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
E2F3	1871	broad.mit.edu	37	6	20486987	20486987	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:20486987G>T	uc003nda.2	+	4	1279	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	E2F3_uc021ymj.1_Missense_Mutation_p.V187L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	318	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGTTATAGTTGTGAAAGCCCC	0.383													3.93E-08	2.45E-03	3.27E-08	0	1	39	11
TACC2	10579	broad.mit.edu	37	10	123842613	123842613	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:123842613A>G	uc001lfv.3	+	3	958	c.598A>G	c.(598-600)Atg>Gtg	p.M200V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M200V|TACC2_uc010qtv.2_Missense_Mutation_p.M200V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	200						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCACCTGGAATGTCGCCAGT	0.582													0	1.05E-02	0	0	0	33	17
CD3D	915	broad.mit.edu	37	11	118209888	118209888	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr11:118209888G>A	uc001pss.1	-	4	642	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CD3D_uc001pst.1_Missense_Mutation_p.R125W|CD3D_uc021qrf.1_Missense_Mutation_p.R96W	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	169					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CACTTGTTCCGAGCCCAGTTT	0.502													0	4.29E-03	0	0	0	112	31
FAM120B	84498	broad.mit.edu	37	6	170628184	170628184	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:170628184C>T	uc003qxp.3	+	1	1814	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	FAM120B_uc003qxo.1_Missense_Mutation_p.T569I|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	569					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V568L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAACAAGTAACCATGGTTTCA	0.388													0	8.29E-03	0	0	0	27	10
FAM208B	54906	broad.mit.edu	37	10	5781833	5781833	+	Missense_Mutation	SNP	A	C	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:5781833A>C	uc001iij.3	+	12	2325	c.1700A>C	c.(1699-1701)gAt>gCt	p.D567A	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	567																	CCACAAAATGATGTTTTGCTC	0.378													0	5.44E-03	0	0	0	43	21
COL4A4	1286	broad.mit.edu	37	2	227875182	227875182	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:227875182C>G	uc021vxr.1	-	44	4470	c.4369G>C	c.(4369-4371)Ggg>Cgg	p.G1457R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1454R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1457	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCCAAACCCTTTGGGCCCA	0.572													0	1.98E-03	0	0	0	21	6
PPP1R35	221908	broad.mit.edu	37	7	100033362	100033362	+	Silent	SNP	G	C	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:100033362G>C	uc003uuy.1	-	2	577	c.480C>G	c.(478-480)ctC>ctG	p.L160L		NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 35 (PPP1R35), mRNA.	160																	GGTCCCGGAAGAGCCGCTTGG	0.721													0	6.02E-04	0	0	0	8	3
AGR2	10551	broad.mit.edu	37	7	16839390	16839390	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:16839390T>C	uc003str.3	-	4	495	c.308A>G	c.(307-309)cAg>cGg	p.Q103R		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	103					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGGACAAACTGCTCTGCCAA	0.308													0	3.08E-03	0	0	0	18	6
PGBD2	267002	broad.mit.edu	37	1	249211207	249211207	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr1:249211207G>T	uc001ifh.3	+	2	571	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.V139L|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	142										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGAGTCCCGTGGGCCTTTT	0.398													2.22E-07	4.99E-03	2.00E-07	0	1	35	13
TTN	7273	broad.mit.edu	37	2	179402314	179402314	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:179402314T>C	uc021vsy.1	-	303	92141	c.91916A>G	c.(91915-91917)tAt>tGt	p.Y30639C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y24334C|TTN_uc021vta.1_Missense_Mutation_p.Y24267C|TTN_uc021vtb.1_Missense_Mutation_p.Y24142C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31566	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTCCATAATATTTCTC	0.458													0	9.10E-03	0	0	0	37	3
C15orf63	25764	broad.mit.edu	37	15	44093364	44093364	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr15:44093364A>G	uc001ztb.3	+	3	842	c.359A>G	c.(358-360)gAg>gGg	p.E120G	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.E74G|C15orf63_uc021skf.1_Intron|C15orf63_uc001ztg.1_Intron	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	74										endometrium(1)|large_intestine(1)|ovary(1)	3						AGGTCCCGGGAGCAGAAAGCC	0.493													0	1.43E-02	0	0	0	83	16
IRX2	153572	broad.mit.edu	37	5	2748624	2748624	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr5:2748624C>A	uc003jda.3	-	2	1440	c.1198G>T	c.(1198-1200)Gcg>Tcg	p.A400S	IRX2_uc003jdb.3_Missense_Mutation_p.A400S	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	400						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCGCCGCGTTCAAGTTC	0.706													7.17E-26	1.44E-02	5.73E-26	0	1	78	40
CACNA1A	773	broad.mit.edu	37	19	13565980	13565980	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr19:13565980C>T	uc002mwy.3	-	1	576	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_uc010xnd.2_Missense_Mutation_p.V114I|CACNA1A_uc021ups.1_Missense_Mutation_p.V114I|CACNA1A_uc010xne.2_Missense_Mutation_p.V114I|CACNA1A_uc010dze.2_Missense_Mutation_p.V114I|CACNA1A_uc021upt.1_Missense_Mutation_p.V114I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	114					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTGCGAGGACGATGCAATTC	0.453													0	1.44E-02	0	0	0	185	64
PITX2	5308	broad.mit.edu	37	4	111539506	111539506	+	Missense_Mutation	SNP	A	T	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:111539506A>T	uc003iaf.3	-	6	2552	c.729T>A	c.(727-729)aaT>aaA	p.N243K	PITX2_uc003iac.3_Missense_Mutation_p.N250K|PITX2_uc003iad.3_Missense_Mutation_p.N243K|PITX2_uc021xqr.1_Missense_Mutation_p.N243K|PITX2_uc003iae.3_Missense_Mutation_p.N197K|PITX2_uc021xqs.1_Missense_Mutation_p.N197K	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	243					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGTTCAAGTTATTCAGGCTGT	0.582													0	6.32E-03	0	0	0	68	28
CDH11	1009	broad.mit.edu	37	16	64984728	64984728	+	Silent	SNP	G	A	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr16:64984728G>A	uc002eoi.3	-	11	2270	c.1836C>T	c.(1834-1836)aaC>aaT	p.N612N	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.N612N|CDH11_uc010vin.2_Silent_p.N486N	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	612	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCAGGCCGGCGTTCAGAATGT	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	1.22E-02	0	0	0	61	27
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	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	1.86E-03	0	0	0	38	12
TNIP2	79155	broad.mit.edu	37	4	2757866	2757866	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:2757866delG	uc003gfg.2	-	0	238	c.151delC	c.(151-153)cgcfs	p.R51fs	TNIP2_uc003gff.2_5'Flank	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	51						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGCCAGGCGGGCGCGGAGG	0.761																		4	2
USP9X	8239	broad.mit.edu	37	X	41043681	41043682	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chrX:41043681_41043682insA	uc004dfb.3	+	22	3944_3945	c.3311_3312insA	c.(3310-3312)gcafs	p.A1104fs	USP9X_uc004dfc.3_Frame_Shift_Ins_p.A1104fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1104					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCTGCTGGTGCACCTCTGGCTG	0.401																		41	20
