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
GREB1	9687	broad.mit.edu	37	2	11750979	11750979	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:11750979C>T	ENST00000381486.2	+	18	3132	c.2832C>T	c.(2830-2832)tgC>tgT	p.C944C	GREB1_ENST00000234142.5_Silent_p.C944C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	944						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGTGCCCCTGCGGCCACGGGC	0.687000													3	55					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													6	58					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74592173	74592173	+	Silent	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:74592173C>A	ENST00000253159.8	+	8	1281	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	ZNF236_ENST00000320610.9_Silent_p.L363L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	361					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCAGCAGCTCCTGGAGCTCT	0.627000													8	26					0.00307968	0.00326633	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													4	63					0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204513776	204513776	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:204513776A>C	ENST00000367182.3	+	9	948	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_ENST00000454264.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	262	Asp/Glu-rich (acidic).|Region II.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATACTGAACAAACAAGTGAAG	0.363000			A		"""GBM, bladder, retinoblastoma"""								15	31					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932046	83932046	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:83932046C>G	ENST00000345382.2	-	4	2042	c.1957G>C	c.(1957-1959)Ggc>Cgc	p.G653R	BNC1_ENST00000569704.1_Missense_Mutation_p.G646R|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTCATGGCCACCATCCTCG	0.557000													17	54					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627721	25627721	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:25627721C>T	ENST00000398215.2	+	6	771	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	200	C-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AACGTGGTGCCTTCCACCCCT	0.622000													17	50					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567000													3	113					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158063224	158063224	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158063224C>T	ENST00000368172.1	+	8	1021	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	KIRREL_ENST00000359209.6_Missense_Mutation_p.R523C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523	Ig-like C2-type 4.					integral to membrane		p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602000													20	51					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23444927	23444927	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:23444927A>G	ENST00000307149.5	-	6	934	c.749T>C	c.(748-750)cTt>cCt	p.L250P		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	250					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGTCCGGTAAGCTGCCGGTC	0.507000													9	43					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611561	17611561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr8:17611561G>A	ENST00000381869.3	-	2	2229	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	586						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGCACAGCCTGGCTAGTAATG	0.398000													8	118					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	T	rs28931588		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:41266097G>T	ENST00000349496.5	+	3	374	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478000	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	28					0.184627	0.187303	1	1	0
ANAPC2	29882	broad.mit.edu	37	9	140070252	140070252	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:140070252A>G	ENST00000323927.2	-	11	1932	c.1928T>C	c.(1927-1929)cTg>cCg	p.L643P	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	643					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATGGTCACCAGGCCCAGGGT	0.662000													2	11					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702336	88702336	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:88702336G>A	ENST00000372027.5	-	6	2526	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGAAGAGTGCGTTGTGGAGGC	0.657000													3	33					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442613	138442613	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:138442613T>A	ENST00000344876.4	-	4	3364	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	993	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGTGTCCTCATCGTTTGGGGA	0.512000													17	48					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116361630	116361630	+	Missense_Mutation	SNP	C	C	T	rs145417841	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:116361630C>T	ENST00000533213.2	-	2	456	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R52Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R112Q			O14639	ABLM1_HUMAN	actin binding LIM protein 1	112					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGTCTGGACCCGAAGCACTTC	0.547000													6	86					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325161	12325161	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:12325161G>A	ENST00000317702.5	+	4	607	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GAAGGAGTGCGAGCACTGCGA	0.672000													24	71					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	4					0.004672	0.00480941	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6650985	6650985	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:6650985C>T	ENST00000299441.3	-	11	5364	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1651	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACTCCTGCTGCTGGAAAG	0.657000													18	20					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851965	160851965	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:160851965C>T	ENST00000326245.3	-	4	302	c.187G>A	c.(187-189)Ggt>Agt	p.G63S		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	63	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGATAACACCATTCTCAGTG	0.557000													17	40					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684800	46684800	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:46684800G>A	ENST00000274793.7	-	3	339	c.143C>T	c.(142-144)gCt>gTt	p.A48V	PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000541026.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	48					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAAGCTTGCAGCAGCCATCAG	0.368000													3	92					0	0	1	0	0
RP11-556N21.1	0	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388000													3	33					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:22012551G>A	ENST00000261200.4	-	20	2473	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	825	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATACAGCGCTCGTGCCAC	0.403000													3	80					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930736	144930736	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:144930736C>T	ENST00000529945.1	-	1	1412	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTAGGGCCAGGCTTGGCT	0.498000			T	PDGFRB	MPD								7	103					0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114714958	114714958	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:114714958C>G	ENST00000263238.2	+	12	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	395					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CCAAGTATGCCACACCAAAAA	0.338000													6	47					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122447397	122447397	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:122447397T>G	ENST00000474629.2	+	17	5625	c.5359T>G	c.(5359-5361)Tat>Gat	p.Y1787D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1787	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGGCATTTTATGACTACCA	0.363000													28	77					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135517391	135517391	+	Splice_Site	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:135517391C>A	ENST00000372159.3	-	14	1906	c.1755G>T	c.(1753-1755)acG>acT	p.T585T	DDX31_ENST00000310532.2_Splice_Site_p.T585T|DDX31_ENST00000372153.1_Splice_Site_p.T585T|DDX31_ENST00000438527.3_Splice_Site_p.T456T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	585	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGATACGTACCGTGCAAAGAA	0.438000													6	26					3.59834e-05	3.93568e-05	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128050246	128050246	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:128050246G>A	ENST00000493187.2	-	3	682	c.219C>T	c.(217-219)acC>acT	p.T73T	ERCC3_ENST00000285398.2_Silent_p.T137T			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	137					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGAGGTACTCGGTGATGTCAC	0.517000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	42					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342257	3342257	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:3342257G>A	ENST00000378398.3	+	14	3134	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1018R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1018	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGCTGCTTCGGGCAGCAGAC	0.642000			T	EVI1	"""MDS, AML"""								15	65					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194169231	194169231	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:194169231G>A	ENST00000439040.1	-	12	1896	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	369					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGTAGAAACGAGTCTGAATA	0.348000													12	86					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48628922	48628922	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:48628922G>A	ENST00000328333.8	-	12	1718	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	COL7A1_ENST00000454817.1_Silent_p.Y537Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	537	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATGATGCGGTACTGGGTGG	0.652000													3	94					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7160686	7160686	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:7160686G>A	ENST00000320892.6	+	6	826	c.384G>A	c.(382-384)caG>caA	p.Q128Q	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	128						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGGCTGCAGACCCCCCAGC	0.627000													14	70					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	31					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													3	122					0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7140001	7140001	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:7140001G>A	ENST00000320316.3	-	4	471	c.245C>T	c.(244-246)tCa>tTa	p.S82L	PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	82							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCGAAGATCTGAGGGGGCCGA	0.572000													24	98					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													3	69					0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8800751	8800751	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:8800751C>T	ENST00000359478.2	-	10	645	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153						microfibril	extracellular matrix structural constituent	p.R153H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTAATTGGAGCGACGGAGTCT	0.463000													7	22					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581089	99581089	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:99581089T>A	ENST00000481138.1	-	6	1877	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AGGCGTGACTTCTCACTGAAG	0.443000													4	81					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134709032	134709032	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:134709032G>A	ENST00000370752.4	+	13	1988	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	552										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCAGTTGCACAAATGGG	0.413000													3	58					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130438178	130438178	+	Silent	SNP	T	T	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:130438178T>C	ENST00000373302.3	+	14	1345	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	402					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAGCACTTATGACAAAATCC	0.512000													3	28					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	4					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672000													5	77					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390917	107390917	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:107390917G>A	ENST00000429433.2	-	5	2127	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	BEND3_ENST00000369042.1_Missense_Mutation_p.P493L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	493										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATCACGCGGGGGGTCGCCTTC	0.682000													12	18					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77734212	77734212	+	Silent	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:77734212C>A	ENST00000353172.5	-	1	128	c.84G>T	c.(82-84)cgG>cgT	p.R28R	KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	28						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TTACCGTTGGCCGCCTGGGCC	0.692000													5	54					1.6384e-10	1.84981e-10	1	1	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000													3	38					4.096e-09	4.55111e-09	1	1	0
ANKH	56172	broad.mit.edu	37	5	14711384	14711384	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr5:14711384C>T	ENST00000284268.6	-	12	1731	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ANKH_ENST00000535119.1_Silent_p.G269G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	467					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTCTTCCCCCTCCGTGG	0.542000													44	133					0	0	1	0	0
RP11-556N21.1	0	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363000													3	35					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10709155	10709155	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:10709155T>G	ENST00000377022.3	-	15	3447	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCGTCCAAGGTGCTGAAGAGC	0.622000													4	29					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15721039	15721039	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:15721039T>G	ENST00000399451.2	-	22	2698	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	777						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAACTTCCTGTTCTAAAAGCA	0.368000													2	13					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3979978	3979978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:3979978C>A	ENST00000381638.2	-	21	3311	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1063							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCAGGAGTTCTGTGAGGACG	0.532000													9	16					0.000274275	0.000295373	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258763	56258763	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:56258763C>T	ENST00000327216.2	-	1	108	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGAAACAGCGTGAAGAGGA	0.507000													36	91					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716000													2	12					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51489667	51489667	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:51489667A>C	ENST00000298355.3	-	3	2048	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	309					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAAACTCCACACTGTTCTCCT	0.552000													11	42					0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46747349	46747349	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:46747349C>T	ENST00000326431.3	+	2	318	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	55						integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTGGGACATGCGCCTGTGGCA	0.607000											OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	91					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117071687	117071687	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:117071687C>T	ENST00000356083.3	+	60	5756	c.5365C>T	c.(5365-5367)Cgg>Tgg	p.R1789W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1789	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGTACGCTTCCGGGCCTGGAA	0.607000													19	83					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579685	82579685	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr7:82579685C>T	ENST00000333891.9	-	6	10556	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3407K|PCLO_ENST00000437081.1_Missense_Mutation_p.E127K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGTTTTTCCTCTTTCACA	0.418000													9	47					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869832	151869832	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE.						protein binding	p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532000													3	60					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390650	158390650	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158390650G>A	ENST00000314902.2	-	1	6	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCATTGACCCGCTCCATGGAG	0.478000													3	34					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215963438	215963438	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:215963438A>T	ENST00000366943.2	-	51	10531	c.10145T>A	c.(10144-10146)gTt>gAt	p.V3382D	USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3382					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGAGCAAACATATTTCAA	0.378000										HNSCC(13;0.011)			13	47					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464873	21464874	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:21464873_21464874insT	ENST00000382985.4	+	13	1291_1292	c.1268_1269insT	c.(1267-1272)tatgggfs	p.G424fs	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000339374.6_Intron|METTL17_ENST00000556670.2_Intron			Q9H7H0	MET17_HUMAN	methyltransferase like 17	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CACGGCAGGTATGGGGGGTGTG	0.589													9	147	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													3	5	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	4	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15311619	15311621	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:15311619_15311621delAGC	ENST00000263388.2	-	1	171_173	c.96_98delGCT	c.(94-99)ctgcta>cta	p.32_33LL>L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	32					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)			CGGCCCCGCTAGCAGCAGCAGCA	0.808													2	4	---	---	---	---					
