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
MAMDC2	256691	broad.mit.edu	37	9	72724721	72724721	+	Splice_Site	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:72724721G>A	ENST00000377182.4	+	4	1122		c.e4+1		MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2							endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACTGTATTGGTAAGTGGGCT	0.368000													46	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453437	179453437	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:179453437C>T	ENST00000589042.1	-	304	63239	c.63015G>A	c.(63013-63015)aaG>aaA	p.K21005K	TTN_ENST00000460472.2_Silent_p.K11940K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K19364K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K12065K|TTN_ENST00000342992.6_Silent_p.K18437K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K12132K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19364	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTGAATGCTTTTCCTTTT	0.418000													4	78					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223421	50223421	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:50223421G>A	ENST00000284509.6	-	16	1678	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGGTCCGGGATTTAAAA	0.398000													17	25					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809526	14809526	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:14809526G>A	ENST00000261170.3	-	12	1526	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	464			R -> L (in dbSNP:rs55684775).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTTCTGACGAAGTTCATAA	0.373000													25	38					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4850643	4850643	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:4850643C>T	ENST00000379333.1	-	12	1551	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	SLC23A2_ENST00000338244.1_Missense_Mutation_p.V387M|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V273M	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	387					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGCGACCACGGCACTGAGC	0.602000													27	46					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15133995	15133995	+	Translation_Start_Site	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:15133995G>A	ENST00000379554.3	+	0	26					NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACTTGGAGTCGCTGCAGCCAA	0.622000													12	12					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844064	123844064	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:123844064C>T	ENST00000369005.1	+	4	2389	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	TACC2_ENST00000515273.1_Silent_p.P683P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P683P|TACC2_ENST00000515603.1_Silent_p.P683P|TACC2_ENST00000334433.3_Silent_p.P683P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	683						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACTGTTCCCGAAGGAGCCA	0.582000													4	2					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													3	26					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289214	125289214	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:125289214C>T	ENST00000304880.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCACATAGCGGTCATACGC	0.512000													4	30					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46670842	46670842	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:46670842G>A	ENST00000239151.5	-	1	481	c.203C>T	c.(202-204)gCg>gTg	p.A68V	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	68						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CTCGCCCACCGCCCCAAAGTG	0.687000													4	14					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167671581	167671581	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:167671581G>A	ENST00000519204.1	+	25	5432	c.5314G>A	c.(5314-5316)Gtg>Atg	p.V1772M	TENM2_ENST00000403607.2_Missense_Mutation_p.V1717M|TENM2_ENST00000518659.1_Missense_Mutation_p.V1893M|TENM2_ENST00000520394.1_Missense_Mutation_p.V1654M|TENM2_ENST00000545108.1_Missense_Mutation_p.V1892M					teneurin transmembrane protein 2									p.V1893M(1)|p.V1772M(1)|p.V1726M(1)									AGCTGTCAACGTGTCATACTT	0.597000													26	33					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570880	71570880	+	Silent	SNP	C	C	T	rs139260372		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:71570880C>T	ENST00000338482.5	+	3	643	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CHST4_ENST00000572450.1_Silent_p.A100A|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Silent_p.A100A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	100					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATACGGGCCGTCTTCTTGT	0.582000													22	35					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569684	37569684	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr13:37569684C>T	ENST00000239891.3	-	2	182	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ALG5_ENST00000443765.1_Missense_Mutation_p.R39Q|ALG5_ENST00000413537.2_Missense_Mutation_p.R39Q|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	39					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTTCATGTCGATGGAGTGC	0.383000													15	38					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134706886	134706886	+	Silent	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:134706886G>T	ENST00000370752.4	+	11	1768	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	478										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCACAGGGGAAACTGCAC	0.353000													28	7					3.73148e-12	3.87318e-12	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131022430	131022430	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:131022430C>T	ENST00000421699.2	-	18	1728	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	572						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGTGCTGCTCCGACTGCAGTG	0.592000													28	46					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50750373	50750373	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:50750373G>A	ENST00000440075.2	+	12	1370	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	MYH14_ENST00000376970.2_Silent_p.K433K|MYH14_ENST00000596571.1_Silent_p.K433K|MYH14_ENST00000598205.1_Silent_p.K441K|MYH14_ENST00000601313.1_Silent_p.K441K|MYH14_ENST00000262269.8_Silent_p.K441K|MYH14_ENST00000425460.1_Silent_p.K441K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	433	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAGACTAAGGAACAGGTAG	0.597000													8	19					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148411245	148411245	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:148411245C>T	ENST00000515425.1	-	9	1108	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	SH3TC2_ENST00000394358.2_Missense_Mutation_p.R221K|SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R329K|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	336							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGAGTTCCTGCTCCTGCA	0.522000													17	16					0	0	1	0	0
TCTE3	6991	broad.mit.edu	37	6	170144257	170144257	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:170144257C>T	ENST00000366774.3	-	2	334	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	78					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TTAATTTTGCCAGGGCACTCT	0.373000													17	25					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136725	90136725	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:90136725C>T	ENST00000405460.2	+	78	17038	c.16942C>T	c.(16942-16944)Ctc>Ttc	p.L5648F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1309F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5648					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAGAGTGCTCCATACCAT	0.423000													16	23					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131149272	131149272	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:131149272G>T	ENST00000357668.1	-	13	1120	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ASAP1_ENST00000518721.1_Missense_Mutation_p.P365T			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	365	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTGGCTGGTTGCCTGTTA	0.448000													29	38					1.13719e-10	1.16562e-10	1	1	0
ANKRD1	27063	broad.mit.edu	37	10	92678671	92678671	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:92678671A>G	ENST00000371697.3	-	4	652	c.404T>C	c.(403-405)gTa>gCa	p.V135A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	135					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTTTTCTACTACTGGCAGTTT	0.343000													18	18					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:142795437C>T	ENST00000370498.1	-	2	994	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453000													132	16					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270361	48270361	+	Silent	SNP	G	G	A	rs72651616		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48270361G>A	ENST00000225964.5	-	26	1933	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	605	Triple-helical region.		G -> D (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G605G(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACGACAGCGCCAGGGGGTC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	15					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28995597	28995597	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:28995597C>T	ENST00000311008.11	+	12	1941	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.P567S|SPNS1_ENST00000334536.8_Missense_Mutation_p.P470S|SPNS1_ENST00000323081.8_Missense_Mutation_p.P449S|SPNS1_ENST00000352260.7_Missense_Mutation_p.P448S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	522					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CACCCGCGTGCCCGTGGCCAG	0.697000													9	18					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346763	102346763	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:102346763G>A	ENST00000328882.4	+	1	862	c.841G>A	c.(841-843)Gtt>Att	p.V281I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCACTCCCGTTTTGAATCC	0.343000													23	28					0	0	1	0	0
IGLV3-12	0	broad.mit.edu	37	22	23114963	23114963	+	RNA	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr22:23114963C>T	ENST00000390313.2	+	0	244																											GATCCCTGAGCGATTCTCTGG	0.567000													6	7					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	22					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774733	231774733	+	Silent	SNP	C	C	T	rs146835586		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:231774733C>T	ENST00000392040.1	-	2	1137	c.945G>A	c.(943-945)acG>acA	p.T315T	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.T315T	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	315					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCGGGAGATCGTGGTGTCCT	0.552000													30	36					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48616618	48616618	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48616618G>A	ENST00000268933.3	+	5	1412	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	EPN3_ENST00000537145.1_Missense_Mutation_p.R306Q|EPN3_ENST00000541226.1_Missense_Mutation_p.R195Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	278						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCATCAGCGGGACAGAGAG	0.597000													18	30					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547000													31	50					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567243	5567243	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:5567243C>T	ENST00000464611.1	-	3	254		c.e3-1		ACTB_ENST00000331789.5_3'UTR			P60709	ACTB_HUMAN	actin, beta						'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TTTTTAAATCCTGAGTCAAGC	0.398000													8	14					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25198440	25198440	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:25198440G>A	ENST00000276440.7	+	23	2419	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	792						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R792H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATTCAATTCGCCAGTTATTT	0.398000													8	6					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													8	40					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39179140	39179140	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:39179140G>C	ENST00000301819.6	+	26	3815	c.3638G>C	c.(3637-3639)tGc>tCc	p.C1213S	TTC21A_ENST00000431162.2_Missense_Mutation_p.C1212S|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.C1164S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1212							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GACATTTACTGCCAGGGCAGC	0.607000													4	13					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5727283	5727283	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:5727283G>A	ENST00000381624.3	+	3	192	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	44						integral to membrane											CTCTAGGACCGCCTGTATTTT	0.338000													28	69					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40040509	40040509	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:40040509G>C	ENST00000352035.2	-	19	2221	c.2091C>G	c.(2089-2091)ttC>ttG	p.F697L	ACLY_ENST00000353196.1_Missense_Mutation_p.F687L|ACLY_ENST00000590151.1_Missense_Mutation_p.F697L|ACLY_ENST00000393896.2_Missense_Mutation_p.F687L|ACLY_ENST00000537919.1_Missense_Mutation_p.F426L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	697					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATGATCCATGAATGTGGAGC	0.438000													20	27					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443000													34	33					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40558146	40558146	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:40558146G>A	ENST00000455577.2	+	5	1220	c.308G>A	c.(307-309)cGc>cAc	p.R103H	PAK6_ENST00000560346.1_Missense_Mutation_p.R103H|PAK6_ENST00000260404.4_Missense_Mutation_p.R103H|PAK6_ENST00000441369.1_Missense_Mutation_p.R103H|PAK6_ENST00000542403.2_Missense_Mutation_p.R103H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.R103H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	103	Linker.		R -> C (in dbSNP:rs36081263).				ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCGTGGCCGCAGCCCCACC	0.667000													3	10					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028985	141028985	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141028985C>T	ENST00000435817.2	-	5	402	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	FCHSD1_ENST00000522126.1_Missense_Mutation_p.A42T|FCHSD1_ENST00000519800.1_Missense_Mutation_p.A116T|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A116T	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	118									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCTTGGCGCTCCGCCCT	0.612000													68	137					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70010458	70010458	+	Missense_Mutation	SNP	G	G	A	rs3206834	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:70010458G>A	ENST00000532298.1	-	7	819	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GAGGGTGGAAGGGGAATAAGA	0.512000													3	21					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761801	55761801	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:55761801T>A	ENST00000278409.1	-	1	300	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAAGTACATCTGTAGGAAG	0.463000													29	53					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	123	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652000													3	24					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800020	74800020	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:74800020T>A	ENST00000305159.3	-	1	779	c.739A>T	c.(739-741)Agc>Tgc	p.S247C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGGGAGCTGCAGGTGGAG	0.567000													11	15					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95932397	95932397	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr14:95932397C>T	ENST00000334258.5	-	3	512	c.498G>A	c.(496-498)caG>caA	p.Q166Q	SYNE3_ENST00000557275.1_Silent_p.Q166Q|SYNE3_ENST00000553340.1_Silent_p.Q166Q	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GGAGCACCGCCTGGTTGTCCA	0.637000													20	31					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7477158	7477158	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:7477158G>A	ENST00000399422.4	+	11	1548	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	500					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TTGTTGAATCGGCTGTTGTCA	0.428000													15	29					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95657632	95657632	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:95657632C>T	ENST00000324972.6	+	11	1359	c.1167_splice	c.e11+1	p.T389_splice	DYNC1I1_ENST00000447467.2_Splice_Site_p.T372_splice|DYNC1I1_ENST00000359388.4_Splice_Site_p.T352_splice|DYNC1I1_ENST00000457059.1_Splice_Site_p.T372_splice|DYNC1I1_ENST00000437599.1_Splice_Site_p.T369_splice|DYNC1I1_ENST00000537881.1_Splice_Site_p.T352_splice	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	389					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493000													24	55					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107616242	107616242	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:107616242C>T	ENST00000393561.1	-	8	1337	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LAMB1_ENST00000222399.6_Missense_Mutation_p.V361M|LAMB1_ENST00000393560.1_Missense_Mutation_p.V361M			P07942	LAMB1_HUMAN	laminin, beta 1	361	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCACACACGCCTCCGCTG	0.517000													25	57					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016113	27016113	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:27016113G>A	ENST00000335756.4	+	4	589	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R104Q	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAACTGGCCCGGAGGATCCGG	0.552000													60	113					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113040	18113040	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:18113040G>A	ENST00000403915.1	+	3	1216	c.765G>A	c.(763-765)ctG>ctA	p.L255L	KCNS3_ENST00000304101.4_Silent_p.L255L|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAACCCTCTGAACATCATTG	0.512000													37	51					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4819013	4819013	+	Silent	SNP	C	C	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:4819013C>A	ENST00000302640.8	+	47	6551	c.6201C>A	c.(6199-6201)atC>atA	p.I2067I	ITPR1_ENST00000443694.2_Silent_p.I2067I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.I2034I|ITPR1_ENST00000354582.6_Silent_p.I2067I|ITPR1_ENST00000456211.2_Silent_p.I2019I|ITPR1_ENST00000423119.2_Silent_p.I2034I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2082					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAATGATATCAATCCTTTGG	0.423000													5	7					0.00198382	0.00200831	1	1	0
G6PC2	57818	broad.mit.edu	37	2	169764413	169764413	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:169764413T>G	ENST00000375363.3	+	5	984	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	298					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCTGTGCCTTGACCTCATT	0.473000													37	70					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:112469437G>C	ENST00000230538.7	-	18	2672	c.2275C>G	c.(2275-2277)Cta>Gta	p.L759V	LAMA4_ENST00000389463.4_Missense_Mutation_p.L752V|LAMA4_ENST00000424408.2_Missense_Mutation_p.L752V|LAMA4_ENST00000522006.1_Missense_Mutation_p.L752V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517000													26	7					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18604328	18604328	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr22:18604328G>A	ENST00000330423.3	+	2	159	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	29					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTGGAACACGGCATCCAGGCA	0.552000													3	40					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25057044	25057044	+	Silent	SNP	A	A	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:25057044A>C	ENST00000376709.4	-	5	1214	c.951T>G	c.(949-951)ccT>ccG	p.P317P	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	317					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCCATTCTCAGGGCTCACTT	0.542000													31	58					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:52622646G>A	ENST00000399231.3	-	34	4627	c.4384C>T	c.(4384-4386)Cga>Tga	p.R1462*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1435*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1460*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1487*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1459*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1462R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413000													56	71					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11725320	11725320	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:11725320G>A	ENST00000381486.2	+	8	1235	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GREB1_ENST00000381483.2_Missense_Mutation_p.R312H|GREB1_ENST00000263834.5_Missense_Mutation_p.R312H|GREB1_ENST00000234142.5_Missense_Mutation_p.R312H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	312						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAAAAAACGCCACAAAGGG	0.512000													14	11					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251647	216251647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:216251647G>A	ENST00000366943.2	-	27	5742	c.5356C>T	c.(5356-5358)Caa>Taa	p.Q1786*	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q1786*|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1786	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCCACTTGTGTAAAGGCA	0.348000										HNSCC(13;0.011)			119	169					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:1271606C>T	ENST00000447027.1	+	31	13563	c.13505C>T	c.(13504-13506)tCc>tTc	p.S4502F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642000													58	86					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906668	32906668	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:32906668T>G	ENST00000416244.2	-	2	324	c.130A>C	c.(130-132)Atc>Ctc	p.I44L	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.I76L|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.I44L			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	44	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGAAGGAGATGCAGTATGTG	0.527000													21	50					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553886	53553886	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:53553886C>T	ENST00000371494.4	-	11	1605	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	493						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTGGTCTCGCAGGGCAGCAG	0.607000													5	11					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104233397	104233397	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:104233397C>T	ENST00000238936.4	+	8	1233	c.996C>T	c.(994-996)taC>taT	p.Y332Y	TMEM180_ENST00000366277.2_Silent_p.Y61Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	332						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCGTCTACGCGGTGGTGC	0.637000													31	17					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	rs9333651		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:201047161G>A	ENST00000362061.3	-	11	1691	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582000													24	37					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72289381	72289381	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:72289381C>T	ENST00000334456.5	-	30	2756	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	PDE2A_ENST00000540345.1_Silent_p.E828E|PDE2A_ENST00000544570.1_Silent_p.E830E|PDE2A_ENST00000444035.2_Silent_p.E828E|PDE2A_ENST00000418754.2_Silent_p.E722E|PDE2A_ENST00000376450.3_Silent_p.E581E	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGGCCTTCTCCTGCAGGC	0.582000													26	37					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244617	56244617	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:56244617C>T	ENST00000332836.2	-	2	607	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	194	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453000													4	30					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961315	34961315	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:34961315G>T	ENST00000329357.5	+	1	403	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	123										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGTGGAAGCCCAGCTGAT	0.537000													28	18					6.04164e-23	6.35147e-23	1	1	0
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:35820491A>T	ENST00000399989.1	+	2	457	c.178A>T	c.(178-180)Agt>Tgt	p.S60C	MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92C|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532000													9	1					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18516372	18516372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:18516372G>T	ENST00000336714.3	+	12	1822	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	SEC23B_ENST00000377475.3_Nonsense_Mutation_p.E464*|SEC23B_ENST00000262544.2_Nonsense_Mutation_p.E464*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.E464*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	464					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATCTATTTTGAAGTTGTCAA	0.433000													3	26					1	1	1	1	0
GRIA1	0	broad.mit.edu	37	5	153056693	153056693	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:153056693G>A	ENST00000285900.5	+	7	1344	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	GRIA1_ENST00000521843.2_Missense_Mutation_p.G265E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G334E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G344E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G254E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G344E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	334					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGGCCAAGGGATCGACATC	0.537000													5	15					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	rs149542398	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:33031888C>T	ENST00000340811.4	-	2	410	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_ENST00000070846.6_Missense_Mutation_p.R101H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378000													4	64					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335542	141335542	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141335542A>T	ENST00000231484.3	-	1	3085	c.1875T>A	c.(1873-1875)gaT>gaA	p.D625E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	625	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTCTGCATCTCTTGCCA	0.582000													9	15					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													2	4	---	---	---	---