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
RTN3	10313	broad.mit.edu	37	11	63487681	63487681	+	Silent	SNP	T	T	C			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr11:63487681T>C	ENST00000377819.5	+	3	1861	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.P457P|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	569					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGATCAGCCTGATATTCTTG	0.413000													3	47					0	0	0.004672	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	113					0	0	0.001168	0	0
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GTTGTTTATGCCGTATCCAAG	0.328000													3	49					0	0	0.000248	0	0
TRERF1	55809	broad.mit.edu	37	6	42236552	42236552	+	Silent	SNP	C	C	T			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr6:42236552C>T	ENST00000541110.1	-	5	1345	c.777G>A	c.(775-777)caG>caA	p.Q259Q	TRERF1_ENST00000372922.4_Silent_p.Q259Q|TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	259	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGCATGTGCTGTGACAGCA	0.582000													3	52					0	0	0.004672	0	0
LINC00969	0	broad.mit.edu	37	3	195410640	195410640	+	RNA	SNP	T	T	C	rs6583273	by1000genomes	TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837																											TTGATGAGTATGATCACTCCA	0.468000													2	6					0	0	0.004672	0	0
GOLGA8DP	0	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													3	78					0	0	0.004672	0	0
TOP2A	7153	broad.mit.edu	37	17	38552660	38552660	+	Missense_Mutation	SNP	T	T	C			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr17:38552660T>C	ENST00000423485.1	-	28	3753	c.3595A>G	c.(3595-3597)Aag>Gag	p.K1199E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1199					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCCTTGGCCTTCCCCCCTTTC	0.428000													3	60					0	0	0.004672	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	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				5	26					0	0	0.001168	0	0
UNC5A	90249	broad.mit.edu	37	5	176304656	176304656	+	Missense_Mutation	SNP	C	C	G			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr5:176304656C>G	ENST00000329542.4	+	10	1861	c.1587C>G	c.(1585-1587)gaC>gaG	p.D529E	UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	529	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCCTGACAGCTGGAGCC	0.647000													3	35					0	0	0.000248	0	0
LINC00969	0	broad.mit.edu	37	3	195410640	195410640	+	RNA	SNP	T	T	C	rs6583273	by1000genomes	TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837																											TTGATGAGTATGATCACTCCA	0.468000													2	6					0	0	0.004672	0	0
RTN3	10313	broad.mit.edu	37	11	63487681	63487681	+	Silent	SNP	T	T	C			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr11:63487681T>C	ENST00000377819.5	+	3	1861	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.P457P	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	569					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGATCAGCCTGATATTCTTG	0.413000													3	47					0	0	0.004672	0	0
TOP2A	7153	broad.mit.edu	37	17	38552660	38552660	+	Missense_Mutation	SNP	T	T	C			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr17:38552660T>C	ENST00000423485.1	-	28	3753	c.3595A>G	c.(3595-3597)Aag>Gag	p.K1199E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1199					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCCTTGGCCTTCCCCCCTTTC	0.428000													3	60					0	0	0.004672	0	0
TRERF1	55809	broad.mit.edu	37	6	42236552	42236552	+	Silent	SNP	C	C	T			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr6:42236552C>T	ENST00000541110.1	-	5	1345	c.777G>A	c.(775-777)caG>caA	p.Q259Q	TRERF1_ENST00000372922.4_Silent_p.Q259Q|TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	259	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGCATGTGCTGTGACAGCA	0.582000													3	52					0	0	0.004672	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	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				5	26					0	0	0.001168	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													3	63					0	0	0.004672	0	0
UNC5A	90249	broad.mit.edu	37	5	176304656	176304656	+	Missense_Mutation	SNP	C	C	G			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr5:176304656C>G	ENST00000329542.4	+	10	1861	c.1587C>G	c.(1585-1587)gaC>gaG	p.D529E	UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	529	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCCTGACAGCTGGAGCC	0.647000													3	35					0	0	0.000248	0	0
ROCK1P1	0	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													2	4	---	---	---	---					
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000429204.1	-	2	603_611	c.276_284delCAGCGGCAG	c.(274-285)agt>ag	p.SSGS92del	ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													10	15	---	---	---	---					
TRGC2	0	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													7	72	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805472	21805473	+	In_Frame_Ins	INS	-	-	CCTCCT			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr10:21805472_21805473insCCTCCT	ENST00000449193.2	-	4	3531_3532	c.1279_1280insAGGAGG	c.(1279-1281)gga>AGGAGGgga	p.426_427insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.347_348insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GCccccctcctcctcctcttcc	0.614													2	4	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													16	168	---	---	---	---					
