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
BRCA2	675	broad.mit.edu	37	13	32913950	32913950	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr13:32913950T>C	ENST00000544455.1	+	11	5685	c.5458T>C	c.(5458-5460)Tgc>Cgc	p.C1820R	BRCA2_ENST00000380152.3_Missense_Mutation_p.C1820R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1820					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTTCACCCTGCAAAAATAA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	95					0	0	0.009096	0	0
WNK2	65268	broad.mit.edu	37	9	96051588	96051588	+	Missense_Mutation	SNP	C	C	G	rs35091400		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr9:96051588C>G	ENST00000297954.4	+	20	4663	c.4663C>G	c.(4663-4665)Ccc>Gcc	p.P1555A	WNK2_ENST00000395477.2_Missense_Mutation_p.P1518A|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1167A|WNK2_ENST00000427277.2_Missense_Mutation_p.P1130A			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1555					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCAAGCCCACCCCTGGGGCC	0.721000													6	14					0	0	0.021553	0	0
GRM6	2916	broad.mit.edu	37	5	178418557	178418557	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr5:178418557C>G	ENST00000231188.5	-	3	903	c.725G>C	c.(724-726)gGg>gCg	p.G242A	GRM6_ENST00000517717.1_Missense_Mutation_p.G242A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	242					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AATACAGACCCCCCCTGGGCG	0.627000													46	138					0	0	0.048971	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	33					0	0	0.004672	0	0
BOC	91653	broad.mit.edu	37	3	113005568	113005568	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr3:113005568T>G	ENST00000495514.1	+	20	3908	c.3204T>G	c.(3202-3204)agT>agG	p.S1068R	BOC_ENST00000355385.3_Missense_Mutation_p.S1068R|BOC_ENST00000273395.4_Missense_Mutation_p.S1069R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1068					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGTGGACAGTCCTGACTCCT	0.597000													4	303					0	0	0.014758	0	0
PYGO1	26108	broad.mit.edu	37	15	55839051	55839051	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr15:55839051G>A	ENST00000302000.6	-	3	524	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PYGO1_ENST00000563719.1_Missense_Mutation_p.H144Y	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	144					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTAAAAGCATGAGGTCGATTA	0.423000													30	52					0	0	0.034045	0	0
SLC7A11	23657	broad.mit.edu	37	4	139157528	139157528	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:139157528C>A	ENST00000280612.5	-	2	634	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	119					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGTAATGGACCAAAGACTTCC	0.338000													20	49					4.35082e-09	8.15778e-09	0.055883	1	0
SORBS2	8470	broad.mit.edu	37	4	186578641	186578641	+	Silent	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:186578641T>C	ENST00000431808.1	-	7	767	c.204A>G	c.(202-204)aaA>aaG	p.K68K	SORBS2_ENST00000448662.2_Silent_p.K137K|SORBS2_ENST00000284776.7_Silent_p.K68K|SORBS2_ENST00000449407.2_Silent_p.K154K|SORBS2_ENST00000393528.3_Silent_p.K114K|SORBS2_ENST00000355634.5_Silent_p.K168K|SORBS2_ENST00000319471.9_Silent_p.K154K|SORBS2_ENST00000437304.2_Silent_p.K247K			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	68	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGCGGGGCTTTGATGACTG	0.567000													7	43					0	0	0.029380	0	0
FHOD3	80206	broad.mit.edu	37	18	34340703	34340703	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr18:34340703A>C	ENST00000257209.4	+	23	4155	c.4033A>C	c.(4033-4035)Acc>Ccc	p.T1345P	FHOD3_ENST00000592128.1_Missense_Mutation_p.T324P|FHOD3_ENST00000445677.1_Missense_Mutation_p.T1307P|FHOD3_ENST00000591635.1_Missense_Mutation_p.T541P|FHOD3_ENST00000590592.1_Missense_Mutation_p.T1528P|FHOD3_ENST00000359247.4_Missense_Mutation_p.T1328P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1328					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.T1345P(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGGACGCCACCCCCGCGCT	0.682000													10	31					0	0	0.080935	0	0
SOX12	6666	broad.mit.edu	37	20	306862	306862	+	Silent	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:306862C>T	ENST00000342665.2	+	1	624	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Silent_p.L98L	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	98					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGCTGCGGCTCAAGCACATGG	0.701000													3	13					0	0	0.004672	0	0
FABP3	2170	broad.mit.edu	37	1	31845844	31845844	+	Silent	SNP	C	C	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:31845844C>A	ENST00000373713.2	-	1	79	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	6					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TCCAGGTGCCCAGGAAAGCGT	0.612000													4	50					1.23904e-05	2.23027e-05	0.014758	1	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													3	67					0	0	0.009096	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	59					0	0	0.014758	0	0
FLG	2312	broad.mit.edu	37	1	152285608	152285608	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:152285608C>T	ENST00000368799.1	-	3	1789	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	585	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACGTGACCCTGAGTGCCT	0.562000									Ichthyosis				26	356					0	0	0.108266	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	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				26	34					0	0	0.108266	0	0
KLC2	64837	broad.mit.edu	37	11	66033332	66033332	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr11:66033332A>G	ENST00000394065.2	+	11	2052	c.1034A>G	c.(1033-1035)gAc>gGc	p.D345G	KLC2_ENST00000421552.1_Missense_Mutation_p.D407G|KLC2_ENST00000316924.5_Missense_Mutation_p.D484G|KLC2_ENST00000417856.1_Missense_Mutation_p.D484G|KLC2_ENST00000394066.2_Missense_Mutation_p.D407G|KLC2_ENST00000394067.2_Missense_Mutation_p.D484G|KLC2_ENST00000394078.1_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	484					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGGGTTTGGACCCCGCAAGC	0.672000													3	66					0	0	0.004672	0	0
IL17REL	400935	broad.mit.edu	37	22	50436469	50436469	+	Silent	SNP	G	G	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr22:50436469G>A	ENST00000389983.2	-	11	1068	c.804C>T	c.(802-804)ccC>ccT	p.P268P	IL17REL_ENST00000341280.5_Silent_p.P268P	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	268										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGAGCTGGGGCTGGGTGT	0.692000													14	52					0	0	0.038395	0	0
PAK7	57144	broad.mit.edu	37	20	9546574	9546574	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:9546574C>T	ENST00000378429.3	-	6	1994	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PAK7_ENST00000378423.1_Missense_Mutation_p.R483Q|PAK7_ENST00000353224.5_Missense_Mutation_p.R483Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	483	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.R483Q(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTTGCTTCCGGAGGTCCAT	0.438000													26	170					0	0	0.108266	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-	rs150558136		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr6:41029581_41029583delGAG	ENST00000244669.2	+	2	690_692	c.646_648delGAG	c.(646-648)del	p.E217del		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	217					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTATACTACGAGGAGAAGTTGG	0.483													34	64	---	---	---	---					
CUEDC1	404093	broad.mit.edu	37	17	55962647	55962647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr17:55962647delG	ENST00000577830.1	-	2	692	c.279delC	c.(277-279)ggfs	p.G93fs	CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000407144.2_Frame_Shift_Del_p.G93fs	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	93										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGCCGCTGCTGCCACCGCCCT	0.642													40	71	---	---	---	---