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
GBP2	2634	broad.mit.edu	37	1	89587611	89587611	+	Silent	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:89587611G>C	ENST00000370466.3	-	2	307	c.39C>G	c.(37-39)ctC>ctG	p.L13L		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	13					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.L13L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGTTATCAATGAGGCTCATTG	0.498													5	252	---	---	---	---
GSTM5	2949	broad.mit.edu	37	1	110256100	110256100	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:110256100A>G	ENST00000369813.1	+	2	954	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Missense_Mutation_p.I77V			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	59	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.?(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTTCCCATCTATCCAGCTGCC	0.592													84	186	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449745	155449745	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:155449745C>A	ENST00000368346.3	-	3	3555	c.2916G>T	c.(2914-2916)aaG>aaT	p.K972N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	972					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K972N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343													4	240	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158612201	158612201	+	Splice_Site	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:158612201C>T	ENST00000368147.4	-	33	4917	c.4737G>A	c.(4735-4737)aaG>aaA	p.K1579K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.K1579K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTTACCTTCATGGCCT	0.393													9	269	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172501831	172501831	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:172501831C>T	ENST00000367723.4	+	1	343	c.219C>T	c.(217-219)aaC>aaT	p.N73N	SUCO_ENST00000608151.1_Silent_p.N73N	NM_016227.2	NP_057311.3			SUN domain containing ossification factor									p.N73N(1)									ACTTCTCTAACAAAACCATGG	0.498													6	78	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345029	235345029	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:235345029T>C	ENST00000264183.3	-	20	3702	c.3205A>G	c.(3205-3207)Att>Gtt	p.I1069V	ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.I1069V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCACCTCAATTGTGCTATCA	0.493													32	54	---	---	---	---
SRSF7	6432	broad.mit.edu	37	2	38976716	38976716	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:38976716T>A	ENST00000313117.6	-	3	578	c.341A>T	c.(340-342)cAt>cTt	p.H114L	SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L|SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	114					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	p.H114L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATAAGCATAATGTCCCTTTTC	0.413													27	279	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56603059	56603059	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:56603059C>A	ENST00000407595.2	+	5	2063	c.1561C>A	c.(1561-1563)Cat>Aat	p.H521N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	521								p.H521N(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGTGGTACATTCTCTTAA	0.498													32	60	---	---	---	---
CCDC115	84317	broad.mit.edu	37	2	131096732	131096732	+	Silent	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:131096732G>C	ENST00000259229.2	-	5	727	c.504C>G	c.(502-504)ctC>ctG	p.L168L	CCDC115_ENST00000409127.1_Silent_p.L163L|CCDC115_ENST00000437688.2_3'UTR	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	168						endosome|lysosome		p.L168L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GTTTCTCTTGGAGTCCCCGGA	0.612													7	62	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171862701	171862701	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:171862701A>G	ENST00000442919.2	-	18	2331	c.1716T>C	c.(1714-1716)ggT>ggC	p.G572G	TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000434911.2_Silent_p.G524G|TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000431350.2_Silent_p.G620G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	620	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G572G(2)|p.G620G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCATCTACACCATAGCTAT	0.398													15	213	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9870957	9870957	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:9870957C>A	ENST00000383827.1	+	4	3077	c.796C>A	c.(796-798)Ccc>Acc	p.P266T	TTLL3_ENST00000547186.1_Missense_Mutation_p.P478T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000466245.1_3'UTR			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	478	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.P478T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACGATGGCACCCTCCACAGC	0.622													59	91	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (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.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(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)	CACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	105	---	---	---	---
ZKSCAN7	55888	broad.mit.edu	37	3	44612332	44612332	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:44612332A>G	ENST00000273320.3	+	6	2159	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K577R|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7									p.K577R(1)									ACTGGGGAAAAGCCATACAAA	0.433													3	254	---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45761023	45761023	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:45761023A>G	ENST00000389061.5	+	8	813	c.609A>G	c.(607-609)ggA>ggG	p.G203G	SACM1L_ENST00000418611.1_Silent_p.G100G|SACM1L_ENST00000541314.1_Silent_p.G142G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	203	SAC.					Golgi apparatus		p.G203G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTATTAATGGAAAATACTTTG	0.338													6	77	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113508598	113508598	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:113508598G>T	ENST00000273398.3	+	8	1007	c.899G>T	c.(898-900)gGt>gTt	p.G300V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	300					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.G300V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGATGGTAAGGTAGAG	0.353													51	103	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130159274	130159274	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:130159274A>T	ENST00000265379.6	+	35	6586	c.6092A>T	c.(6091-6093)gAt>gTt	p.D2031V	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2031V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2031	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.D70V(1)|p.D2031V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAGAGTTTGATTTCATCACT	0.423													45	100	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176755961	176755961	+	Splice_Site	SNP	C	C	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:176755961C>G	ENST00000430069.1	-	12	1307		c.e12-1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.?(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTACTTCATTCTAAAAATAAT	0.323													4	57	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910384	184910384	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:184910384G>A	ENST00000231887.3	-	7	1877	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	601						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.S601L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCTATACCGTGATAGGAATTT	0.428													34	227	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144133502	144133502	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:144133502A>G	ENST00000307017.4	+	8	2035	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	USP38_ENST00000510377.1_Missense_Mutation_p.E510G	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	510					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E510G(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATATTCTTTGAGGCTTCCAGA	0.383													3	232	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629679	9629679	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:9629679G>A	ENST00000382492.2	-	1	784	c.466C>T	c.(466-468)Cta>Tta	p.L156L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	156					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L156L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AATTTCCTTAGGAAGTATGGG	0.393													8	151	---	---	---	---
LINC00518	221718	broad.mit.edu	37	6	10430364	10430364	+	RNA	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:10430364T>C	ENST00000496285.1	-	0	671					NR_027793.1													p.S42G(1)									atttggtcactctCATTGAGG	0.443													3	178	---	---	---	---
CROT	54677	broad.mit.edu	37	7	86990868	86990868	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:86990868T>A	ENST00000331536.3	+	5	588	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	CROT_ENST00000419147.2_Missense_Mutation_p.Y163N|CROT_ENST00000442291.1_Missense_Mutation_p.Y135N	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	135					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.Y135N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAACTTGAACTACTGGCAGCT	0.398													6	178	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87082328	87082328	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:87082328A>G	ENST00000265723.4	-	6	579	c.468T>C	c.(466-468)gcT>gcC	p.A156A	ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A|ABCB4_ENST00000359206.3_Silent_p.A156A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	156	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A156A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTCGTAGAATAGCATGAAAAA	0.413													3	189	---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151814291	151814291	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151814291A>G	ENST00000434507.1	+	11	1720	c.1283A>G	c.(1282-1284)aAt>aGt	p.N428S	GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	428						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N428S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGCTATGGCAATATCAGTGAG	0.348													104	238	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151845758	151845758	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151845758C>A	ENST00000355193.2	-	53	13643	c.13425G>T	c.(13423-13425)agG>agT	p.R4475S	KMT2C_ENST00000262189.6_Missense_Mutation_p.R4418S					lysine (K)-specific methyltransferase 2C									p.R4418S(1)|p.R4475S(1)									GGTTGAGTAGCCTTGCTGGTC	0.488													5	172	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77448983	77448983	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:77448983T>G	ENST00000451710.3	-	6	837	c.600A>C	c.(598-600)agA>agC	p.R200S	TRPM6_ENST00000360774.1_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S|TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	200					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R200S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGATTTTTCTCAAGGAAT	0.403													12	186	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17032435	17032435	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:17032435C>T	ENST00000377833.4	-	29	4313	c.4248G>A	c.(4246-4248)gaG>gaA	p.E1416E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1416	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1416E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAGATACACTCCTTGTTTG	0.517													13	147	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97916435	97916435	+	RNA	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:97916435T>G	ENST00000534948.1	+	0	1213							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F119C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATACTCAATTTCAGCTGTTTA	0.388													13	277	---	---	---	---
DAK	26007	broad.mit.edu	37	11	61111398	61111398	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:61111398G>A	ENST00000394900.3	+	12	1282	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	351					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.R351R(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCGGAGCCGGGTAGCCCCTG	0.602													6	85	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92568131	92568131	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:92568131G>A	ENST00000298047.6	+	14	9984	c.9967G>A	c.(9967-9969)Gct>Act	p.A3323T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3323	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A3323T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCTCAGCGCTGTGGCCAC	0.498										TCGA Ovarian(4;0.039)			17	17	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82792603	82792603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:82792603C>A	ENST00000248306.3	+	4	630	c.561C>A	c.(559-561)taC>taA	p.Y187*	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25									p.Y187*(1)									GTAAAGGCTACCTAAGCTCTT	0.318													6	103	---	---	---	---
LHX5	64211	broad.mit.edu	37	12	113909233	113909233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:113909233G>A	ENST00000261731.3	-	1	644	c.71C>T	c.(70-72)gCg>gTg	p.A24V		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	24	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A24V(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GATGTGCCACGCGCGGTCCAG	0.612													3	16	---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125348169	125348169	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:125348169G>C	ENST00000339570.5	-	1	294	c.98C>G	c.(97-99)cCg>cGg	p.P33R	SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000415380.2_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	33					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.P33R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GATGAGCGACGGCACCATCAC	0.716													3	15	---	---	---	---
USP12	219333	broad.mit.edu	37	13	27649444	27649444	+	Silent	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:27649444T>A	ENST00000282344.6	-	7	1072	c.816A>T	c.(814-816)acA>acT	p.T272T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	272					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T272T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGAGAGTTTTGTATATCGAT	0.358													42	61	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60591549	60591549	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:60591549A>G	ENST00000406854.1	+	9	3214	c.2660A>G	c.(2659-2661)gAc>gGc	p.D887G	PCNXL4_ENST00000404681.2_Missense_Mutation_p.D887G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D653G|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D94G					pecanex-like 4 (Drosophila)									p.D653G(1)|p.D887G(1)									CCTGCTGTTGACAAAGGAAAA	0.438													13	384	---	---	---	---
VIPAS39	63894	broad.mit.edu	37	14	77896064	77896064	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:77896064C>T	ENST00000553888.1	-	17	1736	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R435Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog									p.R409Q(1)									TTCGACAACCCGATGGAAGCC	0.502													25	414	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30025006	30025006	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30025006C>A	ENST00000346128.6	-	14	2224	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S|TJP1_ENST00000356107.6_Missense_Mutation_p.A584S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	584	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.A584S(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTACACTGGCTAGCTGCTCA	0.403													40	45	---	---	---	---
ARHGAP11B	89839	broad.mit.edu	37	15	30925726	30925726	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30925726A>C	ENST00000428041.2	+	3	379	c.234A>C	c.(232-234)gaA>gaC	p.E78D		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	78	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E78D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTTTAGAAGAACATATTCATA	0.373													4	186	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12358924	12358924	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr18:12358924C>A	ENST00000269143.3	-	8	1002	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	257					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.M257I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCGTAGGCAGCATGCTCAGCA	0.552													3	33	---	---	---	---
MED16	10025	broad.mit.edu	37	19	881676	881676	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:881676G>T	ENST00000312090.6	-	7	1174	c.1024C>A	c.(1024-1026)Cta>Ata	p.L342I	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.L342I|MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000269814.4_Missense_Mutation_p.L342I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	342					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.L342I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCGATAGGATCCGCCAT	0.577													4	136	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38976722	38976722	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:38976722C>A	ENST00000355481.4	+	34	5558	c.5427C>A	c.(5425-5427)gaC>gaA	p.D1809E	RYR1_ENST00000360985.3_Missense_Mutation_p.D1809E|RYR1_ENST00000359596.3_Missense_Mutation_p.D1809E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1809	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D1809E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGCGGGACAAGGCACTGA	0.711													43	57	---	---	---	---
A1BG	1	broad.mit.edu	37	19	58863782	58863782	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:58863782C>T	ENST00000263100.3	-	4	541	c.480G>A	c.(478-480)gaG>gaA	p.E160E	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	160	Ig-like V-type 2.					extracellular region		p.E160E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTCAGGCACCTCCAGAAACT	0.627													12	207	---	---	---	---
PHF20	51230	broad.mit.edu	37	20	34389529	34389529	+	Splice_Site	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:34389529T>G	ENST00000374012.3	+	2	212		c.e2+2		PHF20_ENST00000481202.1_Splice_Site|PHF20_ENST00000439301.1_Splice_Site			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.?(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAAAAACTGGTACTTTTACAT	0.413													4	74	---	---	---	---
OSER1	51526	broad.mit.edu	37	20	42826279	42826279	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:42826279T>C	ENST00000372970.2	-	6	472	c.292A>G	c.(292-294)Ata>Gta	p.I98V	OSER1_ENST00000255174.2_Missense_Mutation_p.I98V					oxidative stress responsive serine-rich 1									p.I98V(1)									GAAGACGCTATTGTACTGCAA	0.488													21	159	---	---	---	---
APOBEC3D	140564	broad.mit.edu	37	22	39421246	39421246	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr22:39421246C>T	ENST00000216099.8	+	3	789	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	APOBEC3D_ENST00000381568.4_Silent_p.L128L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.L128L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAATGTCACCCTGACCATCTC	0.572													7	103	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151853293	151853293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151853293delC	ENST00000355193.2	-	46	12198	c.11980delG	c.(11980-11982)gaafs	p.E3994fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.E3937fs					lysine (K)-specific methyltransferase 2C																		ATCATACCTTCATGGCTCACT	0.438													22	271	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151859486	151859487	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151859486_151859487insTT	ENST00000355193.2	-	43	11393_11394	c.11175_11176insAA	c.(11173-11178)acagagfs	p.E3726fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.E3726fs					lysine (K)-specific methyltransferase 2C																		GGGCAGGACTCTGTCTCAGCCT	0.480													196	453	---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120850633	120850638	+	In_Frame_Del	DEL	CACCAG	CACCAG	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:120850633_120850638delCACCAG	ENST00000313655.4	-	8	1148_1153	c.934_939delCTGGTG	c.(934-939)ctggtgdel	p.LV312del		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	312					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGTCTATCCACCAGCGCTAAACCC	0.364													47	170	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145151373	145151373	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:145151373delA	ENST00000318911.4	+	4	660	c.587delA	c.(586-588)gacfs	p.D196fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	196	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGCCCCCTGACCTCAGCTAC	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	145	---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114489999	114490000	+	Frame_Shift_Ins	INS	-	-	CCAAA			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:114489999_114490000insCCAAA	ENST00000394779.3	-	9	1682_1683	c.1438_1439insTTTGG	c.(1438-1440)gacfs	p.D480fs	C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.D519fs|C9orf84_ENST00000318737.4_Frame_Shift_Ins_p.D519fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	519										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTCAAAAGGTCCAAATCATTC	0.332													22	326	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12870803	12870803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:12870803delC	ENST00000228872.4	+	1	746	c.30delC	c.(28-30)agcfs	p.S10fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	10					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTAACGGGAGCCCTAGCCTGG	0.607													10	77	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246234	46246241	+	Frame_Shift_Del	DEL	GTGGTACT	GTGGTACT	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:46246234_46246241delGTGGTACT	ENST00000334344.6	+	15	4500_4507	c.4328_4335delGTGGTACT	c.(4327-4335)agtggtactfs	p.SGT1443fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1443					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAATTTAGTGGTACTGATTTGCTTA	0.418			"""N, S, F"""		hepatocellular carcinoma								67	315	---	---	---	---
