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
PXK	54899	broad.mit.edu	37	3	58395861	58395861	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:58395861G>A	uc003djz.1	+	15	1539	c.1440G>A	c.(1438-1440)gcG>gcA	p.A480A	PXK_uc003djx.1_Silent_p.A480A|PXK_uc003dka.1_Silent_p.A480A|PXK_uc003dkb.1_Silent_p.A397A|PXK_uc003dkc.1_Silent_p.A463A|PXK_uc011bfe.1_Silent_p.A447A|PXK_uc010hnj.1_Silent_p.A447A|PXK_uc003dkd.1_Silent_p.A343A|PXK_uc010hnk.1_Silent_p.A254A	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	480	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGCATTCAGCGAAGTACAGCA	0.433000													33	41					0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34123457	34123457	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr21:34123457C>T	uc002yqn.3	-	8	1770	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	GCFC1_uc002yql.3_Missense_Mutation_p.R36H|GCFC1_uc002yqm.3_Missense_Mutation_p.R21H|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.R527H	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	527						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TGCAATGCGACGTTTTGCATG	0.463000													19	67					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151127118	151127118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:151127118C>T	uc003eyp.3	+	37	5932	c.5803C>T	c.(5803-5805)Cag>Tag	p.Q1935*	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1935	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAAGCACAGGTACCCAC	0.507000													6	98					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68542876	68542876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr11:68542876G>A	uc001oog.4	-	12	1653	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	CPT1A_uc001oof.4_Nonsense_Mutation_p.Q495*	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	495					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TAGCCCAGCTGGAGGCTGTCA	0.483000													51	84					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531054	140531054	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:140531054G>A	uc003lir.3	+	0	1216	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	406	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.G405G(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGAAGGCGCGCTGGACAG	0.483000													15	161					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118506611	118506611	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:118506611G>T	uc010jcl.1	+	23	6306	c.6125G>T	c.(6124-6126)cGt>cTt	p.R2042L	DMXL1_uc003ksd.2_Missense_Mutation_p.R2042L|DMXL1_uc021ycw.1_Missense_Mutation_p.R1869L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2042										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAGAACTTCGTACTTTATCT	0.358000													43	46					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187000075	187000075	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:187000075G>C	uc003iyq.3	+	2	624	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	TLR3_uc011ckz.2_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	175					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATCTCCAAGAGCTTCTATT	0.313000													23	30					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326078	57326078	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:57326078C>A	uc002qnu.2	-	6	4083	c.3732G>T	c.(3730-3732)atG>atT	p.M1244I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1215I|PEG3_uc002qnv.2_Missense_Mutation_p.M1244I|PEG3_uc002qnw.2_Missense_Mutation_p.M1120I|PEG3_uc002qnx.2_Missense_Mutation_p.M1118I|PEG3_uc010etr.2_Missense_Mutation_p.M1244I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1244					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAAGTCTCATATGCTCAT	0.498000													11	81					0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99017173	99017173	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:99017173A>G	uc004awa.1	-	2	302	c.254T>C	c.(253-255)cTa>cCa	p.L85P	HSD17B3_uc010msc.1_Missense_Mutation_p.L85P	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	85					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AATGGCCTCTAGTTTTTCCAG	0.512000													16	26					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	890299	890299	+	Silent	SNP	T	T	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:890299T>C	uc003gbm.4	-	6	889	c.690A>G	c.(688-690)gaA>gaG	p.E230E	GAK_uc003gbn.4_Silent_p.E151E|GAK_uc010ibk.1_Silent_p.E124E|GAK_uc003gbl.4_Silent_p.E94E	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	230	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGTCTATGATTTCTGGTGTTC	0.453000													11	59					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr16:2880459C>T	uc002cru.3	+	1	201	c.125C>T	c.(124-126)aCg>aTg	p.T42M		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	42	Poly-Leu.					extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662000													7	5					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123345699	123345699	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:123345699C>T	uc003ego.3	-	30	5486	c.5204G>A	c.(5203-5205)cGg>cAg	p.R1735Q	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Missense_Mutation_p.R170Q|MYLK_uc011bjv.2_Missense_Mutation_p.R535Q|MYLK_uc011bjw.2_Missense_Mutation_p.R1735Q|MYLK_uc003egp.3_Missense_Mutation_p.R1666Q|MYLK_uc003egq.3_Missense_Mutation_p.R1684Q|MYLK_uc003egr.3_Missense_Mutation_p.R1615Q|MYLK_uc003egs.3_Missense_Mutation_p.R1559Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1735	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCTTCATCCGGTCCTTGGA	0.493000													13	105					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	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	0.368000	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				48	72					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73870808	73870808	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:73870808G>A	uc002jpw.3	-	5	1700	c.1673C>T	c.(1672-1674)gCc>gTc	p.A558V	TRIM47_uc002jpv.3_Missense_Mutation_p.A320V	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	558	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding	p.R557C(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGCCAAGGCACGGTCAGC	0.667000													33	56					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039407	49039407	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr13:49039407C>T	uc001vcb.3	+	22	2558	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R798fs*17(2)|p.R798W(2)|p.L797fs*1(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCACCCTTACGGATTCCTGG	0.408000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			24	161					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633271	138633271	+	Missense_Mutation	SNP	C	C	A	rs137852237		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:138633271C>A	uc004fas.1	+	5	600	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	F9_uc004fat.1_Missense_Mutation_p.R153S	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	191		Cleavage; by factor XIa.	R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.).|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TAAGCTCACCCGTGCTGAGAC	0.358000													12	126					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225805	152225805	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:152225805G>A	uc004fhc.2	+	1	729	c.393G>A	c.(391-393)tcG>tcA	p.S131S	PNMA3_uc022cho.1_Silent_p.S131S|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	131					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ccaattgttcggctccaagag	0.532000													20	73					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:5401259delG	uc003soi.4	-	13	4976	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1543							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692													2	4	---	---	---	---