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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
DCLRE1B	64858	broad.mit.edu	37	1	114454228	114454228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:114454228G>A	uc001eeg.3	+	3	1308	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W212*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W212*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	338					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTCTCTGGCTGTTAGAAA	0.498								Other identified genes with known or suspected DNA repair function					0	1	0	0	0	45	20
TGFB2	7042	broad.mit.edu	37	1	218610805	218610805	+	Silent	SNP	G	C	C	rs142741166	by1000genomes	TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:218610805G>C	uc001hlm.3	+	5	2421	c.1053G>C	c.(1051-1053)ccG>ccC	p.P351P	TGFB2_uc001hln.3_Silent_p.P379P|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	351					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GAGCATGCCCGTATTTATGGA	0.483													0	1	0	0	0	31	4
ERAP2	64167	broad.mit.edu	37	5	96215823	96215823	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr5:96215823A>G	uc003kmq.3	+	1	1144	c.434A>G	c.(433-435)cAt>cGt	p.H145R	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.H145R|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.H139R|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	145					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TACCCTGCTCATGAACAAATT	0.433													0	1	0	0	0	23	9
ZNF549	256051	broad.mit.edu	37	19	58049389	58049389	+	Silent	SNP	A	G	G			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:58049389A>G	uc002qpb.2	+	3	1266	c.1017A>G	c.(1015-1017)aaA>aaG	p.K339K	ZNF549_uc002qpa.2_Silent_p.K326K	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGTGGGAAATCATTCCGCC	0.428													0	1	0	0	0	45	21
PREX1	57580	broad.mit.edu	37	20	47256389	47256389	+	Silent	SNP	C	T	T			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr20:47256389C>T	uc002xtw.1	-	29	3842	c.3819G>A	c.(3817-3819)ctG>ctA	p.L1273L	PREX1_uc002xtv.1_Silent_p.L570L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1273					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TAATCTGGATCAGGCTCCGGC	0.552													0	1	0	0	0	105	6
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				0	1	0	0	0	42	19
SORCS3	22986	broad.mit.edu	37	10	106976772	106976772	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:106976772G>A	uc001kyi.1	+	18	2853	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	876	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGCCCCATCGAGGACGGCAT	0.527													0	1	0	0	0	29	11
LRRTM3	347731	broad.mit.edu	37	10	68687364	68687364	+	Silent	SNP	C	T	T			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:68687364C>T	uc001jmz.1	+	1	1240	c.690C>T	c.(688-690)agC>agT	p.S230S	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.S230S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	230						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGTTGGTCAGCCTTCAGAACC	0.458													0	1	0	0	0	52	28
CLIC2	1193	broad.mit.edu	37	X	154508527	154508527	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chrX:154508527C>A	uc004fnf.3	-	4	743	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CLIC2_uc010nvj.1_Nonsense_Mutation_p.E183*	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	165	C-terminal.|Foot loop.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGGGGGTTCCTCAGCACTG	0.423													8.83E-07	1	8.34E-07	0	1	42	21
KRTAP5-6	440023	broad.mit.edu	37	11	1718519	1718519	+	Missense_Mutation	SNP	G	C	C			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr11:1718519G>C	uc001lua.3	+	0	95	c.44G>C	c.(43-45)gGg>gCg	p.G15A	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	15						keratin filament		p.G15G(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCGGCTGTGGGGGCTGTGGC	0.652													0	1	0	0	0	99	40
AKT2	208	broad.mit.edu	37	19	40762959	40762959	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:40762959C>T	uc002onf.3	-	2	348	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT2_uc010egs.3_Missense_Mutation_p.E17K|AKT2_uc010xvj.2_5'UTR|AKT2_uc010egt.3_5'UTR|AKT2_uc010egu.2_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.E17K	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	17	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E17K(2)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTGATGTATTCACCTGAAATG	0.577			A		"""ovarian, pancreatic """								0	1	0	0	0	39	12
WRAP53	55135	broad.mit.edu	37	17	7592188	7592188	+	Silent	SNP	T	C	C			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr17:7592188T>C	uc010vuh.2	+	1	377	c.222T>C	c.(220-222)tcT>tcC	p.S74S	WRAP53_uc010vui.2_Silent_p.S74S|WRAP53_uc002gip.3_Silent_p.S74S|WRAP53_uc002gir.3_Silent_p.S74S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S74S|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	74					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACCCAGTTTCTCTCTCCACTC	0.582													0	1	0	0	0	59	29
NCAM2	4685	broad.mit.edu	37	21	22849723	22849723	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr21:22849723delA	uc002yld.2	+	14	2257	c.2008delA	c.(2008-2010)aatfs	p.N670fs	NCAM2_uc011acb.2_Frame_Shift_Del_p.N528fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	670	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGCTGCCAATAGATTGGG	0.388																		31	14
