Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADAMTS19	171019	broad.mit.edu	37	5	129039955	129039955	+	Silent	SNP	C	C	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:129039955C>A	ENST00000274487.4	+	21	3310	c.3165C>A	c.(3163-3165)ggC>ggA	p.G1055G	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAAAGGCATACGTCATC	0.428000													59	100					3.28615e-30	2.33131e-29	0.003610	1	0
MED22	6837	broad.mit.edu	37	9	136211169	136211169	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr9:136211169A>G	ENST00000491289.1	-	4	805	c.224T>C	c.(223-225)cTg>cCg	p.L75P	MED22_ENST00000476080.1_Missense_Mutation_p.L75P|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000371999.1_Missense_Mutation_p.L69P|MED22_ENST00000344469.5_Missense_Mutation_p.L75P|MED22_ENST00000343730.5_Missense_Mutation_p.L75P			Q15528	MED22_HUMAN	mediator complex subunit 22	75					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CAGCTTCATCAGGGACTCGCC	0.627000													3	48					0	0	0.004672	0	0
PRDM5	11107	broad.mit.edu	37	4	121631494	121631494	+	Silent	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:121631494C>T	ENST00000264808.3	-	15	1938	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Silent_p.T535T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	566					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGCGTCCTCTTGT	0.488000													8	28					0	0	0.006214	0	0
JPH4	84502	broad.mit.edu	37	14	24040638	24040638	+	Silent	SNP	G	G	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:24040638G>A	ENST00000397118.3	-	6	2204	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	JPH4_ENST00000356300.4_Silent_p.S434S|JPH4_ENST00000544177.1_Silent_p.S99S	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	434					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCCGTGTCGGAACCTTCTG	0.617000													6	43					0	0	0.001168	0	0
POTEE	445582	broad.mit.edu	37	2	132021756	132021756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:132021756C>T	ENST00000356920.5	+	15	2822	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.						ATP binding	p.R910G(1)									GGAAATCGTGCGTGACATCAA	0.602000													14	161					0	0	0.002780	0	0
CNOT10	25904	broad.mit.edu	37	3	32754815	32754815	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:32754815A>G	ENST00000328834.5	+	5	843	c.527A>G	c.(526-528)gAa>gGa	p.E176G	CNOT10_ENST00000331889.6_Missense_Mutation_p.E176G|CNOT10_ENST00000454516.2_Missense_Mutation_p.E236G|CNOT10_ENST00000538368.1_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	176					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GCTGTCCTAGAAAAAATGATT	0.348000													23	51					0	0	0.005443	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482407	156482407	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:156482407C>G	ENST00000339252.3	-	2	716	c.184G>C	c.(184-186)Gtc>Ctc	p.V62L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V62L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	62	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGTCCAGACAATGCCATTT	0.478000													10	26					0	0	0.008291	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739296	30739296	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr10:30739296T>C	ENST00000263056.1	+	5	1310	c.614T>C	c.(613-615)cTc>cCc	p.L205P	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L205P|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L205P	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	205	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ACTGTCCATCTCTTTATGGAA	0.488000													4	78					0	0	0.000248	0	0
KIF13A	63971	broad.mit.edu	37	6	17764345	17764345	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:17764345T>C	ENST00000259711.6	-	39	5519	c.5414A>G	c.(5413-5415)cAa>cGa	p.Q1805R	KIF13A_ENST00000378843.2_Missense_Mutation_p.Q1757R|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378816.5_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1805					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACATACTCATTGACAGCACAG	0.493000													8	22					0	0	0.004482	0	0
TYW3	127253	broad.mit.edu	37	1	75204387	75204387	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:75204387A>G	ENST00000370867.3	+	3	358	c.269A>G	c.(268-270)aAg>aGg	p.K90R	TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	90					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTAGCTCTGAAGAAAGCAAAT	0.383000													15	18					0	0	0.004990	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(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)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	31					0	0	0.004482	0	0
ADH1C	126	broad.mit.edu	37	4	100260814	100260814	+	RNA	SNP	A	A	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:100260814A>T	ENST00000515683.1	-	0	1374					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATCCAGTGAAAACTTCTTAG	0.328000													7	106					0	0	0.001984	0	0
FBXO47	494188	broad.mit.edu	37	17	37107930	37107930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:37107930C>T	ENST00000378079.2	-	6	719	c.520G>A	c.(520-522)Ggt>Agt	p.G174S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	174										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TCATCCCAACCTGCTGTTAAG	0.423000													14	42					0	0	0.002450	0	0
XDH	7498	broad.mit.edu	37	2	31588394	31588394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:31588394G>A	ENST00000379416.3	-	23	2521	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R825*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCATGCATCGCACAGGGCGG	0.572000													39	98					0	0	0.002222	0	0
ZEB2	9839	broad.mit.edu	37	2	145157730	145157730	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:145157730C>G	ENST00000558170.2	-	8	2208	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R	ZEB2_ENST00000409487.3_Missense_Mutation_p.G342R|ZEB2_ENST00000539609.3_Missense_Mutation_p.G318R|ZEB2_ENST00000303660.4_Missense_Mutation_p.G342R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	342						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTCGGCCATTTACAGAG	0.413000													7	35					0	0	0.001984	0	0
EIF4B	1975	broad.mit.edu	37	12	53431273	53431273	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:53431273A>G	ENST00000262056.9	+	11	1713	c.1387A>G	c.(1387-1389)Aaa>Gaa	p.K463E	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.K424E|EIF4B_ENST00000420463.3_Missense_Mutation_p.K468E	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	463					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCAACTTCTAAACCTCCCAA	0.478000													14	19					0	0	0.008871	0	0
TMCO4	255104	broad.mit.edu	37	1	20073705	20073705	+	Silent	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:20073705C>T	ENST00000294543.6	-	8	805	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TMCO4_ENST00000375127.1_Silent_p.K188K|TMCO4_ENST00000375122.2_Silent_p.K188K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	188						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAGATAACGCTTCCATTTCC	0.547000													11	305					0	0	0.008291	0	0
OR5K2	402135	broad.mit.edu	37	3	98217294	98217294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:98217294T>C	ENST00000427338.1	+	1	847	c.770T>C	c.(769-771)tTc>tCc	p.F257S	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTATTTTTTTCCTATACATT	0.333000													14	40					0	0	0.002450	0	0
CPVL	54504	broad.mit.edu	37	7	29134736	29134736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:29134736C>T	ENST00000409850.1	-	9	1072	c.426G>A	c.(424-426)tgG>tgA	p.W142*	CPVL_ENST00000396276.3_Nonsense_Mutation_p.W142*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.W142*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	142					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCGTTGTGGTCCAGGGGAAGT	0.507000													11	42					0	0	0.001368	0	0
GCFC2	6936	broad.mit.edu	37	2	75929421	75929421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:75929421C>T	ENST00000321027.3	-	3	656	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	GCFC2_ENST00000470503.1_Missense_Mutation_p.E175K|GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E175K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	175					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										GGGTCATCTTCGCTCTCTCTC	0.453000													13	119					0	0	0.001368	0	0
SELPLG	6404	broad.mit.edu	37	12	109017462	109017462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:109017462C>T	ENST00000388962.3	-	3	751	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SELPLG_ENST00000550948.1_Missense_Mutation_p.A208T|SELPLG_ENST00000228463.6_Missense_Mutation_p.A224T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	208	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTTCCATGGCTGCTGGTGCA	0.622000													10	34					0	0	0.008291	0	0
CNGA2	1260	broad.mit.edu	37	X	150909279	150909279	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:150909279C>G	ENST00000329903.4	+	4	421	c.388C>G	c.(388-390)Cta>Gta	p.L130V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	130					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527000													40	124					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	17					0	0	0.001984	0	0
SMTN	6525	broad.mit.edu	37	22	31484563	31484563	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:31484563A>G	ENST00000333137.7	+	4	483	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	SMTN_ENST00000347557.2_Missense_Mutation_p.M89V|SMTN_ENST00000358743.1_Missense_Mutation_p.M89V|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	89					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTGGAGTCCATGAACGATGT	0.637000													7	46					0	0	0.003080	0	0
RAD50	10111	broad.mit.edu	37	5	131930714	131930714	+	Silent	SNP	T	T	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:131930714T>A	ENST00000378823.3	+	12	2348	c.1530T>A	c.(1528-1530)atT>atA	p.I510I	RAD50_ENST00000265335.6_Silent_p.I649I	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	649					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGGAAATTGAAAAATCAT	0.368000								Homologous recombination					10	62					0	0	0.000978	0	0
ACIN1	22985	broad.mit.edu	37	14	23564434	23564434	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:23564434C>G	ENST00000262710.1	-	1	389	c.62G>C	c.(61-63)cGa>cCa	p.R21P	ACIN1_ENST00000457657.1_Missense_Mutation_p.R21P|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.R21P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	21					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTACCCCTCGATTACCACT	0.592000													8	98					0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578177C>T	ENST00000420246.2	-	6	804	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000269305.4_Splice_Site_p.E224E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACCAGACCTCAGGCGGCT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	11					0	0	0.001368	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								18	48					0	0	0.001882	0	0
AIM1L	55057	broad.mit.edu	37	1	26650673	26650673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:26650673C>T	ENST00000527815.1	-	17	2134	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	AIM1L_ENST00000308182.5_Nonsense_Mutation_p.W524*	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	524							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTCGTAGTACCAGATGCAGC	0.622000													18	45					0	0	0.002780	0	0
CDRT1	374286	broad.mit.edu	37	17	15510998	15510998	+	Splice_Site	SNP	C	C	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:15510998C>A	ENST00000455584.2	-	12	2096		c.e12-1		CDRT1_ENST00000395906.3_Splice_Site																							TGTACTCATTCTAACAAGGGA	0.488000													16	16					1.99824e-07	1.39136e-06	0.004990	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101572700	101572700	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:101572700G>T	ENST00000326172.5	+	5	1445	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G322C|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G344C	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	444	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGATGCAGATGGTGACACGTG	0.388000													15	61					7.93312e-07	5.42337e-06	0.002450	1	0
CAD	790	broad.mit.edu	37	2	27456961	27456961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:27456961C>T	ENST00000264705.4	+	22	3647	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L	CAD_ENST00000403525.1_Missense_Mutation_p.S1099L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1162	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTGTGCATTCAGGTGATGCG	0.587000													25	27					0	0	0.003330	0	0
SLC5A9	200010	broad.mit.edu	37	1	48703490	48703490	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:48703490G>C	ENST00000236495.5	+	12	1557	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	SLC5A9_ENST00000438567.2_Missense_Mutation_p.A478P|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A499P	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	478						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTTCCTGCTGGCCATCTTCTG	0.572000													6	37					0	0	0.001168	0	0
PDZD2	23037	broad.mit.edu	37	5	32089975	32089975	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:32089975A>G	ENST00000438447.1	+	20	6809	c.6421A>G	c.(6421-6423)Aca>Gca	p.T2141A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2141A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2141	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAATCATCCACAAGTCATCC	0.562000													5	62					0	0	0.000602	0	0
EPHA5	2044	broad.mit.edu	37	4	66361196	66361196	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:66361196T>C	ENST00000273854.3	-	4	1576	c.976A>G	c.(976-978)Agt>Ggt	p.S326G	EPHA5_ENST00000511294.1_Missense_Mutation_p.S326G|EPHA5_ENST00000354839.4_Missense_Mutation_p.S326G|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463000										TSP Lung(17;0.13)			11	113					0	0	0.000978	0	0
BLZF1	8548	broad.mit.edu	37	1	169346051	169346051	+	Missense_Mutation	SNP	C	C	G	rs143882259	byFrequency	TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:169346051C>G	ENST00000367808.3	+	3	725	c.302C>G	c.(301-303)tCt>tGt	p.S101C	BLZF1_ENST00000329281.2_Missense_Mutation_p.S101C|BLZF1_ENST00000367807.3_Missense_Mutation_p.S101C			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	101					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AAGGTTAAGTCTCTGGGACAT	0.373000													4	105					0	0	0.000602	0	0
ALG1L2	644974	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522000													3	36					0	0	0.000248	0	0
DCDC1	341019	broad.mit.edu	37	11	31312399	31312399	+	Splice_Site	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:31312399T>C	ENST00000597505.1	-	5	754	c.755A>G	c.(754-756)gAc>gGc	p.D252G	DCDC1_ENST00000452803.1_Splice_Site_p.D252G			P59894	DCDC1_HUMAN	doublecortin domain containing 1	252	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAACAGATGGTCTAGAAGATA	0.338000													14	20					0	0	0.002450	0	0
NEDD4L	23327	broad.mit.edu	37	18	55912729	55912729	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr18:55912729A>G	ENST00000382850.4	+	3	306	c.193A>G	c.(193-195)Aca>Gca	p.T65A	NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000400345.3_Missense_Mutation_p.T65A|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.T57A|NEDD4L_ENST00000357895.5_Missense_Mutation_p.T57A|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.T65A|NEDD4L_ENST00000356462.6_Missense_Mutation_p.T65A|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000588516.1_3'UTR	NM_015277.5	NP_056092.2	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	65	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCAGACAAAAACAATTAAAAA	0.333000													2	6					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216496989	216496989	+	Silent	SNP	A	A	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:216496989A>C	ENST00000366943.2	-	8	1763	c.1377T>G	c.(1375-1377)ccT>ccG	p.P459P	USH2A_ENST00000307340.3_Silent_p.P459P|USH2A_ENST00000366942.3_Silent_p.P459P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	459	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTTGGTCCAGGTGTCAGGA	0.373000										HNSCC(13;0.011)			35	93					0	0	0.002852	0	0
CROCC	9696	broad.mit.edu	37	1	17250936	17250936	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:17250936G>A	ENST00000375541.5	+	3	382	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	105					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCGAGCGCGATGAGCTCGC	0.652000													9	23					0	0	0.006214	0	0
SCIN	85477	broad.mit.edu	37	7	12668832	12668832	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:12668832A>T	ENST00000297029.5	+	9	1405	c.1304A>T	c.(1303-1305)cAg>cTg	p.Q435L	SCIN_ENST00000445618.2_Missense_Mutation_p.Q188L|SCIN_ENST00000519209.1_Missense_Mutation_p.Q188L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	435	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCAGAGGACAGATTATCTAC	0.413000													22	66					0	0	0.003330	0	0
REV3L	5980	broad.mit.edu	37	6	111695954	111695954	+	Missense_Mutation	SNP	C	C	G	rs61756663		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:111695954C>G	ENST00000435970.1	-	15	4186	c.3370G>C	c.(3370-3372)Gat>Cat	p.D1124H	REV3L_ENST00000368805.1_Missense_Mutation_p.D1202H|REV3L_ENST00000358835.3_Missense_Mutation_p.D1202H|REV3L_ENST00000368802.3_Missense_Mutation_p.D1202H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1202					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCCATCATCTACTAGTTTA	0.333000								DNA polymerases (catalytic subunits)					3	53					0	0	0.004672	0	0
NRK	203447	broad.mit.edu	37	X	105167163	105167163	+	Silent	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:105167163C>T	ENST00000428173.2	+	18	2970	c.2667C>T	c.(2665-2667)aaC>aaT	p.N889N	NRK_ENST00000243300.9_Silent_p.N888N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	888							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTTGACAAACGAATGGGTAG	0.418000										HNSCC(51;0.14)			51	88					0	0	0.003610	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203383	140203383	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:140203383C>G	ENST00000529859.1	+	1	2023	c.2023C>G	c.(2023-2025)Ccg>Gcg	p.P675A	PCDHA5_ENST00000529619.1_Missense_Mutation_p.P675A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P675A|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCAGGCGCCGAAGGCCTC	0.672000													3	42					0	0	0.004672	0	0
AMER1	139285	broad.mit.edu	37	X	63410720	63410720	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:63410720C>T	ENST00000330258.3	-	2	2719	c.2447G>A	c.(2446-2448)cGg>cAg	p.R816Q	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTCCCCATCCCGTTCCACATC	0.498000													11	27					0	0	0.000978	0	0
GLOD4	51031	broad.mit.edu	37	17	685481	685481	+	Silent	SNP	T	T	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:685481T>C	ENST00000301329.6	-	1	100	c.15A>G	c.(13-15)agA>agG	p.R5R	GLOD4_ENST00000301328.5_Silent_p.R5R|GLOD4_ENST00000536578.1_5'UTR	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	5						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGTGCAGAGCTCTGCGAGCAG	0.662000													4	17					0	0	0.000602	0	0
RIPK1	8737	broad.mit.edu	37	6	3105782	3105782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:3105782delG	ENST00000259808.4	+	9	1371	c.1073delG	c.(1072-1074)tggfs	p.W358fs	RIPK1_ENST00000541791.1_Frame_Shift_Del_p.W312fs|RIPK1_ENST00000380409.2_Frame_Shift_Del_p.W358fs|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	358	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGGAGTCCTGGTTTGCTCCT	0.527													47	111	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													3	5	---	---	---	---					
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	106	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57429499	57429500	+	In_Frame_Ins	INS	-	-	GCAGCCCCT			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr20:57429499_57429500insGCAGCCCCT	ENST00000371100.4	+	1	1731_1732	c.1179_1180insGCAGCCCCT	c.(1180-1182)gca>GCAGCCCCTgca	p.394_394A>AAPA	GNAS_ENST00000371102.4_In_Frame_Ins_p.394_394A>AAPA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_In_Frame_Ins_p.394_394A>AAPA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_In_Frame_Ins_p.334_335insPLQ	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGCCAGGGCAGCCCCTGC	0.688			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	5	---	---	---	---					
PIM3	415116	broad.mit.edu	37	22	50354613	50354613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:50354613delC	ENST00000360612.4	+	1	453	c.18delC	c.(16-18)ttcfs	p.F6fs		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	6					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCAAGTTCGGCTCCCTGG	0.801													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													3	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTAATTACTTTTTTCTTAA	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						63	109	---	---	---	---					
