c.(649-651)GCT>GCG	p.A217A	DEK_uc011djf.1_Silent_p.A183A|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	217	Nuclear localization signal (Potential).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGTTCGCTTAGCCTTCCTTG	0.353000			T	NUP214	AML								8	70					0	0	0.006214	0	0
RGL2	5863	broad.mit.edu	37	6	33264226	33264226	+	Silent	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:33264226T>C	uc003odv.2	-	5	568	c.435A>G	c.(433-435)GAA>GAG	p.E145E	RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Silent_p.E63E|RGL2_uc011drb.1_Silent_p.E63E	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	145	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						TAGGATGAGATTCAAGGGCTT	0.517000													8	47					0	0	0.006214	0	0
FUCA2	2519	broad.mit.edu	37	6	143816920	143816920	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:143816920A>G	uc003qjm.2	-	7	1420	c.1328T>C	c.(1327-1329)GTA>GCA	p.V443A	FUCA2_uc003qjn.2_3'UTR	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	443					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TGGCAGTTCTACCATAATGCC	0.448000													5	63					0	0	0.001984	0	0
IGF2R	3482	broad.mit.edu	37	6	160448286	160448286	+	Missense_Mutation	SNP	G	A	A	rs139474833	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:160448286G>A	uc003qta.2	+	6	864	c.716G>A	c.(715-717)GGA>GAA	p.G239E		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	239	2.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTGGTAAGAGGACACCAGGCG	0.557000													3	29					0	0	0.004672	0	0
TNRC18	84629	broad.mit.edu	37	7	5410227	5410227	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:5410227G>C	uc003soi.3	-	11	4347	c.3998C>G	c.(3997-3999)CCC>CGC	p.P1333R		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1333							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGACTGGGCAGGAACTG	0.701000													4	16					0	0	0.009096	0	0
ZNF713	349075	broad.mit.edu	37	7	56007419	56007419	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:56007419T>C	uc003trc.1	+	4	1051	c.1013T>C	c.(1012-1014)TTT>TCT	p.F338S	ZNF713_uc003tra.1_Missense_Mutation_p.F351S|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	338	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTAAAGCTTTTAGCCGCATC	0.433000													12	162					0	0	0.001855	0	0
PMS2L4	5382	broad.mit.edu	37	7	66764392	66764392	+	RNA	SNP	T	C	C	rs75182069	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:66764392T>C	uc003tvo.2	-	2		c.64A>G			PMS2L4_uc003tvq.2_RNA|PMS2L4_uc003tvr.3_RNA|PMS2L4_uc003tvs.3_RNA					Homo sapiens cDNA clone IMAGE:4081618.												0						ATAGGTTTGATGGCCTTAGCA	0.418000													16	359					0	0	0.007413	0	0
MAGI2	9863	broad.mit.edu	37	7	77824191	77824191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:77824191G>A	uc003ugx.2	-	12	2523	c.2269C>T	c.(2269-2271)CAA>TAA	p.Q757*	MAGI2_uc003ugy.2_Missense_Mutation_p.R757C|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Nonsense_Mutation_p.Q366*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	757						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTCACTTACGCCTACTTTCA	0.453000													6	98					0	0	0.001984	0	0
RELN	5649	broad.mit.edu	37	7	103216083	103216083	+	Silent	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:103216083T>C	uc003vca.2	-	29	4375	c.4215A>G	c.(4213-4215)GGA>GGG	p.G1405G	RELN_uc010liz.2_Silent_p.G1405G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1405					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATATGTACACTCCATCTAAAC	0.478000													10	86					0	0	0.010729	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253232	24253232	+	Splice_Site	SNP	G	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:24253232G>C	uc003xdz.2	+	5	584	c.364_splice	c.e5-1	p.E122_splice	ADAMDEC1_uc010lub.2_Splice_Site_p.E43_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.E43_splice	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1						integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)	2		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCCACTCCAGGAACACTGTT	0.284000													5	60					0	0	0.000602	0	0
TCEB1	6921	broad.mit.edu	37	8	74868197	74868197	+	Silent	SNP	T	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:74868197T>G	uc003xzx.1	-	3	182	c.97A>C	c.(97-99)AGA>CGA	p.R33R	TCEB1_uc003xzy.1_Silent_p.R33R|TCEB1_uc003xzz.1_Silent_p.R17R|TCEB1_uc003yaa.1_Silent_p.R33R	NM_005648	NP_005639	Q15369	ELOC_HUMAN	elongin C	33					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATGTTCTCTTTTTACAATA	0.378000													6	119					0	0	0.001168	0	0
FBXO43	286151	broad.mit.edu	37	8	101146038	101146038	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:101146038G>A	uc003yjd.2	-	5	2832	c.2119C>T	c.(2119-2121)CGC>TGC	p.R707C	FBXO43_uc003yje.2_Missense_Mutation_p.R673C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	707					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTCAGAGGCGTTTTAAATTC	0.378000													7	129					0	0	0.001984	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310865	143310865	+	Missense_Mutation	SNP	C	T	T	rs139787483		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:143310865C>T	uc003ywk.2	-	13	1640	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	TSNARE1_uc011lju.1_Missense_Mutation_p.A507T|TSNARE1_uc003ywj.2_Missense_Mutation_p.A509T	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	508	Helical; (Potential).				vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGAGGTGGCGATGATGATG	0.413000													21	54					0	0	0.012319	0	0
LOC442421	442421	broad.mit.edu	37	9	66500871	66500871	+	RNA	SNP	T	C	C	rs11262348		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr9:66500871T>C	uc004aed.1	+	3		c.964T>C								Homo sapiens similar to prostaglandin E receptor 4, subtype EP4; PGE receptor, EP4 subtype; prostaglandin E2 receptor, mRNA (cDNA clone IMAGE:5288780).												0						TACACGGAACTGCTGTTGGTC	0.597000													6	36					0	0	0.004482	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900030	112900030	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr9:112900030G>A	uc004bei.2	+	9	3094	c.2902G>A	c.(2902-2904)GCA>ACA	p.A968T	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A546T|AKAP2_uc011lwi.1_Missense_Mutation_p.A594T|AKAP2_uc004bem.2_Missense_Mutation_p.A594T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A554T|AKAP2_uc011lwj.1_Missense_Mutation_p.A505T|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A505T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	505							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TGACAGCGGGGCATCCAATGA	0.522000													6	109					0	0	0.001168	0	0
TRO	7216	broad.mit.edu	37	X	54952877	54952877	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:54952877G>A	uc004dtq.2	+	8	1719	c.1612G>A	c.(1612-1614)GTG>ATG	p.V538M	TRO_uc004dts.2_Missense_Mutation_p.V538M|TRO_uc004dtr.2_Missense_Mutation_p.V538M|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.V141M|TRO_uc011mok.1_Missense_Mutation_p.V69M|TRO_uc004dtw.2_Missense_Mutation_p.V141M|TRO_uc004dtx.2_Translation_Start_Site	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	538	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						TCTCCTCATGGTGATTCTGAG	0.478000													7	24					0	0	0.001984	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698629	111698629	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:111698629C>T	uc004epo.1	+	3	1114	c.673C>T	c.(673-675)CTC>TTC	p.L225F		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	225							nucleic acid binding|zinc ion binding			ovary(1)	1						CAGGCCAGAGCTCCTACAGTC	0.498000													7	84					0	0	0.001984	0	0
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	-	-	rs56352724		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:154842200_154842202delGCT	uc001ffp.2	-	1	553_555	c.239_241delAGC	c.(238-243)CAGCCA>CCA	p.Q80del	KCNN3_uc009wox.1_In_Frame_Del_p.Q80del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	80	Poly-Gln.					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.340													5	11	---	---	---	---					
SMPD1	6609	broad.mit.edu	37	11	6412859	6412860	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:6412859_6412860insA	uc001mcw.2	+	2	738_739	c.564_565insA	c.(562-567)CCCAAAfs	p.P188fs	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Frame_Shift_Ins_p.P188fs|SMPD1_uc009yew.2_Frame_Shift_Ins_p.P187fs	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	186_187					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	AGCCGCCCCCCAAACCCCCTAG	0.624													2	4	---	---	---	---					
ITPKC	80271	broad.mit.edu	37	19	41235209	41235209	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:41235209delT	uc002oot.2	+	3	1391	c.1358delT	c.(1357-1359)GTGfs	p.V453fs		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	453						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGACCTTTCGTGCCTGCCTAC	0.562													9	24	---	---	---	---					
TRY6	154754	broad.mit.edu	37	7	142468304	142468305	+	Splice_Site	INS	-	TA	TA			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:142468304_142468305insTA	uc011kso.1	+	1		c.46_splice	c.e1+1		uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|uc003wan.1_Intron|uc011ksp.1_5'Flank					Homo sapiens protease, serine, 2 (trypsin 2), mRNA (cDNA clone IMAGE:3928526), partial cds.												0						GGAGCTGCTGGCGAGTTTCATG	0.540													7	104	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76854995	76854995	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:76854995delG	uc004ecp.3	-	25	6073	c.5841delC	c.(5839-5841)GGCfs	p.G1947fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.G1909fs|ATRX_uc004eco.3_Frame_Shift_Del_p.G1732fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1947	Poly-Ser.				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)	CATTGTCACTGCCACTTCCAC	0.333			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						127	77	---	---	---	---					
