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
ANKRD20A9P	284232	broad.mit.edu	37	13	19419811	19419811	+	RNA	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.chr13:19419811A>T	uc010tcj.1	-	0		c.26299T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AGGTCATGTCATTTGGACTAT	0.249000													2	6					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	uc002hvz.3	-	0	183	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(4)		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
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	uc002lmi.3	+	7	1281	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Silent_p.L361L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	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	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	uc003fty.4	-	10	1507	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	ATP13A3_uc003ftz.1_Missense_Mutation_p.R75C	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	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
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	uc002bjt.1	-	3	2045	c.1957G>C	c.(1957-1959)Ggc>Cgc	p.G653R	BNC1_uc010uos.1_Missense_Mutation_p.G641R	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	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	uc003abp.1	+	5	648	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	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
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	uc001frn.4	+	11	1971	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	KIRREL_uc010pib.2_Missense_Mutation_p.R423C|KIRREL_uc009wsq.3_Missense_Mutation_p.R359C|KIRREL_uc001fro.4_Missense_Mutation_p.R337C	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	523						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	uc002dlo.3	-	5	946	c.749T>C	c.(748-750)cTt>cCt	p.L250P		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	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
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	uc010hia.1	+	3	250	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	CTNNB1_uc003ckq.2_Missense_Mutation_p.D32Y|CTNNB1_uc003ckp.2_Missense_Mutation_p.D32Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32Y|CTNNB1_uc011azf.1_Missense_Mutation_p.D25Y|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	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).		Schwann cell proliferation|T cell differentiation in thymus|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|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 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 T cell proliferation|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|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|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|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(268)|p.D32N(169)|p.A5_A80del(119)|p.D32H(81)|p.D32G(69)|p.D32V(41)|p.D32A(18)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.W25_D32del(9)|p.H24_S47del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.WQQQSYLD25?(5)|p.S23_S33del(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.Y30_S33del(4)|p.V22_S33del(4)|p.A5_Y142>D(4)|p.L31L(4)|p.?(4)|p.L10_N141del(4)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.S29_H36del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.D32E(2)|p.W25_I35del(2)|p.A5_I35del(2)|p.A13_R151del(2)|p.D32del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.W25_S33del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.P16_K133del(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.Y30_T40del(2)|p.A5_Q143>E(2)|p.Q28_D32>H(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.D32fs*9(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S23_I35del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D32_H36del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.H24_L31del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.L31M(1)|p.Q28_I140del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.L31Q(1)|p.L31W(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.Q28fs*20(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(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	0	1	0	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	uc004clr.1	-	10	2001	c.1928T>C	c.(1927-1929)cTg>cCg	p.L643P	ANAPC2_uc004clq.1_Missense_Mutation_p.L499P	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	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
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	uc004awp.1	-	5	1497	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_uc011lup.1_Nonsense_Mutation_p.K274*	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	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
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	uc001kea.3	-	5	2332	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N	MMRN2_uc010qmn.2_Silent_p.N378N|MMRN2_uc009xtb.2_Silent_p.N692N	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	735						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	uc003ihe.4	-	3	3365	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_uc003ihf.4_Missense_Mutation_p.D985V|PCDH18_uc011cgz.2_Missense_Mutation_p.D204V|PCDH18_uc003ihg.4_Missense_Mutation_p.D772V|PCDH18_uc011cha.2_Missense_Mutation_p.D173V	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	993	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D993N(1)		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	uc021pyx.1	-	1	434	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ABLIM1_uc021pyw.1_Missense_Mutation_p.R112Q|ABLIM1_uc021pyy.1_Missense_Mutation_p.R52Q|ABLIM1_uc021pyz.1_Missense_Mutation_p.R46Q|ABLIM1_uc021pza.1_Missense_Mutation_p.R52Q|ABLIM1_uc021pze.1_Missense_Mutation_p.R36Q|ABLIM1_uc021pzf.1_Missense_Mutation_p.R46Q|ABLIM1_uc001lbz.1_Missense_Mutation_p.R35Q	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	112	LIM zinc-binding 1.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.T111S(1)		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	uc002kqw.3	+	3	408	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TUBB6_uc002kqv.3_Missense_Mutation_p.E53K|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	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
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	uc001mem.1	-	10	5354	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	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	uc001fxc.3	-	3	303	c.187G>A	c.(187-189)Ggt>Agt	p.G63S		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	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
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	uc002fxe.3	-	20	3251	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	ZZEF1_uc002fxk.1_Nonsense_Mutation_p.E1064*	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	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	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	uc002tkx.1	+	11	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_uc010yyc.1_Missense_Mutation_p.H333D|ACTR3_uc010yyd.1_Missense_Mutation_p.H344D	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	395					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin 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	uc003efq.4	+	16	5418	c.5359T>G	c.(5359-5361)Tat>Gat	p.Y1787D	PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.Y1504D	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	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	uc004cbq.1	-	14	1907	c.1755_splice	c.e14+1	p.T585_splice	DDX31_uc010mzu.1_Splice_Site_p.T585_splice|DDX31_uc004cbr.1_Splice_Site_p.T585_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	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					0	0	1	0	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	uc002toh.1	-	2	506	c.411C>T	c.(409-411)acC>acT	p.T137T	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Silent_p.T73T|ERCC3_uc002tog.1_Silent_p.T73T|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_Missense_Mutation_p.P90L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	137					DNA topological change|cell cycle checkpoint|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	p.T137I(1)		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	uc001akf.3	+	12	3134	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	PRDM16_uc001ake.3_Missense_Mutation_p.G1018R|PRDM16_uc009vlh.3_Missense_Mutation_p.G718R|PRDM16_uc001akc.3_Missense_Mutation_p.G1017R	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	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
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	uc001hba.3	+	8	952	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Intron|MDM4_uc010pqx.2_Missense_Mutation_p.Q135H|MDM4_uc001hay.2_Intron|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.Q135H|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	262	Asp/Glu-rich (acidic).|Region II.				G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|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
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	uc002qys.3	+	5	826	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	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
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	uc002gfa.3	-	3	472	c.245C>T	c.(244-246)tCa>tTa	p.S82L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Intron|PHF23_uc010cma.3_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	82							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCGAAGATCTGAGGGGGCCGA	0.572000													24	98					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	uc001qut.1	-	9	671	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MFAP5_uc001qus.2_Missense_Mutation_p.R143H|MFAP5_uc009zge.1_Missense_Mutation_p.R128H	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	153						microfibril	extracellular matrix structural constituent	p.R153H(2)|p.R153C(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
FAM86C1	55199	broad.mit.edu	37	8	8090323	8090323	+	RNA	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.chr8:8090323G>A	uc011kwt.2	+	2		c.299G>A			FAM86C1_uc010lrq.2_Non-coding_Transcript|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						TAGACTGTGAGGCATCCTGTG	0.527000													3	37					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	uc004brk.2	+	13	1403	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	STXBP1_uc004brl.2_Silent_p.Y402Y	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	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
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	uc003prs.2	-	4	2128	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	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	uc001oyw.4	-	0	109	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	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					0	0	1	0	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	uc003izs.3	+	5	717	c.526G>T	c.(526-528)Gaa>Taa	p.E176*		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(2)		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					0	0	1	0	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	uc003jfm.4	-	11	1732	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	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
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	uc001aro.3	-	14	3450	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	CASZ1_uc001arp.1_Missense_Mutation_p.T1044P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	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	uc003caj.1	-	21	2474	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_uc003cai.1_Missense_Mutation_p.E623D|ANKRD28_uc011avz.1_Missense_Mutation_p.E623D|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Intron	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	777						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAACTTCCTGTTCTAAAAGCA	0.368000													2	13					0	0	1	0	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	uc001nix.1	-	0	84	c.84G>A	c.(82-84)acG>acA	p.T28T	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	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	uc003ghc.3	+	0	72	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_uc010icw.3_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	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	uc001wyx.4	-	2	1692	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_uc001wyy.2_Missense_Mutation_p.S309R|TRIM9_uc001wyz.4_Missense_Mutation_p.S309R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	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	uc010hjk.1	+	1	318	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	TMIE_uc010hjj.1_Missense_Mutation_p.A94V	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	Homo sapiens transmembrane inner ear (TMIE), mRNA.	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	uc011lxl.2	+	59	5365	c.5365C>T	c.(5365-5367)Cgg>Tgg	p.R1789W	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.R104W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	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	uc003uhx.2	-	5	10508	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_uc003uhv.2_Missense_Mutation_p.E3407K|PCLO_uc010lec.3_Missense_Mutation_p.E372K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3338					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
SPDYE7P	441251	broad.mit.edu	37	7	72338030	72338030	+	RNA	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.chr7:72338030G>A	uc010lal.1	-	0		c.1626C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		acttgaacccgggaggcatcg	0.463000													2	2					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	uc010pii.2	-	0	7	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	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	uc001hku.1	-	50	10532	c.10145T>A	c.(10144-10146)gTt>gAt	p.V3382D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	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
MMP19	4327	broad.mit.edu	37	12	56231626	56231629	+	Splice_Site	DEL	CCCT	-	-			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.chr12:56231626_56231629delCCCT	uc001sib.3	-	7	1181	c.1060_splice	c.e7+1	p.G354_splice	MMP19_uc001sia.3_Splice_Site_p.G68_splice|MMP19_uc001sid.3_Splice_Site|MMP19_uc010spw.2_Splice_Site	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	354	Hemopexin-like 2.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGCCTCCTTACCCTTAAAGAAGTG	0.515													17	79	---	---	---	---					
METTL17	64745	broad.mit.edu	37	14	21464873	21464874	+	Frame_Shift_Ins	INS	-	T	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	uc001vyo.3	+	12	1465_1466	c.1268_1269insT	c.(1267-1269)tatfs	p.Y423fs	METTL17_uc001vym.3_Intron|METTL17_uc001vyn.3_Intron|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	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	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15311619	15311621	+	In_Frame_Del	DEL	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	uc002nan.3	-	0	172_174	c.96_98delGCT	c.(94-99)ctgcta>cta	p.32_33LL>L	NOTCH3_uc002nao.1_In_Frame_Del_p.32_33LL>L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	32					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|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	---	---	---	---					
