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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AMPD2	271	broad.mit.edu	37	1	110168798	110168798	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:110168798C>G	uc009wfh.1	+	4	1074	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.L97V|AMPD2_uc001dyc.1_Missense_Mutation_p.L178V|AMPD2_uc010ovr.1_Missense_Mutation_p.L103V|AMPD2_uc010ovs.1_Missense_Mutation_p.L60V|AMPD2_uc001dyd.1_Missense_Mutation_p.L59V	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	178					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGACATCCTGCTTCGGGC	0.632000														38			10		0	0	0.010729	0	0
MAPK4	5596	broad.mit.edu	37	18	48190668	48190668	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr18:48190668C>T	uc002lev.3	+	1	1340	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.R114C	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.R114C(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612000														69			10		0	0	0.010729	0	0
KRT20	54474	broad.mit.edu	37	17	39041184	39041184	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:39041184A>T	uc002hvl.3	-	0	312	c.254T>A	c.(253-255)cTa>cAa	p.L85Q		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	85	Coil 1A.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTTTTCTAGGTAGCTCGC	0.542000														53			6		0	0	0.001984	0	0
MUC6	4588	broad.mit.edu	37	11	1017526	1017526	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr11:1017526G>C	uc001lsw.2	-	30	5326	c.5275C>G	c.(5275-5277)Cct>Gct	p.P1759A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1759	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGACTTCAGGATGGTGTGTG	0.562000														600			9		0	0	0.009535	0	0
MUC7	4589	broad.mit.edu	37	4	71347047	71347047	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:71347047T>C	uc011cat.2	+	3	874	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MUC7_uc011cau.2_Missense_Mutation_p.S196P|MUC7_uc003hfj.3_Missense_Mutation_p.S196P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	196	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.587000														295			6		0	0	0.004482	0	0
MYH14	79784	broad.mit.edu	37	19	50812434	50812434	+	Splice_Site	SNP	G	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:50812434G>T	uc010enu.1	+	42	6007	c.5960_splice	c.e42+1	p.R1987_splice	MYH14_uc002prq.1_Splice_Site_p.R1954_splice|MYH14_uc002prr.1_Splice_Site_p.R1946_splice|MYH14_uc010ycb.2_Splice_Site_p.R297_splice|MYH14_uc002prs.1_Splice_Site_p.R297_splice	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1946					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin 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)		AACCGGCTTCGGTATGGTCAT	0.632000														133			7		7.48243e-07	8.08102e-07	0.006214	1	0
ASPRV1	151516	broad.mit.edu	37	2	70188202	70188202	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr2:70188202C>T	uc002sfz.4	-	0	1196	c.619G>A	c.(619-621)Gtg>Atg	p.V207M		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	207	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.V207A(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAACCTCACGGGCACTTTG	0.597000														72			4		0	0	0.014758	0	0
ATP10B	23120	broad.mit.edu	37	5	160061402	160061402	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:160061402C>T	uc003lym.1	-	11	2187	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	447					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	p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507000														45			26		0	0	0.027356	0	0
GPR98	84059	broad.mit.edu	37	5	90119413	90119413	+	Splice_Site	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:90119413G>A	uc003kju.3	+	76	16464	c.16368_splice	c.e76+1	p.K5456_splice	GPR98_uc003kjt.3_Splice_Site_p.K3162_splice|GPR98_uc003kjw.3_Splice_Site_p.K1117_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5456	Calx-beta 35.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		AACCAGAAAAGGTAAGAAATG	0.363000														13			10		0	0	0.008291	0	0
GRID2	2895	broad.mit.edu	37	4	94436513	94436513	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:94436513G>A	uc011cdt.2	+	12	2402	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	GRID2_uc011cdu.2_Missense_Mutation_p.S620N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	715					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCAACCGAAGCAATGGATCG	0.473000														74			20		0	0	0.014323	0	0
ATN1	1822	broad.mit.edu	37	12	7050146	7050146	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:7050146C>T	uc001qrw.1	+	7	3555	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	ATN1_uc001qrx.1_Silent_p.H1106H|C12orf57_uc009zfj.1_5'Flank	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1106					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTTCCTCACCCTCTGCACG	0.567000														51			16		0	0	0.004990	0	0
PTPN11	5781	broad.mit.edu	37	12	112915523	112915523	+	Missense_Mutation	SNP	A	G	G	rs28933386		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:112915523A>G	uc001ttx.3	+	7	1302	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_uc001ttw.1_Missense_Mutation_p.N308D	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	308	Tyrosine-protein phosphatase.		N -> D (in NS1; common mutation).|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.N308D(2)|p.N308S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CATCAATGCAAATATCATCAT	0.378000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					37			12		0	0	0.020292	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	G	G	rs141527317		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr22:50659212A>G	uc003bkb.1	-	15	4088	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_uc003bka.1_Silent_p.S279S|TUBGCP6_uc010har.1_Silent_p.S1184S|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617000														91			5		0	0	0.003080	0	0
PRG4	10216	broad.mit.edu	37	1	186276429	186276429	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:186276429C>T	uc001gru.4	+	6	1629	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T485T|PRG4_uc009wyl.3_Silent_p.T433T|PRG4_uc009wym.3_Silent_p.T392T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	526	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGTCTG	0.637000														116			5		0	0	0.004482	0	0
ABCA13	154664	broad.mit.edu	37	7	48506641	48506641	+	Splice_Site	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:48506641C>T	uc003toq.2	+	44	12929	c.12905_splice	c.e44+1	p.Q4302_splice	ABCA13_uc010kys.1_Splice_Site_p.Q1377_splice|ABCA13_uc010kyt.1_Splice_Site|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4302			Q -> R (in dbSNP:rs4917153).		transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACCCACGCCAGTAAGTGTC	0.473000														104			28		0	0	0.007291	0	0
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:47958147C>T	uc003csb.2	-	6	1696	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	MAP4_uc003csc.3_Silent_p.L390L|MAP4_uc011bbf.1_Silent_p.L367L|MAP4_uc003csf.3_Silent_p.L407L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	390	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L390L(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGAGCCAAGTCCATTT	0.448000														94			4		0	0	0.009096	0	0
ABCB1	5243	broad.mit.edu	37	7	87183111	87183111	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:87183111A>G	uc003uiz.2	-	9	1458	c.965T>C	c.(964-966)cTc>cCc	p.L322P	ABCB1_uc011khc.2_Missense_Mutation_p.L258P	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	322	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCCCTGAGAGGACCAAGGT	0.393000														42			19		0	0	0.016522	0	0
IL16	3603	broad.mit.edu	37	15	81571959	81571959	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr15:81571959C>T	uc021ssh.1	+	6	1026	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.L309L|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.L351L|IL16_uc021ssg.1_Silent_p.L309L|IL16_uc002bgg.3_Silent_p.L309L|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	309	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCTCCTTCCCTGTGCAGCCA	0.612000														23			17		0	0	0.007413	0	0
MAPK3	5595	broad.mit.edu	37	16	30134372	30134372	+	Silent	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:30134372G>A	uc002dws.3	-	0	259	c.159C>T	c.(157-159)taC>taT	p.Y53Y	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'Flank|MAPK3_uc002dwv.4_Silent_p.Y53Y|MAPK3_uc002dwt.3_Silent_p.Y53Y	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	53	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGACCATGCCGTACGCGCCCT	0.726000														50			3		0	0	0.009096	0	0
CPN1	1369	broad.mit.edu	37	10	101841262	101841262	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr10:101841262C>T	uc001kql.2	-	0	381	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	41	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597000														87			4		0	0	0.009096	0	0
TAF1	6872	broad.mit.edu	37	X	70621406	70621406	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:70621406G>T	uc004dzu.4	+	24	3863	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.G1292V|TAF1_uc004dzv.4_Missense_Mutation_p.G445V	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1271					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGTGCCATTGGACACATGAGG	0.458000														14			14		1.3612e-06	1.44127e-06	0.024245	1	0
C20orf26	26074	broad.mit.edu	37	20	20271009	20271009	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:20271009G>A	uc002wru.3	+	23	3304	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1064										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACTCCCTTGGAGGTACAAAT	0.348000														40			14		0	0	0.007413	0	0
ABCA7	10347	broad.mit.edu	37	19	1056395	1056395	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:1056395C>T	uc002lqw.4	+	32	4714	c.4483C>T	c.(4483-4485)Ctc>Ttc	p.L1495F	ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1495					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGCAATCCTCCGTGCTCA	0.612000														66			23		0	0	0.006320	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011553	46011553	+	Silent	SNP	A	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:46011553A>G	uc002zfm.3	-	0	834	c.813T>C	c.(811-813)tgT>tgC	p.C271C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	271	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACGGGCACACAGCAGGCGT	0.647000														269			6		0	0	0.004482	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000														96			5		0	0	0.014758	0	0
FCHO1	23149	broad.mit.edu	37	19	17895689	17895689	+	Silent	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:17895689G>A	uc002nhg.3	+	25	2661	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	FCHO1_uc010ebb.2_Silent_p.V794V|FCHO1_uc002nhh.2_Silent_p.V794V|FCHO1_uc010xpw.1_Silent_p.V744V	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	794										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			18		0	0	0.014323	0	0
ACOT8	10005	broad.mit.edu	37	20	44472287	44472287	+	Silent	SNP	C	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:44472287C>G	uc002xqa.2	-	4	814	c.720G>C	c.(718-720)ctG>ctC	p.L240L	ACOT8_uc010zxe.2_3'UTR|ACOT8_uc002xqc.2_3'UTR|ACOT8_uc010zxf.2_Silent_p.L120L	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	240					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAGGCAGCAGTGCAGTGC	0.597000														46			15		0	0	0.006122	0	0
NTF3	4908	broad.mit.edu	37	12	5603797	5603797	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:5603797C>T	uc001qnl.4	+	0	500	c.417C>T	c.(415-417)taC>taT	p.Y139Y	NTF3_uc001qnk.4_Silent_p.Y152Y	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	139					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138W(1)|p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGAAACGGTACGCGGAGCATA	0.602000														106			35		0	0	0.021022	0	0
MUC7	4589	broad.mit.edu	37	4	71347240	71347240	+	Missense_Mutation	SNP	T	C	C	rs145745951	byFrequency	TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:71347240T>C	uc011cat.2	+	3	1067	c.779T>C	c.(778-780)gTc>gCc	p.V260A	MUC7_uc011cau.2_Missense_Mutation_p.V260A|MUC7_uc003hfj.3_Missense_Mutation_p.V260A	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	260	Thr-rich.					extracellular region	protein binding	p.V260A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGTCCCACCCACA	0.587000														350			7		0	0	0.006214	0	0
CD300A	11314	broad.mit.edu	37	17	72473594	72473594	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:72473594C>T	uc002jkv.3	+	3	874	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	CD300A_uc002jkw.3_Silent_p.L72L|CD300A_uc010dfr.3_Silent_p.L72L|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	185					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTCCTCTCCCTGCTGGCATT	0.512000														67			17		0	0	0.014323	0	0
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:47958144A>G	uc003csb.2	-	6	1699	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	MAP4_uc003csc.3_Silent_p.A391A|MAP4_uc011bbf.1_Silent_p.A368A|MAP4_uc003csf.3_Silent_p.A408A	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	391	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A391A(3)|p.L390L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGAGCCAAGTCCA	0.443000														92			4		0	0	0.009096	0	0
KCNH6	81033	broad.mit.edu	37	17	61621618	61621618	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:61621618C>T	uc002jay.3	+	11	2430	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	KCNH6_uc010wpl.2_Missense_Mutation_p.P625S|KCNH6_uc010wpm.2_Missense_Mutation_p.P748S|KCNH6_uc002jaz.1_Missense_Mutation_p.P695S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	784					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGATGCAGCCCCTCCCCTGAG	0.612000														33			16		0	0	0.010504	0	0
abParts	0	broad.mit.edu	37	22	22661528	22661528	+	RNA	SNP	A	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr22:22661528A>G	uc021wml.1	+	29		c.2337A>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGATCCAATCATATTTTCTGT	0.458000														23			4		0	0	0.001984	0	0
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:33287900C>T	uc003oec.3	-	4	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Silent_p.E451E|DAXX_uc021ywo.1_Silent_p.E451E|DAXX_uc011dre.2_Silent_p.E463E|DAXX_uc003oed.3_Silent_p.E451E|DAXX_uc011drd.2_Silent_p.E376E	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(4)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									30			3		0	0	0.004672	0	0
PRB2	653247	broad.mit.edu	37	12	11546007	11546007	+	Silent	SNP	T	C	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:11546007T>C	uc010shk.1	-	2	1040	c.1005A>G	c.(1003-1005)aaA>aaG	p.K335K		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGAGGTTTGTTGCCTC	0.612000														183			4		0	0	0.021553	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432731	140432731	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:140432731G>A	uc003lik.1	+	0	1753	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R559H(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAATCGTCCAATGATC	0.502000														44			22		0	0	0.027356	0	0
F5	2153	broad.mit.edu	37	1	169510259	169510259	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:169510259G>T	uc001ggg.1	-	12	4214	c.4069C>A	c.(4069-4071)Ctt>Att	p.L1357I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1357	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.517000														214			8		4.1943e-16	4.62229e-16	0.008291	1	0
PLCG2	5336	broad.mit.edu	37	16	81944259	81944259	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:81944259G>A	uc002fgt.3	+	17	2046	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	PLCG2_uc010chg.1_Missense_Mutation_p.R623H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	623	SH2 1.			R -> P (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACGCACCTGCGCTGCGCCGAG	0.632000														420			7		0	0	0.006214	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														26			5		0	0	0.021553	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000														266			13		0	0	0.028581	0	0
RNF208	727800	broad.mit.edu	37	9	140114928	140114928	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr9:140114928G>A	uc004clz.2	-	0	848	c.737C>T	c.(736-738)gCg>gTg	p.A246V		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	246							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGCGGCCCCACA	0.706000														13			3		0	0	0.004672	0	0
FGFR4	2264	broad.mit.edu	37	5	176519745	176519745	+	Silent	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:176519745C>T	uc003mfl.3	+	7	1184	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_uc003mfm.3_Silent_p.I339I|FGFR4_uc011dfu.2_Silent_p.I339I|FGFR4_uc011dfw.1_Silent_p.I339I|FGFR4_uc003mfo.3_Silent_p.I339I	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	339	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632000										TSP Lung(9;0.080)				124			5		0	0	0.021553	0	0
FCRL3	115352	broad.mit.edu	37	1	157665876	157665876	+	Silent	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:157665876G>A	uc001fqz.4	-	6	1378	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.N88N|FCRL3_uc001frb.3_Silent_p.N362N|FCRL3_uc001frc.1_Silent_p.N362N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	362	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTGTGAACGTTATCAGCTG	0.532000														75			7		0	0	0.006214	0	0
TMTC2	160335	broad.mit.edu	37	12	83379779	83379779	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:83379779A>G	uc001szt.3	+	7	2456	c.2024A>G	c.(2023-2025)gAc>gGc	p.D675G	TMTC2_uc001szs.1_Missense_Mutation_p.D675G|TMTC2_uc010suk.2_Missense_Mutation_p.D430G	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	675						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCAAGACTGACCACATCCCT	0.458000														65			31		0	0	0.007835	0	0
TRIM15	89870	broad.mit.edu	37	6	30131720	30131720	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:30131720G>A	uc010jrx.3	+	0	738	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	87					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGAGCACGGCGAGAAGAT	0.632000														46			3		0	0	0.004672	0	0
PDE4D	5144	broad.mit.edu	37	5	58489358	58489358	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:58489358C>T	uc003jsa.2	-	2	824	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_uc003jrx.2_Missense_Mutation_p.G82R|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.G154R|PDE4D_uc003jsb.3_Missense_Mutation_p.G157R|PDE4D_uc003jsc.3_Missense_Mutation_p.G154R|PDE4D_uc003jrv.2_Missense_Mutation_p.G88R|PDE4D_uc003jrw.2_Missense_Mutation_p.G96R|PDE4D_uc010iwi.1_Missense_Mutation_p.G50R	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	218					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AAGTCATCTCCGTGTCTGAAA	0.398000														25			6		0	0	0.003080	0	0
PRB2	653247	broad.mit.edu	37	12	11546009	11546009	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:11546009T>G	uc010shk.1	-	2	1038	c.1003A>C	c.(1003-1005)Aaa>Caa	p.K335Q		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGAGGTTTGTTGCCTCCT	0.612000														178			4		0	0	0.014758	0	0
LCE2B	26239	broad.mit.edu	37	1	152659476	152659476	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:152659476G>T	uc001fai.3	+	1	211	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	LCE2B_uc021ozd.1_Missense_Mutation_p.G53W	NM_014357	NP_055172	O14633	LCE2B_HUMAN	Homo sapiens late cornified envelope 2B (LCE2B), mRNA.	53	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCTCTGGGGGCTGCTG	0.642000														248			11		0.000978159	0.00101578	0.010729	1	0
WDR78	79819	broad.mit.edu	37	1	67371036	67371037	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:67371036_67371037insA	uc001dcx.3	-	1	248_249	c.192_193insT	c.(190-195)aagaagfs	p.K64fs	WDR78_uc001dcy.3_Frame_Shift_Ins_p.K64fs	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	64										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTAATAGACTTCTTTGGTTGTG	0.322													---	16	---	---	16	---					
PHLDB2	90102	broad.mit.edu	37	3	111604041	111604042	+	Frame_Shift_Ins	INS	-	CAGA	CAGA			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:111604041_111604042insCAGA	uc010hqa.3	+	1	1528_1529	c.1117_1118insCAGA	c.(1117-1119)tcafs	p.S373fs	PHLDB2_uc003dyc.3_Frame_Shift_Ins_p.S400fs|PHLDB2_uc003dyd.3_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dyg.3_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dyh.3_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dye.4_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dyf.4_Frame_Shift_Ins_p.S373fs	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	373						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCTGGAGAGTCAGACAGAGTT	0.515													---	83	---	---	23	---					
NCOR2	9612	broad.mit.edu	37	12	124817682	124817683	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:124817682_124817683insC	uc021rga.1	-	41	6886_6887	c.6769_6770insG	c.(6769-6771)gagfs	p.E2257fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.E2241fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.E2250fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.E2240fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.E2240fs|NCOR2_uc010tax.2_Frame_Shift_Ins_p.E371fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2261					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTCC	0.644													---	86	---	---	32	---					
PIEZO1	9780	broad.mit.edu	37	16	88800373	88800375	+	In_Frame_Del	DEL	TCC	-	-	rs59446030		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:88800373_88800375delTCC	uc010vpb.2	-	16	2268_2270	c.2268_2270delGGA	c.(2266-2271)gaggac>gac	p.E756del	PIEZO1_uc010cib.3_In_Frame_Del_p.E293del|AK294743_uc010vpc.1_Intron	NM_001142864	NP_001136336	Q92508	PIEZ1_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 1 (PIEZO1), mRNA.	756						ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	ion channel activity	p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GTCCCTGGAGtcctcctcctcct	0.685													---	4	---	---	2	---					
ITSN1	6453	broad.mit.edu	37	21	35094910	35094910	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:35094910delT	uc002yta.1	+	3	407	c.139delT	c.(139-141)tttfs	p.F47fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_5'UTR|ITSN1_uc002ysy.3_Frame_Shift_Del_p.F47fs|ITSN1_uc002ysx.3_Frame_Shift_Del_p.F47fs|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmg.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmi.3_Frame_Shift_Del_p.F47fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.F47fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmk.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_5'UTR	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	47	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTAGAAACTTTTTTTTTCA	0.279													---	3	---	---	3	---					
RPS26P11	441502	broad.mit.edu	37	X	71264810	71264810	+	Splice_Site	DEL	A	-	-			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:71264810delA	uc004eai.3	+	1		c.553_splice	c.e1+1		NHSL2_uc011mqa.2_Intron					Homo sapiens ribosomal protein S26 pseudogene 11 (RPS26P11), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)	4						AATTGTACTTAAAAAAAAAAA	0.448													---	4	---	---	2	---					
