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
FANCE	2178	broad.mit.edu	37	6	35423550	35423550	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:35423550G>A	uc003oko.1	+	1	460	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	FANCE_uc010jvw.1_Missense_Mutation_p.R92Q	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	92					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CGATTGCCCCGGATATGCCAG	0.592000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	41					0	0	0.014410	0	0
LOC728989	728989	broad.mit.edu	37	1	146495696	146495696	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:146495696C>T	uc001epd.2	-	2	310	c.236G>A	c.(235-237)gGc>gAc	p.G79D						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		ATCAATGTGGCCAATGACATG	0.517000													10	26					0	0	0.010729	0	0
PHF21A	51317	broad.mit.edu	37	11	45959824	45959824	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:45959824T>C	uc001ncc.4	-	14	2113	c.1489A>G	c.(1489-1491)Agt>Ggt	p.S497G	PHF21A_uc001ncb.4_Missense_Mutation_p.S451G|PHF21A_uc009ykx.3_Missense_Mutation_p.S451G|PHF21A_uc001nca.1_Missense_Mutation_p.S233G	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	497	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AACTGGCCACTTTTTCTGCAA	0.403000													26	34					0	0	0.008361	0	0
OR4D6	219983	broad.mit.edu	37	11	59224535	59224535	+	Silent	SNP	G	G	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:59224535G>T	uc010rku.2	+	0	102	c.102G>T	c.(100-102)gtG>gtT	p.V34V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTGCTGTGTATGTAGCAA	0.458000													6	94					8.12818e-05	9.24163e-05	0.001984	1	0
USP11	8237	broad.mit.edu	37	X	47092455	47092455	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:47092455G>A	uc004dhp.3	+	0	142	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	48					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ggcgacggtcgcagcaaatcc	0.642000													5	2					0	0	0.000602	0	0
EZH1	2145	broad.mit.edu	37	17	40869993	40869993	+	Splice_Site	SNP	C	C	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:40869993C>A	uc010wgu.2	-	9	1077	c.1041_splice	c.e9+1	p.L347_splice	EZH1_uc002iaz.3_Splice_Site_p.L341_splice|EZH1_uc002iba.3_Splice_Site_p.L332_splice|EZH1_uc010wgt.2_Splice_Site_p.L271_splice|EZH1_uc010wgv.2_Splice_Site_p.L301_splice|EZH1_uc010wgw.2_Splice_Site_p.L202_splice|EZH1_uc010cyp.2_Splice_Site_p.L242_splice|EZH1_uc010cyq.2_Splice_Site_p.L258_splice|EZH1_uc010cys.2_Splice_Site_p.L292_splice|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Splice_Site	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	341					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGAACATACCAGCAAAAGG	0.413000													19	25					1.96292e-10	2.29468e-10	0.010504	1	0
BMP2K	55589	broad.mit.edu	37	4	79793907	79793907	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:79793907C>T	uc003hlk.3	+	12	1914	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	BMP2K_uc003hlj.3_Missense_Mutation_p.P583L|BMP2K_uc003hll.3_Missense_Mutation_p.P47L	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	583						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCATCACTTCCAGCTCAGGTT	0.448000													34	44					0	0	0.003271	0	0
MUC17	140453	broad.mit.edu	37	7	100678206	100678206	+	Missense_Mutation	SNP	C	C	T	rs140475164	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:100678206C>T	uc003uxp.1	+	2	3562	c.3509C>T	c.(3508-3510)aCg>aTg	p.T1170M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1170	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1170T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACGCTGGTGGTC	0.522000													145	655					0	0	0.014410	0	0
PTPRM	5797	broad.mit.edu	37	18	7949178	7949178	+	Splice_Site	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:7949178G>A	uc002knn.4	+	6	1167	c.664_splice	c.e6-1	p.G222_splice	PTPRM_uc010dkv.3_Splice_Site_p.G222_splice|PTPRM_uc010wzl.2_Splice_Site_p.G9_splice	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	222	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTTGATACAGGGCATTGATG	0.448000													37	50					0	0	0.009718	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:111346773T>A	uc003pun.3	+	9	928	c.909T>A	c.(907-909)atT>atA	p.I303I	RPF2_uc003puo.3_Silent_p.I240I	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	303						nucleolus	protein binding	p.I303I(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368000													5	9					0	0	0.001168	0	0
TMEM66	51669	broad.mit.edu	37	8	29923548	29923548	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:29923548T>C	uc003xhs.3	-	4	1134	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.Y145C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	317						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		ACATACCGAATAGCTGCCCGA	0.473000													5	75					0	0	0.000602	0	0
COL22A1	169044	broad.mit.edu	37	8	139791795	139791795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:139791795C>T	uc003yvd.3	-	13	2108	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	554	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAGCTCTCCTGGCTCCCC	0.622000										HNSCC(7;0.00092)			20	71					0	0	0.003954	0	0
CD1B	910	broad.mit.edu	37	1	158298711	158298711	+	Splice_Site	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:158298711C>T	uc001frx.3	-	5	1088	c.980_splice	c.e5+1	p.R327_splice	CD1B_uc001frw.3_Splice_Site_p.R272_splice	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CACAACTCACCGGCGCCTCAT	0.388000													12	47					0	0	0.001855	0	0
ZNF567	163081	broad.mit.edu	37	19	37203719	37203719	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:37203719T>G	uc010xtl.2	+	4	395	c.173T>G	c.(172-174)tTg>tGg	p.L58W	ZNF567_uc002oeo.1_Missense_Mutation_p.L58W|ZNF567_uc010xtk.1_Missense_Mutation_p.L58W|ZNF567_uc002oep.4_Missense_Mutation_p.L27W|ZNF567_uc002oeq.1_Missense_Mutation_p.L27W	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCTCAAGTTGGAACGAGGA	0.423000													17	30					0	0	0.006122	0	0
UAP1	6675	broad.mit.edu	37	1	162557442	162557442	+	Silent	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:162557442C>T	uc001gce.4	+	5	1341	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	338					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCATTTCTGAGAGATGT	0.433000													60	165					0	0	0.014410	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532420	40532420	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:40532420C>T	uc003xnr.3	-	4	526	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	127						nucleus	DNA binding|zinc ion binding	p.R127W(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTGTCCATCCGTGGGGGCTT	0.527000													56	106					0	0	0.014410	0	0
KLKB1	3818	broad.mit.edu	37	4	187178500	187178500	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:187178500G>A	uc003iyy.3	+	13	1777	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	KLKB1_uc011clc.2_Missense_Mutation_p.G367E|KLKB1_uc011cld.2_Intron	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	569	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.G569E(2)|p.E568*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATAAAGAAGGGGGAAAAGAT	0.323000													7	153					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	G	rs11540654		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7579358C>G	uc002gim.2	-	3	523	c.329G>C	c.(328-330)cGt>cCt	p.R110P	TP53_uc002gig.1_Missense_Mutation_p.R110P|TP53_uc002gih.3_Missense_Mutation_p.R110P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.R110P|TP53_uc010cnh.1_Missense_Mutation_p.R110P|TP53_uc002gij.2_Missense_Mutation_p.R110P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.R71P|TP53_uc010cnk.1_Missense_Mutation_p.R125P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(62)|p.R110P(18)|p.R110fs*13(9)|p.0?(8)|p.R110C(5)|p.R110H(4)|p.F109_R110delFR(4)|p.G59fs*23(3)|p.R110fs*39(2)|p.G108_F109delGF(2)|p.F109C(2)|p.Y103_G112>C(2)|p.F109S(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.R110S(1)|p.F109fs*16(1)|p.F109F(1)|p.P13fs*18(1)|p.F109V(1)|p.F109_R110insXX(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)		GAAGCCCAGACGGAAACCGTA	0.612000		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)			21	41					0	0	0.010504	0	0
AKAP9	10142	broad.mit.edu	37	7	91736724	91736724	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:91736724C>T	uc003ulg.3	+	47	11759	c.11534C>T	c.(11533-11535)cCa>cTa	p.P3845L	AKAP9_uc003ulf.3_Missense_Mutation_p.P3837L|AKAP9_uc003uli.3_Missense_Mutation_p.P3468L|AKAP9_uc003ulj.3_Missense_Mutation_p.P1615L|AKAP9_uc003ull.3_Missense_Mutation_p.P741L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3849					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCCCTTTACCATTTCAGAAT	0.353000			T	BRAF	papillary thyroid								89	32					0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10970032	10970032	+	Silent	SNP	G	G	A	rs147186596		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr21:10970032G>A	uc002yip.1	-	5	464	c.96C>T	c.(94-96)acC>acT	p.T32T	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.T32T|TPTE_uc002yir.1_Silent_p.T32T|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(3)|p.A31S(2)|p.E33fs*10(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCCTCCTCGGTTGCTCCTT	0.398000													28	108					0	0	0.007291	0	0
ATRX	546	broad.mit.edu	37	X	76813076	76813076	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:76813076T>C	uc004ecp.4	-	29	6777	c.6545A>G	c.(6544-6546)aAg>aGg	p.K2182R	ATRX_uc004ecq.4_Missense_Mutation_p.K2144R|ATRX_uc004eco.4_Missense_Mutation_p.K1967R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2182	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	CAGTGACTGCTTAGTTACTTG	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						61	10					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578226	7578226	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7578226T>C	uc002gim.2	-	5	817	c.623A>G	c.(622-624)gAc>gGc	p.D208G	TP53_uc002gig.1_Missense_Mutation_p.D208G|TP53_uc002gih.3_Missense_Mutation_p.D208G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D76G|TP53_uc010cnf.1_Missense_Mutation_p.D76G|TP53_uc002gii.1_Missense_Mutation_p.D76G|TP53_uc010cni.1_Missense_Mutation_p.D208G|TP53_uc010cnh.1_Missense_Mutation_p.D208G|TP53_uc002gij.2_Missense_Mutation_p.D208G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.D115G|TP53_uc002gio.2_Missense_Mutation_p.D76G|TP53_uc010vug.2_Missense_Mutation_p.D169G|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	208	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D208V(28)|p.0?(8)|p.D208G(6)|p.D208E(5)|p.?(5)|p.D207fs*6(4)|p.D208fs*38(2)|p.D208N(2)|p.D208I(2)|p.D207G(2)|p.E204_N210delEYLDDRN(2)|p.D207_R213delDDRNTFR(2)|p.D208_V216delDRNTFRHSV(2)|p.D208fs*1(2)|p.D208fs*39(2)|p.D207_V216del10(2)|p.K164_P219del(1)|p.D208Y(1)|p.D207fs*2(1)|p.D208fs*?(1)|p.D208H(1)|p.D207N(1)|p.D207A(1)|p.D207D(1)|p.D207E(1)|p.D207Y(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)		AGTGTTTCTGTCATCCAAATA	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)			17	32					0	0	0.004990	0	0
MLL2	8085	broad.mit.edu	37	19	36216441	36216441	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:36216441G>A	uc021usv.1	+	11	3704	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	MLL2_uc021usu.1_Missense_Mutation_p.R49Q	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1414					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGGCCGAGCGGCCCCTGCCC	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			86	145					0	0	0.014410	0	0
CFB	629	broad.mit.edu	37	6	31902169	31902169	+	Silent	SNP	C	C	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31902169C>A	uc003nye.4	+	5	1206	c.942C>A	c.(940-942)gcC>gcA	p.A314A	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	0	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CACTCACAGCCCACCTCCTCC	0.473000													15	27					1.49906e-05	1.72808e-05	0.002450	1	0
DUPD1	338599	broad.mit.edu	37	10	76803657	76803657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:76803657G>A	uc001jwq.1	-	1	319	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	107	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGTGGTACTGGATGTCCATG	0.642000													35	51					0	0	0.004878	0	0
CABS1	85438	broad.mit.edu	37	4	71201800	71201800	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:71201800T>C	uc003hff.3	+	0	1130	c.1044T>C	c.(1042-1044)aaT>aaC	p.N348N	CABS1_uc021xoz.1_Silent_p.N348N	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	348						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAACTGATAATACAGAGACTG	0.408000													28	50					0	0	0.004656	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	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								25	53					0	0	0.004656	0	0
MLL2	8085	broad.mit.edu	37	12	49446390	49446390	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:49446390T>C	uc001rta.4	-	8	1215	c.1215A>G	c.(1213-1215)caA>caG	p.Q405Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	405	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTTCCTTGGGTTGCATAGAGG	0.557000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			12	10					0	0	0.013537	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110493686	110493686	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:110493686G>A	uc003yne.3	+	55	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3118	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTGGCTGGGAAGATAACCC	0.378000										HNSCC(38;0.096)			15	7					0	0	0.004007	0	0
LRIF1	55791	broad.mit.edu	37	1	111494470	111494470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:111494470G>A	uc001eaa.3	-	1	1292	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.R346Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTTTGGATCGCGTCCCACTA	0.353000													49	77					0	0	0.014410	0	0
ZNF600	162966	broad.mit.edu	37	19	53269430	53269430	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:53269430T>C	uc002qab.4	-	2	1865	c.1579A>G	c.(1579-1581)Aag>Gag	p.K527E	ZNF600_uc021uyz.1_Missense_Mutation_p.K527E	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCATTACACTTGTAAGGTTTC	0.453000													11	104					0	0	0.010729	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409595	105409595	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:105409595C>T	uc010axc.1	-	6	12313	c.12193G>A	c.(12193-12195)Gac>Aac	p.D4065N	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D3965N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4065						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGAGGTCCACTTTGGGC	0.602000													93	182					0	0	0.014410	0	0
MPO	4353	broad.mit.edu	37	17	56357985	56357985	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:56357985G>A	uc002ivu.1	-	0	312	c.135C>T	c.(133-135)ccC>ccT	p.P45P		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	45					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CACCTTCAGAGGGCTGGGGCG	0.597000													22	51					0	0	0.003954	0	0
DSG1	1828	broad.mit.edu	37	18	28911710	28911710	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:28911710C>A	uc002kwp.3	+	5	776	c.564C>A	c.(562-564)aaC>aaA	p.N188K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	188	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGAACCGAACAATTTGAACT	0.333000													20	36					1.96292e-10	2.29468e-10	0.010504	1	0
HPS6	79803	broad.mit.edu	37	10	103826085	103826085	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:103826085T>G	uc001kuj.3	+	0	962	c.854T>G	c.(853-855)tTc>tGc	p.F285C		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	285						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGCTTGACTTCGGGGGCACT	0.682000									Hermansky-Pudlak syndrome				18	36					0	0	0.007413	0	0
EBF1	1879	broad.mit.edu	37	5	158140057	158140057	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:158140057G>A	uc010jip.3	-	12	1592	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_uc011ddw.2_Silent_p.H298H|EBF1_uc011ddx.2_Silent_p.H431H|EBF1_uc003lxl.4_Silent_p.H399H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	430					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.H430Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557000			T	HMGA2	lipoma								38	37					0	0	0.006999	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382718	23382718	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr16:23382718C>T	uc002dln.3	+	5	1155	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	327					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAGGTCATACCCCTTCATCAG	0.602000													14	32					0	0	0.001855	0	0
CECR1	51816	broad.mit.edu	37	22	17684592	17684592	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr22:17684592G>A	uc002zmk.1	-	2	826	c.614C>T	c.(613-615)tCg>tTg	p.S205L	CECR1_uc010gqu.1_Missense_Mutation_p.S205L|CECR1_uc011agi.1_Missense_Mutation_p.S163L|CECR1_uc011agj.1_Missense_Mutation_p.S163L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	205	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTCAAATTTCGACCAGACAAC	0.493000													17	27					0	0	0.004990	0	0
NOL4	8715	broad.mit.edu	37	18	31709958	31709958	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:31709958T>C	uc010dmi.3	-	1	589	c.291A>G	c.(289-291)ctA>ctG	p.L97L	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.L23L|NOL4_uc010dmh.3_Silent_p.L23L|NOL4_uc010xbu.2_Silent_p.L97L|NOL4_uc002kxt.4_Silent_p.L97L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	97						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCGTAAAGATAGCTTCTCAT	0.373000													18	27					0	0	0.006122	0	0
ART3	419	broad.mit.edu	37	4	77018801	77018801	+	Silent	SNP	A	A	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:77018801A>G	uc003hjo.3	+	3	920	c.786A>G	c.(784-786)ctA>ctG	p.L262L	ART3_uc003hjk.3_Silent_p.L262L|ART3_uc010ija.2_Silent_p.L262L|ART3_uc003hjn.3_Silent_p.L262L|ART3_uc003hjp.3_Non-coding_Transcript|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Silent_p.L232L|ART3_uc010ijc.3_Intron|ART3_uc010ijd.3_Silent_p.L232L	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	262					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAGGACTAAAAACCGAAA	0.323000													18	51					0	0	0.014323	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000													3	10					0	0	0.009096	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421533	1421533	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:1421533G>A	uc001afv.3	+	9	1108	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	ATAD3B_uc021oeq.1_5'UTR|ATAD3B_uc001afx.3_Missense_Mutation_p.R290K	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	336							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATAGCAACCAGGAACACCAAG	0.642000													35	70					0	0	0.004878	0	0
CD300LB	124599	broad.mit.edu	37	17	72518906	72518906	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:72518906C>T	uc002jkx.2	-	3	701	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	193						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGAGGTTCGGAGAAGTTC	0.547000													32	47					0	0	0.003271	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250978	142250978	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:142250978G>A	uc011ksf.2	-	1	84	c.69C>T	c.(67-69)atC>atT	p.I23I	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GTGCCTGGGTGATCCCAGCAG	0.522000													20	112					0	0	0.012319	0	0
LRP1	4035	broad.mit.edu	37	12	57547993	57547993	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:57547993G>A	uc001snd.3	+	6	1310	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	LRP1_uc001snc.1_Missense_Mutation_p.V282M	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	282					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTCCAGACGTGGAACAGAT	0.527000													7	156					0	0	0.004482	0	0
PTH2R	5746	broad.mit.edu	37	2	209308141	209308141	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209308141G>A	uc010zjb.2	+	5	897	c.611G>A	c.(610-612)aGc>aAc	p.S204N	PTH2R_uc002vdb.3_Missense_Mutation_p.S193N	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	193						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGAGCTACAAGCATCTTTGTC	0.403000													26	40					0	0	0.003954	0	0
COG5	10466	broad.mit.edu	37	7	106938740	106938740	+	Missense_Mutation	SNP	C	C	T	rs35258567	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106938740C>T	uc003vec.2	-	11	1778	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_uc003ved.2_Missense_Mutation_p.R418H|COG5_uc003vee.2_Missense_Mutation_p.R418H	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	418					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATTATAAAGACGTAATAATTT	0.343000													82	31					0	0	0.014410	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	A	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577000													3	35					0	0	0.004672	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23692250	23692250	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr15:23692250T>C	uc021sfy.1	-	0	141	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	GOLGA6L2_uc010ayh.2_Non-coding_Transcript					RecName: Full=Golgin subfamily A member 6-like protein 2;											breast(1)|endometrium(7)	8						TTTACCTTTTTCTTGGCCTCA	0.572000													5	1					0	0	0.000602	0	0
C1orf201	90529	broad.mit.edu	37	1	24727850	24727850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:24727850C>T	uc001bjc.3	-	1	196	c.29G>A	c.(28-30)cGc>cAc	p.R10H	C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Missense_Mutation_p.A3T|C1orf201_uc001bjd.3_Missense_Mutation_p.R10H	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	10										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		TTTGCCAGTGCGTTCATTTTT	0.418000													18	22					0	0	0.007413	0	0
MACROD2	140733	broad.mit.edu	37	20	15843442	15843442	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr20:15843442A>T	uc002wou.3	+	8	962	c.698A>T	c.(697-699)aAa>aTa	p.K233I	MACROD2_uc002wot.3_Missense_Mutation_p.K233I|MACROD2_uc002woz.3_5'UTR|MACROD2_uc002wpb.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	233	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATCTACAAAAAGAAAATG	0.348000													13	28					0	0	0.003163	0	0
PIK3R2	5296	broad.mit.edu	37	19	18272833	18272833	+	Silent	SNP	C	C	T	rs68016487		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:18272833C>T	uc002nia.1	+	6	1385	c.873C>T	c.(871-873)caC>caT	p.H291H	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	291	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TTCAGGAACACTTGGAAGAGC	0.612000													28	37					0	0	0.008361	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438610	6438610	+	Silent	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:6438610C>T	uc001qnu.3	-	9	1539	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	TNFRSF1A_uc001qnt.3_Silent_p.P304P|TNFRSF1A_uc010sey.2_Silent_p.P180P|TNFRSF1A_uc010sez.2_Silent_p.P304P|TNFRSF1A_uc009zek.3_Silent_p.P369P	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	412	Death.			Missing (in Ref. 5; AAA36756).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTCGCGCCGCGGCGTGCGCC	0.721000													5	6					0	0	0.000602	0	0
USP35	57558	broad.mit.edu	37	11	77916930	77916930	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:77916930G>A	uc021qny.1	+	6	1596	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	USP35_uc001oze.2_Missense_Mutation_p.G170R|USP35_uc001ozc.3_5'UTR|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_Nonsense_Mutation_p.W23*|USP35_uc001ozf.3_Missense_Mutation_p.G145R	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	414					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGCTGCTGGGGCAGGATGC	0.587000													71	89					0	0	0.014410	0	0
FGF20	26281	broad.mit.edu	37	8	16850596	16850596	+	Silent	SNP	T	T	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:16850596T>C	uc003wxc.1	-	2	754	c.621A>G	c.(619-621)ctA>ctG	p.L207L	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	207					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTACATCAGTAGGTCCTTGT	0.423000													36	67					0	0	0.011902	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956649	102956649	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:102956649G>A	uc002tbu.1	+	3	635	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_uc010ywa.2_Missense_Mutation_p.V5I|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.V122I	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	122	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATTCAACAGTATCTGGATC	0.343000													13	19					0	0	0.013537	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508596	106508596	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106508596C>T	uc003vdv.4	+	1	675	c.590C>T	c.(589-591)gCc>gTc	p.A197V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A197V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A197V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	197					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTCTACGCCATGCACCCG	0.632000													21	149					0	0	0.012319	0	0
OR5M3	219482	broad.mit.edu	37	11	56237959	56237959	+	Silent	SNP	G	G	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:56237959G>A	uc010rjk.2	-	0	56	c.15C>T	c.(13-15)acC>acT	p.T5T	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTCACATCGGTGAAATTGA	0.328000													19	36					0	0	0.008871	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													10	65	---	---	---	---					
SULT1C2	6819	broad.mit.edu	37	2	108921152	108921152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:108921152delA	uc002tdy.3	+	4	951	c.498delA	c.(496-498)ggafs	p.G166fs	SULT1C2_uc010ywp.1_Frame_Shift_Del_p.G81fs|SULT1C2_uc010ywq.2_Frame_Shift_Del_p.G180fs|SULT1C2_uc002tdx.3_Frame_Shift_Del_p.G177fs	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCATCAATGGAAAAGGTACGG	0.473													37	74	---	---	---	---					
ZNF454	285676	broad.mit.edu	37	5	178392212	178392221	+	Frame_Shift_Del	DEL	GAAGCCTTTT	GAAGCCTTTT	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:178392212_178392221delGAAGCCTTTT	uc003mjo.2	+	4	1108_1117	c.807_816delGAAGCCTTTT	c.(805-816)gagaagccttttfs	p.E269fs	ZNF454_uc010jkz.2_Frame_Shift_Del_p.E269fs|ZNF454_uc021yjc.1_Frame_Shift_Del_p.E269fs	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATACTGGAGAGAAGCCTTTTGAATGCAACT	0.395													24	68	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:133150232_133150233insT	uc003ytj.3	-	11	1824_1825	c.1599_1600insA	c.(1597-1602)aaattcfs	p.K533fs	KCNQ3_uc003yti.3_Frame_Shift_Ins_p.K413fs|KCNQ3_uc010mdt.3_Frame_Shift_Ins_p.K533fs	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTCCTTGAATTTTTTTTTAT	0.455													9	282	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													7	132	---	---	---	---					
SMOC1	64093	broad.mit.edu	37	14	70442501	70442502	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:70442501_70442502delTC	uc001xlt.2	+	3	730_731	c.448_449delTC	c.(448-450)tctfs	p.S150fs	SMOC1_uc001xls.2_Frame_Shift_Del_p.S150fs	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGTGGCTCTTCTGTGCAGAAT	0.525													24	41	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:99641544_99641546delCTC	uc001yga.3	-	3	1894_1896	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_uc001ygb.3_In_Frame_Del_p.E472del	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	543	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								2	4	---	---	---	---					
EIF4A1	1973	broad.mit.edu	37	17	7477923	7477923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7477923delC	uc002gho.2	+	13	2695	c.132delC	c.(130-132)ctcfs	p.L44fs	EIF4A1_uc002ghr.1_Frame_Shift_Del_p.L44fs|SNORA48_uc002ghs.1_5'Flank|SNORD10_uc002ght.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	44					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTCCCTTCTCCGTGGCATCT	0.478													28	52	---	---	---	---					
