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
HSP90AB3P	3327	broad.mit.edu	37	4	88814665	88814665	+	Missense_Mutation	SNP	A	A	C	rs17008718	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr4:88814665A>C	uc010iko.1	+	3	1292	c.1292A>C	c.(1291-1293)gAa>gCa	p.E431A						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GAAAGCAAGGAAAAGTTTGAG	0.448000													3	24					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76456336	76456336	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:76456336C>T	uc010dhp.2	-	58	9468	c.9343G>A	c.(9343-9345)Gtc>Atc	p.V3115I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCAGTGACGTTCTGGAAG	0.562000													6	5					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134187	128134187	+	Silent	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:128134187T>C	uc011ebt.2	-	3	1748	c.1599A>G	c.(1597-1599)gaA>gaG	p.E533E	THEMIS_uc010kfa.3_Silent_p.E436E|THEMIS_uc021zfa.1_Silent_p.E533E|THEMIS_uc010kfb.3_Silent_p.E498E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	533					T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTGATCTCTTCTACCAGAG	0.468000													45	58					0	0	1	0	0
FAM64A	54478	broad.mit.edu	37	17	6348641	6348641	+	Missense_Mutation	SNP	C	C	T	rs11538170		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:6348641C>T	uc002gcw.2	+	1	320	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FAM64A_uc002gcu.2_Missense_Mutation_p.R71C	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	71						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTCCTGGAAACGCCTGGAAAC	0.627000													20	44					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102789858	102789858	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:102789858G>A	uc001ksn.3	-	1	369	c.119C>T	c.(118-120)aCg>aTg	p.T40M	PDZD7_uc021pxc.1_Missense_Mutation_p.T40M|PDZD7_uc001kso.2_Missense_Mutation_p.T40M|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	40						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657000													35	30					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124111437	124111437	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:124111437C>A	uc004blh.3	-	4	566	c.486G>T	c.(484-486)caG>caT	p.Q162H	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Missense_Mutation_p.Q111H	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	162					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CAGAGAGGATCTGAGAAAGAT	0.478000													17	10					5.3912e-06	5.60262e-06	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64975203	64975203	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:64975203G>A	uc001jmn.3	-	6	1135	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	JMJD1C_uc001jml.3_Missense_Mutation_p.R60C|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_Missense_Mutation_p.R97C|JMJD1C_uc009xpi.3_Missense_Mutation_p.R97C|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	279					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTGGGCACGTGTATAATGG	0.378000													59	74					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134349974	134349974	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:134349974A>G	uc004can.4	+	14	2513	c.2458A>G	c.(2458-2460)Atc>Gtc	p.I820V	PRRC2B_uc010mzj.1_Missense_Mutation_p.I403V|PRRC2B_uc004cao.4_Missense_Mutation_p.I178V	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	820							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGACAGCTGTATCTCTTCTCA	0.522000													5	25					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17240949	17240949	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr20:17240949G>A	uc002wpm.3	+	1	596	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PCSK2_uc002wpl.3_Missense_Mutation_p.R62H|PCSK2_uc010zrm.2_Intron	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	81					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGAGAAGACGCAGCCTACAC	0.532000													43	48					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945118	144945118	+	Missense_Mutation	SNP	G	G	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr8:144945118G>T	uc003zaa.1	-	0	2317	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	768						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.632000													5	102					1.23904e-05	1.26287e-05	1	1	0
HK3	3101	broad.mit.edu	37	5	176310845	176310845	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:176310845A>G	uc003mfa.3	-	14	2071	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T	HK3_uc003mez.3_Missense_Mutation_p.I216T	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	660	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATTGACAATGGCAACCAC	0.582000													11	86					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977145	29977145	+	Splice_Site	SNP	G	G	C	rs115037049	byFrequency	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:29977145G>C	uc021yty.1	+	4	357	c.339_splice	c.e4+1	p.K113_splice	HLA-G_uc011dmb.2_Intron|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Splice_Site|HLA-J_uc003nov.4_Intron|HLA-J_uc003rtl.4_Splice_Site_p.K110_splice					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GCTTGTAAAGGTGAGACCCTG	0.512000													4	43					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63994085	63994085	+	Splice_Site	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr12:63994085C>T	uc001srp.1	-	13	1540	c.1359_splice	c.e13+1	p.H453_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	453					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTACTTACGTGGTCTGAA	0.308000													25	39					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327718	16327718	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:16327718G>A	uc003nbt.3	-	7	1795	c.824C>T	c.(823-825)aCg>aTg	p.T275M	ATXN1_uc010jpi.3_Missense_Mutation_p.T275M|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	275					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGGATCATCGTCTGGTGGGG	0.652000													9	17					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824013	70824013	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:70824013G>A	uc004eae.2	+	7	1387	c.886G>A	c.(886-888)Gac>Aac	p.D296N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	296	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.527000													111	136					0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647590	79647590	+	RNA	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:79647590C>T	uc010jaj.1	-	0		c.196G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		CCCGGTTGACCGAATGTAAGT	0.547000													7	97					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23390166	23390166	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr14:23390166C>T	uc001whm.1	-	16	1952	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	RBM23_uc001whh.3_5'Flank|RBM23_uc001whg.3_5'Flank|RBM23_uc001whi.3_5'Flank|RBM23_uc010tne.2_5'Flank|RBM23_uc001whj.3_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Missense_Mutation_p.V604I|PRMT5_uc010tnf.1_Missense_Mutation_p.V515I|PRMT5_uc010tnh.1_Missense_Mutation_p.V577I|PRMT5_uc010tng.1_Missense_Mutation_p.V560I|PRMT5_uc001whn.1_Missense_Mutation_p.V450I	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	621					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCAGAACAGACTGGTGCTGTC	0.542000													15	31					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131802995	131802995	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:131802995C>A	uc002tsa.1	+	12	2416	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q633K|ARHGEF4_uc010fmx.1_Missense_Mutation_p.Q573K|ARHGEF4_uc002tsc.1_Missense_Mutation_p.Q176K	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	633					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCCAGCAAGCAGCAGGTCAC	0.617000													19	39					1.01871e-10	1.07984e-10	1	1	0
YIPF1	54432	broad.mit.edu	37	1	54354658	54354658	+	Splice_Site	SNP	T	T	G	rs2294508	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:54354658T>G	uc001cvu.3	-	3	323	c.-48_splice	c.e3-1		YIPF1_uc001cvv.3_Splice_Site|YIPF1_uc001cvx.3_Splice_Site|YIPF1_uc001cvy.3_Intron	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.							integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATTTGCAGGGTTCTAAAAGAA	0.398000													3	30					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224548	44224548	+	Missense_Mutation	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:44224548G>C	uc003oxd.3	-	1	215	c.79C>G	c.(79-81)Cct>Gct	p.P27A	SLC35B2_uc011dvt.2_5'UTR|SLC35B2_uc011dvu.2_Intron|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	27					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACTCCGGAGGGGCTTCGGGA	0.582000													6	72					0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32190719	32190719	+	RNA	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:32190719C>T	uc010vfv.1	-	6		c.1105G>A								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TATGAGACGTCGGACAGCTAC	0.507000													4	11					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798878	42798878	+	Missense_Mutation	SNP	T	T	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:42798878T>G	uc002otf.1	+	18	4490	c.4450T>G	c.(4450-4452)Ttc>Gtc	p.F1484V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATGGCTTCTTCCCGTCAGG	0.597000			"""Mis, F, S"""		oligodendroglioma								34	12					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	42					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64607885	64607885	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr3:64607885T>C	uc003dmg.3	-	17	2707	c.2675A>G	c.(2674-2676)aAa>aGa	p.K892R	ADAMTS9_uc011bfo.2_Missense_Mutation_p.K864R|ADAMTS9_uc003dmh.1_Missense_Mutation_p.K721R|ADAMTS9_uc003dmk.1_Missense_Mutation_p.K892R	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	892	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGCAGGGTTTACTGCATGC	0.363000													28	21					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999522	6999522	+	Missense_Mutation	SNP	C	C	T	rs146559010		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr18:6999522C>T	uc002knm.3	-	31	4679	c.4585G>A	c.(4585-4587)Gtt>Att	p.V1529I	LAMA1_uc010wzj.2_Missense_Mutation_p.V1005I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1529	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCTGCAAACGCACTGCCCA	0.557000													3	30					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234703	21234703	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:21234703C>T	uc002red.3	-	25	5165	c.5037G>A	c.(5035-5037)ggG>ggA	p.G1679G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1679					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGATGCCCCAGAGAGGC	0.493000													30	64					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78425869	78425869	+	Splice_Site	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:78425869C>G	uc001dii.3	-	16	1665	c.1576_splice	c.e16+1	p.A526_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.A547_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	526	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCTTCTACCTGGATCAGGA	0.413000			"""F, N"""		oligodendroglioma								14	14					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779269	18779269	+	Silent	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:18779269G>A	uc002njz.1	+	2	1089	c.1062G>A	c.(1060-1062)acG>acA	p.T354T		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	354										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCACACGTGCGTGGCCG	0.677000													9	18					0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814683	88814683	+	Missense_Mutation	SNP	G	G	T	rs55724168	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr4:88814683G>T	uc010iko.1	+	3	1310	c.1310G>T	c.(1309-1311)tGc>tTc	p.C437F						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GAGAACCTCTGCAAGCTCATG	0.463000													3	25					1	1	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219900291	219900291	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:219900291C>T	uc002vjl.1	-	4	537	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CCDC108_uc010zkp.1_Silent_p.L140L|CCDC108_uc010zkq.1_Silent_p.L86L|CCDC108_uc002vjn.3_Silent_p.L86L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	151						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCCAATGCAGCTCCTCAG	0.502000													55	71					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112058788	112058788	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:112058788T>C	uc004epr.3	-	1	1208	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	AMOT_uc004eps.3_5'UTR|AMOT_uc004ept.1_Missense_Mutation_p.Q397R	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	397					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T397S(3)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ctgtggctgctgctgctgctg	0.572000													4	48					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33096834	33096834	+	Silent	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:33096834A>G	uc002ntn.1	-	23	2556	c.2400T>C	c.(2398-2400)aaT>aaC	p.N800N		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	800					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGGTTTTGCATTCGAATCTA	0.473000													15	13					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643617	53643617	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:53643617C>T	uc002qbc.2	-	4	2894	c.2467G>A	c.(2467-2469)Gtg>Atg	p.V823M	ZNF347_uc002qbb.2_Missense_Mutation_p.V822M|ZNF347_uc010eql.2_Missense_Mutation_p.V823M	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTTTCCACACGTTACATTTG	0.413000													54	29					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086683	56086683	+	Nonsense_Mutation	SNP	C	C	T	rs141093095		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:56086683C>T	uc010rjf.2	+	0	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATATGCCCTACGAAGGACATG	0.323000													3	33					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74519578	74519578	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:74519578A>G	uc004ecb.2	+	4	767	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_Missense_Mutation_p.M191V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	191					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGAGGCAATGGAACAAGG	0.383000													6	74					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211471549	211471549	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:211471549C>T	uc010fur.3	+	18	2176	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	CPS1_uc002vee.4_Silent_p.G692G|CPS1_uc010fus.3_Silent_p.G241G	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	692	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACTTGGGCATTGTGGGTG	0.478000													37	33					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26696893	26696893	+	Missense_Mutation	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:26696893C>G	uc002rhk.3	-	26	3501	c.3374G>C	c.(3373-3375)gGc>gCc	p.G1125A	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.G378A|OTOF_uc002rhi.3_Missense_Mutation_p.G435A|OTOF_uc002rhj.3_Missense_Mutation_p.G378A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1125					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGGATGCCCATGGGCAC	0.647000													20	38					0	0	1	0	0
LOC284100	284100	broad.mit.edu	37	17	36214092	36214092	+	RNA	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:36214092G>A	uc002hom.1	-	2		c.225C>T			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.											endometrium(6)|kidney(1)	7						ATTTCCTGTGGCAAATTCTGC	0.388000													3	26					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53618082	53618082	+	Splice_Site	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:53618082G>C	uc004dsp.3	-	34	4375	c.3973_splice	c.e34-1	p.L1325_splice	HUWE1_uc004dsn.3_Splice_Site_p.L150_splice	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1325	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCATGAGCTACATAAAG	0.433000													14	18					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738552	33738552	+	Silent	SNP	C	C	T	rs150878441		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:33738552C>T	uc002hji.4	-	3	1919	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	SLFN12_uc002hjj.4_Silent_p.S514S|SLFN12_uc010cts.3_Silent_p.S514S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	514							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAATTACTTGCGACCTTAAAT	0.393000													23	44					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085532	17085532	+	Splice_Site	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:17085532T>C	uc010ock.2	-	10	1161	c.1161_splice	c.e10-1	p.Q387_splice	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GTTAGGGCCCTGGCGGGGCCG	0.662000													3	39					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10812925	10812925	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:10812925C>T	uc002mpr.3	+	2	471	c.446C>T	c.(445-447)gCg>gTg	p.A149V		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	149					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ATCCAGAATGCGCTGGGTGAG	0.607000													3	38					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18052562	18052562	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:18052562A>G	uc021trm.1	+	32	7208	c.6989A>G	c.(6988-6990)gAc>gGc	p.D2330G	MYO15A_uc021trl.1_Missense_Mutation_p.D2328G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2330	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGATGAGGACATGTCCACT	0.527000													10	14					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:119058335delC	uc001pwb.3	+	3	1305	c.781delC	c.(781-783)cccfs	p.P261fs	PDZD3_uc001pvz.3_Frame_Shift_Del_p.P195fs|PDZD3_uc010rzd.2_Frame_Shift_Del_p.P182fs|PDZD3_uc001pvy.3_Frame_Shift_Del_p.P195fs|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	261	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552													3	5	---	---	---	---					
FUS	2521	broad.mit.edu	37	16	31200459	31200461	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:31200459_31200461delACA	uc002ebf.3	+	8	953_955	c.848_850delACA	c.(847-852)gacaac>gac	p.N285del	FUS_uc002ebe.2_In_Frame_Del_p.N281del|FUS_uc002ebg.3_In_Frame_Del_p.N80del|FUS_uc002ebh.3_In_Frame_Del_p.N284del|FUS_uc010caj.1_Intron	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	285	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATAATTCAGACAACAACACCAT	0.374			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								46	185	---	---	---	---					
