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
BAZ1B	9031	broad.mit.edu	37	7	72861634	72861634	+	Silent	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:72861634C>T	uc003tyc.3	-	15	4156	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1268	Poly-Glu.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cctcctcctcctcttcttcct	0.438000													4	109					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99920610	99920610	+	Missense_Mutation	SNP	G	G	A	rs146063801	byFrequency	TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:99920610G>A	uc004egb.3	+	6	1217	c.737G>A	c.(736-738)cGa>cAa	p.R246Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	246	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCCTATGACCGAGCCTACAAC	0.488000													105	194					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537802	37537802	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:37537802C>T	uc004aac.3	-	2	852	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	FBXO10_uc004aab.3_Missense_Mutation_p.V242I|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	242						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TTTTCCAGGACACACAGGGGC	0.498000													27	56					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156288	146156288	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:146156288A>G	uc003zet.3	-	3	2072	c.1885T>C	c.(1885-1887)Tac>Cac	p.Y629H	ZNF16_uc003zeu.3_Missense_Mutation_p.Y629H	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGCATTTGTAGGGGCGCTCG	0.537000													4	150					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132625900	132625900	+	Silent	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr12:132625900C>T	uc001ujy.4	-	7	1209	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	390	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAGGCGGCCGCCACCACCC	0.687000													91	159					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262611	39262611	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr22:39262611G>A	uc003awl.3	-	4	905	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	281					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTGTGGTGTAGGCGAGGGGCA	0.746000													13	11					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339349	102339349	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:102339349T>A	uc004eju.3	-	2	343	c.272A>T	c.(271-273)gAg>gTg	p.E91V	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.E91V|NXF3_uc011mrx.1_Missense_Mutation_p.E2V	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	91						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTCTCTCTCCATGTTAAC	0.478000													111	173					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:12957624C>G	uc003wwm.2	-	8	2666	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000													4	98					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500259	31500259	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr16:31500259G>A	uc002ecf.4	+	10	1358	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	SLC5A2_uc010car.3_Intron|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	447					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GGTGCAGGCGGCACAGGGCGG	0.682000													4	126					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919331	54919331	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr3:54919331G>A	uc003dhf.3	+	21	1984	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D552N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D380N|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	646						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGAACATCCCGATGTGTCCTT	0.483000													50	86					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33338270	33338270	+	Silent	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:33338270C>T	uc002xav.3	-	9	4299	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	NCOA6_uc002xaw.3_Silent_p.P576P|NCOA6_uc021wcd.1_Silent_p.P576P|NCOA6_uc021wce.1_Silent_p.P576P|NCOA6_uc021wcf.1_Silent_p.P576P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	576	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.G575W(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCATATTTGGCGGCCCGTGGG	0.453000													4	135					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539568	56539568	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:56539568G>A	uc002qmj.3	+	6	1969	c.1969G>A	c.(1969-1971)Gtt>Att	p.V657I	NLRP5_uc002qmi.3_Missense_Mutation_p.V638I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	657						mitochondrion|nucleolus	ATP binding	p.V657I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGCTGTCCCGTTCCCCTGGG	0.597000													50	76					0	0	1	0	0
HBXIP	10542	broad.mit.edu	37	1	110950445	110950445	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr1:110950445C>T	uc001dzr.3	-	0	102	c.44G>A	c.(43-45)aGc>aAc	p.S15N		NM_006402	NP_006393	O43504	HBXIP_HUMAN	Homo sapiens hepatitis B virus x interacting protein (HBXIP), mRNA.	15					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		AAGGCTTGGGCTCCCCGCGCG	0.627000													33	41					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49575500	49575500	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:49575500G>A	uc002pmg.3	-	0	699	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	115						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGCTCGGGCGGCACCGGGCAG	0.746000													3	37					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850192	13850192	+	Silent	SNP	T	T	C			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:13850192T>C	uc010gcf.3	-	13	1294	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_uc002woq.4_Silent_p.K265K|SEL1L2_uc010zrl.2_Silent_p.K404K|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	404						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393000													3	111					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5044418	5044418	+	Silent	SNP	T	T	C			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:5044418T>C	uc010mhm.3	+	3	479	c.366T>C	c.(364-366)cgT>cgC	p.R122R	JAK2_uc003ziw.3_Silent_p.R122R	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	122	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACTTTCCTCGTTGGTATTGCA	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				3	138					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187532443	187532443	+	Silent	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr2:187532443G>A	uc002upq.3	+	23	2649	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ITGAV_uc010frs.3_Silent_p.E755E|ITGAV_uc010zfv.2_Silent_p.E745E	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	791					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CAAACTGGGAGCACAAGGAGA	0.418000													4	172					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	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	0.368000	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				37	57					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70598838	70598838	+	Silent	SNP	T	T	C			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:70598838T>C	uc004dzt.4	+	7	1428	c.1377T>C	c.(1375-1377)ccT>ccC	p.P459P	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzu.4_Silent_p.P438P	NM_004606	NP_004597	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 1, mRNA.	438					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity	p.L458V(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCTGGCTTCCTTCTAGCATGA	0.498000													5	287					0	0	1	0	0