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	ENST00000229769.2	+	2	460	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	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
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	ENST00000257821.4	-	15	2115	c.1492A>G	c.(1492-1494)Agt>Ggt	p.S498G	PHF21A_ENST00000323180.6_Missense_Mutation_p.S451G|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000418153.2_Missense_Mutation_p.S497G	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	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
CFB	629	broad.mit.edu	37	6	31911098	31911098	+	Splice_Site	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.chr6:31911098T>C	ENST00000556679.1	+	8	1051		c.e8+2		CFB_ENST00000477310.1_Splice_Site|C2_ENST00000452323.2_Splice_Site|C2_ENST00000299367.5_Splice_Site|C2_ENST00000442278.2_Splice_Site|CFB_ENST00000456570.1_Splice_Site|C2_ENST00000469372.1_Splice_Site			P00751	CFAB_HUMAN	complement factor B						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						ACTATTAAGGTACCAGGAAGG	0.552000													24	28					0	0	0.003330	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	ENST00000300127.2	+	1	125	c.102G>T	c.(100-102)gtG>gtT	p.V34V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	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	9.11675e-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	ENST00000377107.2	+	1	367	c.13G>A	c.(13-15)Gca>Aca	p.A5T	USP11_ENST00000218348.3_Missense_Mutation_p.A48T			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	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
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	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.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	22					0	0	0.009096	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	ENST00000428826.2	-	10	1145		c.e10+1		EZH1_ENST00000592743.1_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000590078.1_Splice_Site|EZH1_ENST00000585893.1_Splice_Site			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA 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	2.26281e-10	0.010504	1	0
CTD-2139B15.2	0	broad.mit.edu	37	5	17354125	17354125	+	RNA	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.chr5:17354125G>A	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							TTCAGGTAATGTGTCTCAATG	0.438000													25	19					0	0	0.004656	0	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	ENST00000335016.5	+	13	1914	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P583L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	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	ENST00000306151.4	+	3	3573	c.3509C>T	c.(3508-3510)aCg>aTg	p.T1170M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1170	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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	ENST00000332175.8	+	6	1700		c.e6-1		PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						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	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleolus	protein binding	p.I303I(1)		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	ENST00000256255.6	-	5	1207	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	TMEM66_ENST00000545648.1_Missense_Mutation_p.Y145C|TMEM66_ENST00000536273.1_Missense_Mutation_p.Y145C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	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	ENST00000303045.6	-	14	2107	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G554E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	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	ENST00000368168.3	-	5	1087	c.980_splice	c.e5+1	p.R327_splice		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	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
TRDV1	0	broad.mit.edu	37	14	22564370	22564370	+	RNA	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.chr14:22564370A>G	ENST00000390452.2	+	0	62																											GCCTTCAGCTACTCTGGTATG	0.453000													4	7					0	0	0.009096	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	ENST00000585696.1	+	2	1310	c.80T>G	c.(79-81)tTg>tGg	p.L27W	ZNF567_ENST00000536254.2_Missense_Mutation_p.L58W|ZNF567_ENST00000588311.1_Missense_Mutation_p.L27W|ZNF567_ENST00000392163.2_Missense_Mutation_p.L27W|ZNF567_ENST00000360729.4_Missense_Mutation_p.L27W			Q8N184	ZN567_HUMAN	zinc finger protein 567	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	ENST00000271469.3	+	6	1314	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	UAP1_ENST00000367926.4_Silent_p.L338L|UAP1_ENST00000367924.1_Silent_p.L338L|UAP1_ENST00000367925.1_Silent_p.L338L			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	338					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	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	ENST00000297737.6	-	5	526	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	127						nucleus	DNA binding|zinc ion binding			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	ENST00000264690.6	+	14	1893	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	569	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.G569E(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	ENST00000420246.2	-	4	461	c.329G>C	c.(328-330)cGt>cCt	p.R110P	TP53_ENST00000455263.2_Missense_Mutation_p.R110P|TP53_ENST00000359597.4_Missense_Mutation_p.R110P|TP53_ENST00000445888.2_Missense_Mutation_p.R110P|TP53_ENST00000413465.2_Missense_Mutation_p.R110P|TP53_ENST00000269305.4_Missense_Mutation_p.R110P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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	ENST00000359028.2	+	48	11771	c.11546C>T	c.(11545-11547)cCa>cTa	p.P3849L	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3795L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3845L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3849					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	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	ENST00000298232.7	-	6	463	c.96C>T	c.(94-96)acC>acT	p.T32T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.T32T|TPTE_ENST00000361285.4_Silent_p.T32T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(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	ENST00000373344.5	-	30	6759	c.6545A>G	c.(6544-6546)aAg>aGg	p.K2182R	ATRX_ENST00000395603.3_Missense_Mutation_p.K2144R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2182	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	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	ENST00000420246.2	-	6	755	c.623A>G	c.(622-624)gAc>gGc	p.D208G	TP53_ENST00000455263.2_Missense_Mutation_p.D208G|TP53_ENST00000359597.4_Missense_Mutation_p.D208G|TP53_ENST00000445888.2_Missense_Mutation_p.D208G|TP53_ENST00000413465.2_Missense_Mutation_p.D208G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D208G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(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
WBP7	0	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	ENST00000420124.1	+	12	3704	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	WBP7_ENST00000222270.7_Missense_Mutation_p.R1235Q|KMT2B_ENST00000607650.1_RNA																							GAGGCCGAGCGGCCCCTGCCC	0.597000													86	145					0	0	0.014410	0	0
C2	717	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	ENST00000418949.2	+	6	992	c.942C>A	c.(940-942)gcC>gcA	p.A314A	CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000299367.5_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CACTCACAGCCCACCTCCTCC	0.473000													15	27					1.49906e-05	1.70441e-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	ENST00000338487.5	-	2	318	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	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	ENST00000273936.4	+	1	1103	c.1044T>C	c.(1042-1044)aaT>aaC	p.N348N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	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	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								25	53					0	0	0.004656	0	0
KMT2D	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	ENST00000301067.7	-	9	1214	c.1215A>G	c.(1213-1215)caA>caG	p.Q405Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTTCCTTGGGTTGCATAGAGG	0.557000													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	ENST00000378402.5	+	56	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	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
CTD-2049J23.2	0	broad.mit.edu	37	3	159819304	159819304	+	RNA	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.chr3:159819304C>T	ENST00000497452.1	-	0	517																											TGCAAAGAAGCTGTTGCACTC	0.383000													60	99					0	0	0.014410	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	ENST00000369763.4	-	2	1426	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			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	ENST00000338230.3	-	3	1846	c.1579A>G	c.(1579-1581)Aag>Gag	p.K527E		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	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	ENST00000333244.5	-	7	12312	c.12193G>A	c.(12193-12195)Gac>Aac	p.D4065N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	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	ENST00000340482.3	-	1	311	c.135C>T	c.(133-135)ccC>ccT	p.P45P	MPO_ENST00000225275.3_Silent_p.P45P			P05164	PERM_HUMAN	myeloperoxidase	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	ENST00000257192.4	+	6	776	c.564C>A	c.(562-564)aaC>aaA	p.N188K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	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	2.26281e-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	ENST00000299238.5	+	1	939	c.854T>G	c.(853-855)tTc>tGc	p.F285C		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	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	ENST00000313708.6	-	13	1572	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					multicellular organismal development	nucleus	DNA binding|metal ion binding		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	0	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	ENST00000343070.2	+	6	1155	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	327					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			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	ENST00000399839.1	-	4	884	c.614C>T	c.(613-615)tCg>tTg	p.S205L	CECR1_ENST00000262607.3_Missense_Mutation_p.S205L|CECR1_ENST00000399837.2_Missense_Mutation_p.S205L|CECR1_ENST00000449907.2_Missense_Mutation_p.S163L			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	205	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	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	ENST00000261592.5	-	2	588	c.291A>G	c.(289-291)ctA>ctG	p.L97L	NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.L97L|NOL4_ENST00000538587.1_Silent_p.L23L|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	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	ENST00000355810.4	+	4	905	c.786A>G	c.(784-786)ctA>ctG	p.L262L	ART3_ENST00000341029.5_Silent_p.L262L|ART3_ENST00000349321.3_Silent_p.L262L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	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
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	ENST00000308647.7	+	10	1123	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	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
SRP19	6728	broad.mit.edu	37	5	112203073	112203073	+	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.chr5:112203073T>C	ENST00000282999.3	+	5	378	c.306T>C	c.(304-306)taT>taC	p.Y102Y	SRP19_ENST00000505459.1_Intron|CTC-554D6.1_ENST00000520401.1_Intron|SRP19_ENST00000512790.1_Intron|SRP19_ENST00000515463.1_Intron			P09132	SRP19_HUMAN	signal recognition particle 19kDa	102					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TCTCAGATTATACACTAAGCC	0.308000													29	31					0	0	0.009535	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	ENST00000392621.1	-	4	692	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	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
TRBV6-4	0	broad.mit.edu	37	7	142250978	142250978	+	RNA	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	ENST00000390360.3	-	0	89																											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	ENST00000243077.3	+	7	1310	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	LRP1_ENST00000554174.1_Missense_Mutation_p.V282M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	282					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|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	ENST00000272847.2	+	6	791	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	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	0	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	ENST00000393603.2	-	12	1524	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_ENST00000297135.3_Missense_Mutation_p.R418H|COG5_ENST00000347053.3_Missense_Mutation_p.R418H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	418					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|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
ZNF506	440515	broad.mit.edu	37	19	19905656	19905656	+	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.chr19:19905656C>T	ENST00000443905.2	-	4	1187	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.G315D|ZNF506_ENST00000540806.2_Missense_Mutation_p.G347D|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAGGTTTTGCCACATTCGTC	0.408000													4	71					0	0	0.009096	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	ENST00000567107.1	-	1	131	c.79A>G	c.(79-81)Aaa>Gaa	p.K27E	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.K27E|GOLGA6L2_ENST00000345070.5_5'UTR					golgin A6 family-like 2											breast(1)|endometrium(7)	8						TTTACCTTTTTCTTGGCCTCA	0.572000													5	1					0	0	0.000602	0	0
STPG1	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	ENST00000374409.1	-	2	283	c.29G>A	c.(28-30)cGc>cAc	p.R10H	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.R10H|STPG1_ENST00000003583.8_Missense_Mutation_p.A3T|STPG1_ENST00000440416.1_Missense_Mutation_p.A3T	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		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	ENST00000217246.4	+	9	1093	c.698A>T	c.(697-699)aAa>aTa	p.K233I	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.K233I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	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	ENST00000593731.1	+	7	1433	c.873C>T	c.(871-873)caC>caT	p.H291H	PIK3R2_ENST00000222254.7_Silent_p.H291H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	291	Rho-GAP.				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|T cell costimulation|T cell receptor signaling pathway	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	ENST00000162749.2	-	10	1535	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	TNFRSF1A_ENST00000540022.1_Silent_p.P369P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	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	ENST00000529308.1	+	7	1501	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.G145R|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	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	ENST00000180166.5	-	3	769	c.621A>G	c.(619-621)ctA>ctG	p.L207L		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	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	ENST00000311734.2	+	4	703	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	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	ENST00000359195.3	+	2	900	c.590C>T	c.(589-591)gCc>gTc	p.A197V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A197V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A197V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	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	ENST00000312240.2	-	1	55	c.15C>T	c.(13-15)acC>acT	p.T5T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	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	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						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	ENST00000326853.5	+	6	984	c.531delA	c.(529-531)ggfs	p.G177fs	SULT1C2_ENST00000409880.1_Frame_Shift_Del_p.G129fs|SULT1C2_ENST00000437390.2_Frame_Shift_Del_p.G180fs|SULT1C2_ENST00000251481.6_Frame_Shift_Del_p.G166fs	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	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	ENST00000320129.3	+	5	1110_1119	c.807_816delGAAGCCTTTT	c.(805-816)gafs	p.EKPF269fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.EKPF269fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	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	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6775144	6775145	+	RNA	INS	-	-	T	rs28729319		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.chr7:6775144_6775145insT	ENST00000486256.1	+	0	833					NR_002217.1																						TTTTTTTTTTCTTTTTGAGACG	0.396													2	4	---	---	---	---					
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	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aatcaafs	p.NQ533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(1)		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	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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	ENST00000381280.4	+	4	701_702	c.448_449delTC	c.(448-450)tfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(1)		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	ENST00000345514.2	-	3	1680_1682	c.1414_1416delGAG	c.(1414-1416)del	p.E472del	BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543						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	ENST00000293831.8	+	3	148	c.132delC	c.(130-132)ctfs	p.L44fs	EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.L44fs|EIF4A1_ENST00000380512.5_Frame_Shift_Del_p.L28fs|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.L44fs	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	44					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap 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	---	---	---	---					
