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
FAM53C	51307	broad.mit.edu	37	5	137681091	137681091	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr5:137681091C>T	ENST00000513056.1	+	4	337	c.143C>T	c.(142-144)gCc>gTc	p.A48V	FAM53C_ENST00000434981.2_Silent_p.G238G|FAM53C_ENST00000239906.5_Silent_p.G238G|FAM53C_ENST00000507506.1_3'UTR			Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	0										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGTCTGGGCCCGCAGGCAA	0.677000													7	176					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50779287	50779287	+	Silent	SNP	A	A	G			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr19:50779287A>G	ENST00000440075.2	+	28	3554	c.3507A>G	c.(3505-3507)aaA>aaG	p.K1169K	MYH14_ENST00000425460.1_Silent_p.K1136K|MYH14_ENST00000376970.2_Silent_p.K1161K|MYH14_ENST00000262269.8_Silent_p.K1169K|MYH14_ENST00000601313.1_Silent_p.K1169K|MYH14_ENST00000598205.1_Silent_p.K1136K|MYH14_ENST00000596571.1_Silent_p.K1128K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1128					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGCTGAAATCCCTGCGGG	0.662000													17	22					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158749491	158749491	+	Silent	SNP	G	G	A			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr5:158749491G>A	ENST00000231228.2	-	4	848	c.393C>T	c.(391-393)tgC>tgT	p.C131C		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	131					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTGGCCTCGCATCTTAGAA	0.383000													12	20					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41012777	41012777	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr5:41012777C>T	ENST00000399564.4	-	30	3493	c.3043G>A	c.(3043-3045)Ggt>Agt	p.G1015S	MROH2B_ENST00000506092.2_Missense_Mutation_p.G570S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTCTCCAGACCGTCCAGCATT	0.478000													40	58					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124198	151124198	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chrX:151124198G>C	ENST00000370325.1	-	7	972	c.919C>G	c.(919-921)Cca>Gca	p.P307A	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.P307A			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	307					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGGGCTGGAGCAGACTCT	0.537000													5	133					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45928328	45928328	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr7:45928328C>T	ENST00000275525.3	+	1	373	c.77C>T	c.(76-78)gCt>gTt	p.A26V	IGFBP1_ENST00000468955.1_Missense_Mutation_p.A26V|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A26V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	26	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						ACAGCCGGCGCTCCGTGGCAG	0.716000													14	19					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046475	76046475	+	Silent	SNP	G	G	A			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr17:76046475G>A	ENST00000335749.4	+	3	1901	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	TNRC6C_ENST00000544502.1_Silent_p.L444L|TNRC6C_ENST00000588847.1_Silent_p.L444L|TNRC6C_ENST00000301624.4_Silent_p.L444L|TNRC6C_ENST00000588061.1_Silent_p.L444L|TNRC6C_ENST00000541771.1_Silent_p.L444L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	444	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAAGAGTTCTGTCTAATACTG	0.488000													40	70					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582000													7	882					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403405	124403405	+	Silent	SNP	G	G	A			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr12:124403405G>A	ENST00000409039.3	+	64	11086	c.11061G>A	c.(11059-11061)ctG>ctA	p.L3687L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3687					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTGTCACTGAAGAAGTCGC	0.537000													24	18					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360869	10360869	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr17:10360869C>T	ENST00000255381.2	-	16	1875	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	589	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTAGTCCACGGTGCCGGCA	0.527000													4	102					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768964	121768964	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr6:121768964G>A	ENST00000282561.3	+	2	1128	c.971G>A	c.(970-972)gGa>gAa	p.G324E		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	324					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGGCAGGCGGGAAGCACCATC	0.458000													52	67					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118817130	118817130	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr8:118817130T>A	ENST00000378204.2	-	10	2692	c.1886A>T	c.(1885-1887)tAt>tTt	p.Y629F		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	629					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTAGTGATAATATCTGTAAAA	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				21	53					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173456996	173456996	+	Missense_Mutation	SNP	G	G	T	rs1804052	byFrequency	TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr1:173456996G>T	ENST00000340385.5	+	5	801	c.669G>T	c.(667-669)caG>caT	p.Q223H	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	223					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ACACACCCCAGCCTTAAGTCT	0.483000													31	28					7.11191e-15	7.11191e-15	1	1	0
PC	5091	broad.mit.edu	37	11	66638546	66638546	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr11:66638546T>C	ENST00000393960.1	-	7	891	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	PC_ENST00000355677.3_Missense_Mutation_p.M204V|PC_ENST00000393955.2_Missense_Mutation_p.M204V|PC_ENST00000524491.1_Missense_Mutation_p.M164V|PC_ENST00000393958.2_Missense_Mutation_p.M204V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	204	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACCACCCTCATGCCACGCCCT	0.652000													28	47					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10561524	10561524	+	Silent	SNP	G	G	A			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr19:10561524G>A	ENST00000380702.2	+	7	624	c.624G>A	c.(622-624)ttG>ttA	p.L208L	PDE4A_ENST00000440014.2_Silent_p.L169L|PDE4A_ENST00000293683.5_Silent_p.L204L|PDE4A_ENST00000592685.1_Silent_p.L208L|PDE4A_ENST00000352831.6_Silent_p.L230L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	230					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTCAGCAGTTGGCCCGGGAGA	0.602000													5	10					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				22	29					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													7	27	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(40-45)cctgct>ccCTGtgct	p.14_15PA>PCA	PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	14					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													7	5	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr2:97505817delG	ENST00000318357.4	-	7	681	c.640delC	c.(640-642)tgfs	p.L214fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	214						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637													3	4	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-EL-A3ZL-01A-11D-A23M-08	TCGA-EL-A3ZL-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c1ffd6e-4a42-43c5-9e67-04aeab98c23e	136ac5a7-aff2-490d-85db-c40289aba059	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													3	3	---	---	---	---					
