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
VTN	7448	broad.mit.edu	37	17	26696674	26696674	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:26696674C>G	uc002hbc.3	-	2	532	c.383G>C	c.(382-384)gGc>gCc	p.G128A	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	128					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTTAGAGGCGCCCACCTCAGG	0.627													0	1.88E-03	0	0	0	34	21
ADAM8	101	broad.mit.edu	37	10	135084771	135084771	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:135084771T>C	uc021qbe.1	-	12	1393	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	ADAM8_uc009ybi.3_Missense_Mutation_p.N436S|ADAM8_uc010qva.2_Missense_Mutation_p.N397S	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	397					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GGTGGTAGAGTTGCAGCAGCG	0.706													0	1.86E-03	0	0	0	18	12
CRIPAK	285464	broad.mit.edu	37	4	1389234	1389234	+	Missense_Mutation	SNP	G	A	A	rs71299249		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr4:1389234G>A	uc003gdf.2	+	0	3895	c.935G>A	c.(934-936)tGc>tAc	p.C312Y		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	312					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACGTGCC	0.667													0	6.21E-03	0	0	0	428	8
GPR174	84636	broad.mit.edu	37	X	78426795	78426795	+	Silent	SNP	G	A	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chrX:78426795G>A	uc004edg.1	+	0	327	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	97						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTTTCTACCTGAAGTATGTCA	0.448										HNSCC(63;0.18)			0	2.85E-03	0	0	0	71	48
DNAJC1	64215	broad.mit.edu	37	10	22048118	22048118	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:22048118C>T	uc001irc.3	-	10	1864	c.1577G>A	c.(1576-1578)tGt>tAt	p.C526Y		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	526	SANT 2.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGACGGGACACATCTGGCTAT	0.547													0	3.61E-03	0	0	0	137	85
RNFT1	51136	broad.mit.edu	37	17	58034708	58034708	+	Silent	SNP	T	C	C			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:58034708T>C	uc002iya.3	-	5	975	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.Q32Q	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.	294						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TTCGGTAGTATTGACACAATT	0.368													0	5.52E-03	0	0	0	42	37
CENPF	1063	broad.mit.edu	37	1	214794133	214794133	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr1:214794133A>G	uc001hkm.3	+	5	883	c.709A>G	c.(709-711)Att>Gtt	p.I237V		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	237	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAACTCCAATTAGGAGAGA	0.438													0	6.02E-04	0	0	0	169	4
CCDC88C	440193	broad.mit.edu	37	14	91770293	91770293	+	Silent	SNP	G	A	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr14:91770293G>A	uc010aty.3	-	19	3541	c.3387C>T	c.(3385-3387)agC>agT	p.S1129S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1129					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association	p.S1129S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAGCGCTGCGCTCTGGGAAC	0.657													0	3.21E-03	0	0	0	56	40
KRTAP9-3	83900	broad.mit.edu	37	17	39388991	39388991	+	Missense_Mutation	SNP	T	G	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:39388991T>G	uc021txg.1	+	0	277	c.238T>G	c.(238-240)Tgc>Ggc	p.C80G		NM_031962	NP_114168	Q9BYQ3	KRA93_HUMAN	Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.	80	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TAGCACACCCTGCTGCCAGCC	0.587													0	3.61E-03	0	0	0	61	46
SLC5A5	6528	broad.mit.edu	37	19	18001785	18001785	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:18001785C>G	uc002nhr.4	+	13	2089	c.1742C>G	c.(1741-1743)gCc>gGc	p.A581G		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	581					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGAAGTGGCCATCCTGGAT	0.612													0	3.61E-03	0	0	0	84	52
SERPINH1	871	broad.mit.edu	37	11	75277986	75277986	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr11:75277986G>A	uc001owr.3	+	1	890	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SERPINH1_uc009yuf.3_Missense_Mutation_p.A198T|SERPINH1_uc009yug.3_Missense_Mutation_p.A198T|SERPINH1_uc001ows.3_Missense_Mutation_p.A198T|SERPINH1_uc001owt.3_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	198					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CACGGACGGCGCCCTGCTAGT	0.657													0	2.84E-03	0	0	0	45	29
LAMB1	3912	broad.mit.edu	37	7	107594163	107594163	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:107594163C>T	uc003vev.2	-	19	3124	c.2963G>A	c.(2962-2964)gGc>gAc	p.G988D	LAMB1_uc003vew.2_Missense_Mutation_p.G964D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	964	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATGGATTGCCAAAGTATCC	0.502													0	6.21E-03	0	0	0	119	8
DDX39A	10212	broad.mit.edu	37	19	14523412	14523412	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:14523412G>A	uc002myo.3	-	2	405	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_uc010xnp.2_Missense_Mutation_p.A96V|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.A96V	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	96	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642													0	1.86E-03	0	0	0	53	13
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	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	3.76E-03	0	0	0	68	33
SEC22C	9117	broad.mit.edu	37	3	42597460	42597460	+	Silent	SNP	G	A	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr3:42597460G>A	uc003clj.3	-	5	883	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SEC22C_uc003clh.3_Silent_p.L225L|SEC22C_uc010hic.3_Intron|SEC22C_uc011azo.2_Silent_p.L155L|SEC22C_uc003cli.3_Silent_p.L225L	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	225					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGAAAAGCCAGAATGTTTCCA	0.383													0	3.95E-03	0	0	0	28	22
SENP6	26054	broad.mit.edu	37	6	76385768	76385768	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr6:76385768C>G	uc003pid.4	+	12	2238	c.1619C>G	c.(1618-1620)aCa>aGa	p.T540R	SENP6_uc003pie.4_Missense_Mutation_p.T533R|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.T533R|SENP6_uc003pif.1_Missense_Mutation_p.T431R	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	540					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAATTAACAAGTAAGTTG	0.303													0	6.21E-03	0	0	0	26	9
GRIN2A	2903	broad.mit.edu	37	16	9923438	9923438	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr16:9923438C>A	uc010uym.2	-	9	2159	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	GRIN2A_uc002czo.4_Missense_Mutation_p.V617L|GRIN2A_uc010uyn.2_Missense_Mutation_p.V460L|GRIN2A_uc002czr.4_Missense_Mutation_p.V617L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	617					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGACAGGCACGGAGTTATTG	0.488													2.86E-17	3.27E-03	2.42E-17	0	1	59	32
MICAL3	57553	broad.mit.edu	37	22	18314678	18314679	+	In_Frame_Ins	INS	-	TCC	TCC			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr22:18314678_18314679insTCC	uc002zng.4	-	20	3349_3350	c.2996_2997insGGA	c.(2995-2997)gaa>gaGGAa	p.999_999E>EE	MICAL3_uc011agl.2_In_Frame_Ins_p.999_999E>EE	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	999	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		cttcatattcttcctcctcctc	0.550																		2	6
