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
PCDHGA4	56111	broad.mit.edu	37	5	140734776	140734776	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:140734776G>A	ENST00000571252.1	+	1	9	c.9G>A	c.(7-9)gcG>gcA	p.A3A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGCGGCGCCTCCTGCTC	0.602000													8	42					0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6567843	6567843	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:6567843G>A	ENST00000266556.7	+	5	1102	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	313	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CTTGGCAAACGAAGCTCTGCT	0.552000													9	90					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94568627	94568627	+	Missense_Mutation	SNP	C	C	T	rs61748532	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:94568627C>T	ENST00000370225.3	-	5	600	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	ABCA4_ENST00000535735.1_Missense_Mutation_p.G172S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	172					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G172C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGACAGGCCGATGTTTTTA	0.463000													46	207					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr10:115368262G>A	ENST00000369358.4	-	32	3881	c.3637C>T	c.(3637-3639)Cgg>Tgg	p.R1213W	NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1205						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGCCGATATTTACTC	0.438000													20	154					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891303	45891303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr11:45891303C>T	ENST00000443527.2	+	7	1214	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CRY2_ENST00000417225.2_Missense_Mutation_p.R316W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	377	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCACCTGGCCCGGCATGCCGT	0.647000													11	82					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	98					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151917678	151917678	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr7:151917678C>T	ENST00000355193.2	-	23	3860	c.3642G>A	c.(3640-3642)gtG>gtA	p.V1214V	KMT2C_ENST00000262189.6_Silent_p.V1214V					lysine (K)-specific methyltransferase 2C																		GAAGGACGGCCACGCTATTCT	0.393000													26	60					0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66613625	66613625	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:66613625C>G	ENST00000268595.2	+	1	266	c.115C>G	c.(115-117)Caa>Gaa	p.Q39E	CMTM2_ENST00000379486.2_Missense_Mutation_p.Q39E	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	39					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGACAAACCTCAAAAGGCGGT	0.627000													12	113					0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5336447	5336447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:5336447C>T	ENST00000225698.4	-	6	818	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	C1QBP_ENST00000574444.1_Missense_Mutation_p.R142Q	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	246					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						GTCCACCCCTCGGTCGGCAAG	0.413000													6	46					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157727	145157727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr2:145157727G>A	ENST00000558170.2	-	8	2211	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R319*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R343*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R343*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	343						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCTCATTCGGCCATTTACA	0.413000													22	34					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953816	89953816	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:89953816G>A	ENST00000405460.2	+	21	4569	c.4473G>A	c.(4471-4473)acG>acA	p.T1491T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1491					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)		GGAAACTGACGCTTGAAGAAA	0.428000													31	78					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118972412	118972412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chrX:118972412G>A	ENST00000276201.2	-	9	994	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	UPF3B_ENST00000345865.2_Missense_Mutation_p.L296F|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	309	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCATCACTGAGATTCTCTTTG	0.378000													37	94					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971023	21971023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr9:21971023C>T	ENST00000304494.5	-	2	605	c.335G>A	c.(334-336)cGt>cAt	p.R112H	CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000361570.3_Silent_p.P167P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.P126P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	112			R -> RR (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGGGCAGACGGCCCCAGGC	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	21					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15686110	15686110	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr10:15686110C>T	ENST00000378076.3	-	13	1671	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	440					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGCCCACACTCCTTGCAGA	0.443000													8	61					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89861842	89861842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr15:89861842G>A	ENST00000268124.5	-	21	3745	c.3412C>T	c.(3412-3414)Cgc>Tgc	p.R1138C	POLG_ENST00000442287.2_Missense_Mutation_p.R1138C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1138					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCAGGTAGCGAACCTCGTCA	0.582000								DNA polymerases (catalytic subunits)					8	80					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640094	27640094	+	Missense_Mutation	SNP	C	C	T	rs150389178		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:27640094C>T	ENST00000261588.4	+	4	272	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	85										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATCATCACCGCGGAAAGCTAT	0.532000													12	158					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	50					1.66031e-10	1.81404e-10	1	1	0
SLC5A5	6528	broad.mit.edu	37	19	17983280	17983280	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr19:17983280G>T	ENST00000222248.3	+	1	499	c.152G>T	c.(151-153)gGc>gTc	p.G51V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	51					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCACCGGGGGCCGGCGCCTG	0.716000													4	17					0.00024832	0.000252601	1	1	0
PIRT	644139	broad.mit.edu	37	17	10728855	10728855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:10728855C>G	ENST00000580256.1	-	2	746	c.108G>C	c.(106-108)agG>agC	p.R36S		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	36						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CAGACTCGCTCCTGGAGCTGA	0.592000													3	15					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	20					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145057416	145057416	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr8:145057416C>A	ENST00000313028.7	-	8	2435	c.2341G>T	c.(2341-2343)Gct>Tct	p.A781S	PARP10_ENST00000524918.1_Missense_Mutation_p.A772S|PARP10_ENST00000525773.1_Missense_Mutation_p.A793S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	781	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCAGCACGGGCAGGG	0.652000													9	30					0.307466	0.307466	1	1	0
ORC2	4999	broad.mit.edu	37	2	201800559	201800559	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr2:201800559C>T	ENST00000234296.2	-	9	820	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	191					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ACCCCTTCATCATCCTCTGAG	0.428000													10	59					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299867	15299867	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr19:15299867C>T	ENST00000263388.2	-	8	1386	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	437	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCAGGGCCCCGACAGACACT	0.642000													5	39					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54014374	54014374	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chrX:54014374C>T	ENST00000338154.6	-	15	2238	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	PHF8_ENST00000338946.6_Silent_p.T477T|PHF8_ENST00000322659.8_Silent_p.T578T|PHF8_ENST00000357988.5_Silent_p.T614T	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	614					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCACCCTTTTCGTACTGAAGG	0.418000													11	20					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7921018	7921018	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr20:7921018C>G	ENST00000378789.3	-	1	103	c.52G>C	c.(52-54)Gta>Cta	p.V18L		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	18	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTGGAAGTACTGATTTAGCA	0.343000													33	79					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821560	100821560	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr15:100821560C>T	ENST00000268070.4	-	4	768	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	221					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTTCCTCCGCTCCCGCCAGT	0.617000													5	26					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137126	126137126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:126137126G>T	ENST00000299308.3	+	8	2047	c.2039G>T	c.(2038-2040)aGg>aTg	p.R680M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGACAAAAGGGCCATCGTC	0.607000													11	78					9.05144e-12	1.00761e-11	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13817689	13817689	+	Missense_Mutation	SNP	G	G	A	rs144983881	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:13817689G>A	ENST00000265104.4	-	42	7060	c.6956C>T	c.(6955-6957)aCg>aTg	p.T2319M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2319	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCCAAAGCGTAGAAAATAT	0.403000									Kartagener syndrome				15	113					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365014	13365014	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr6:13365014G>A	ENST00000379287.3	-	2	1798	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	GFOD1_ENST00000379284.1_Silent_p.S275S	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	378						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GCATGGCCTCGCTGATCAGGT	0.612000													15	21					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207049	58207049	+	Silent	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr11:58207049G>A	ENST00000302572.2	-	1	597	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATCTCACTGATGTAGTTGT	0.383000													13	66					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35467643	35467643	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr20:35467643G>A	ENST00000237536.4	-	2	1230	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	SOGA1_ENST00000357779.3_Missense_Mutation_p.R59C|SOGA1_ENST00000279034.5_Missense_Mutation_p.R59C	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	59										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCAGACCACGGATAAGCTCG	0.657000													14	130					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580950	2580950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:2580950G>A	ENST00000382350.1	-	1	470	c.125C>T	c.(124-126)cCa>cTa	p.P42L	AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.P42L|CEMP1_ENST00000565480.1_Missense_Mutation_p.P42L|AMDHD2_ENST00000302956.4_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	42						cytoplasm				lung(1)|skin(1)	2						TGCTGGGCCTGGGAGAGGAGC	0.642000													3	42					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	78					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34132255	34132255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr21:34132255G>T	ENST00000331923.4	-	6	1215	c.1026C>A	c.(1024-1026)taC>taA	p.Y342*	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.Y342*|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		GCATTGTCTGGTAAGTGTTCT	0.388000													10	93					1.58986e-06	1.67504e-06	1	1	0
KRT14	3861	broad.mit.edu	37	17	39740038	39740038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr17:39740038C>G	ENST00000167586.6	-	4	987	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	301	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCCTCGGCATCCTTGCGGTTC	0.547000													40	245					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72076802	72076802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:72076802G>C	ENST00000357731.4	-	5	934	c.695C>G	c.(694-696)tCt>tGt	p.S232C	NEGR1_ENST00000306821.3_Missense_Mutation_p.S104C|NEGR1_ENST00000434200.1_Missense_Mutation_p.S186C	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	232	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CACGGTGCCAGATTTAATTTC	0.428000													30	78					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532922	113532922	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:113532922G>C	ENST00000257600.3	+	7	1965	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	488					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E488*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGGGAAGATGGAGTTCCACCT	0.647000													8	82					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316882	30316882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr10:30316882G>A	ENST00000375377.1	-	3	2296	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	732								p.T732M(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCTGTGTGCGTCTGAGCTTC	0.577000													7	50					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60749689	60749689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr20:60749689G>A	ENST00000331758.3	+	10	1179	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G385S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G388S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	385	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCGGCCCTACGGCTATGAACA	0.582000			T	SSX1	synovial sarcoma								45	131					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43469294	43469294	+	Silent	SNP	C	C	G			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr6:43469294C>G	ENST00000372444.2	+	7	592	c.159C>G	c.(157-159)cgC>cgG	p.R53R	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.R53R|TJAP1_ENST00000372449.1_Silent_p.R53R|TJAP1_ENST00000372452.1_Silent_p.R53R|TJAP1_ENST00000372445.5_Silent_p.R53R|TJAP1_ENST00000436109.2_Silent_p.R53R|TJAP1_ENST00000259751.1_Silent_p.R53R	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	53						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGAGCTTCGCCGGCGCCTGG	0.632000													7	49					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189169	139189169	+	Silent	SNP	C	C	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:139189169C>T	ENST00000274710.3	+	2	349	c.144C>T	c.(142-144)caC>caT	p.H48H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	48					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGGGCACGAGCGAAGGG	0.652000													5	46					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343000								Other conserved DNA damage response genes					5	14					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77421911	77421911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:77421911G>A	ENST00000322886.7	-	11	2127	c.1892C>T	c.(1891-1893)tCa>tTa	p.S631L	E2F7_ENST00000416496.2_Missense_Mutation_p.S631L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	631					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGTGGAATCTGAGGGTTTCTA	0.423000													10	85					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102471452	102471452	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr14:102471452G>T	ENST00000360184.4	+	26	5476	c.5312G>T	c.(5311-5313)gGa>gTa	p.G1771V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1771	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCATGGGCGGAGGTGGAGAT	0.572000													15	45					1.49906e-05	1.55166e-05	1	1	0
HIST2H3D	653604	broad.mit.edu	37	1	149784864	149784864	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr1:149784864T>C	ENST00000331491.1	-	1	372	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	125					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCCAACTGGATGTCCTTGGGC	0.592000													8	59					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914376	75914376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr5:75914376delG	ENST00000296641.4	-	2	359	c.156delC	c.(154-156)ccfs	p.P52fs	F2RL2_ENST00000504899.1_Frame_Shift_Del_p.P30fs|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	52					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AGGCAGAAAAGGGGAACTCTT	0.438													17	141	---	---	---	---					
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699826	+	RNA	DEL	TT	TT	-	rs142232912		TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr7:29699825_29699826delTT	ENST00000426767.1	-	0	366					NR_024278.1																						ATTATTGACCTTTTTTTTTTCA	0.252													3	6	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142480997	142480998	+	RNA	DEL	AT	AT	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr7:142480997_142480998delAT	ENST00000603901.1	+	0	200					NR_001296.3																						TGCCCATGTGATATGACCACAT	0.569													6	5	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139401062	139401062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr9:139401062delA	ENST00000277541.6	-	24	4006	c.3931delT	c.(3931-3933)gcfs	p.C1311fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1311	EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGCCTTTGCAGCCATTGATG	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	8	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													8	169	---	---	---	---					
RP11-1028N23.4	0	broad.mit.edu	37	12	116030327	116030327	+	RNA	DEL	T	T	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr12:116030327delT	ENST00000551940.1	-	0	343																											ctccattttcTTTTTTTTTTT	0.473													2	4	---	---	---	---					
MBTPS1	8720	broad.mit.edu	37	16	84132827	84132828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr16:84132827_84132828insT	ENST00000343411.3	-	3	746_747	c.251_252insA	c.(250-252)atgfs	p.M84fs		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	84					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAATTCTCCAATTGTCTACTTC	0.381													14	196	---	---	---	---					
SIGLEC15	284266	broad.mit.edu	37	18	43417720	43417720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chr18:43417720delA	ENST00000389474.3	+	3	572	c.355delA	c.(355-357)acfs	p.N119fs	SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000602118.2_Intron	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	119	Ig-like V-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCTGCTGGGCAACCCGCGCCG	0.741													2	4	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53655770	53655771	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-A465-01A-11D-A25Y-08	TCGA-CV-A465-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ea64051-624a-41ef-9390-3defc46b3c21	93b1e300-e643-4a9d-9b48-92e3dd3eb0ce	g.chrX:53655770_53655771delAC	ENST00000342160.3	-	13	1503_1504	c.1046_1047delGT	c.(1045-1047)tfs	p.C349fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.C349fs|HUWE1_ENST00000218328.8_Frame_Shift_Del_p.C349fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	349					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGTTCCAGTACAGTCAATAAT	0.391													7	41	---	---	---	---					
