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
DOCK5	80005	broad.mit.edu	37	8	25253084	25253084	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25253084C>T	uc003xeg.3	+	44	4690	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Missense_Mutation_p.A1088V|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1518	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTGGAGAATGCCATCGAAACC	0.512000													4	95					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149832053	149832053	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chrX:149832053A>G	uc004fef.4	+	13	1691	c.1615A>G	c.(1615-1617)Att>Gtt	p.I539V	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.I502V|MTM1_uc011mxz.2_Missense_Mutation_p.I424V|MTM1_uc010nte.3_Missense_Mutation_p.I407V	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	539					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTACTACATTAGATGGAA	0.363000													4	120					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969513	118969513	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:118969513T>G	uc010qsr.2	+	2	858	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	286						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCCCCATCATTGCCCTTATTG	0.502000													12	129					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345045	20345045	+	Missense_Mutation	SNP	G	G	T	rs145713695		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr14:20345045G>T	uc001vwh.1	+	0	619	c.619G>T	c.(619-621)Gcg>Tcg	p.A207S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATAATTGCGTTGTCCTG	0.403000													11	354					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:102267770C>T	uc001krc.1	-	5	636	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_uc010qpo.1_Silent_p.R177R|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Silent_p.R181R|SEC31B_uc009xwn.1_Silent_p.R178R|SEC31B_uc009xwo.1_Silent_p.R178R|SEC31B_uc010qpq.1_Silent_p.R21R|SEC31B_uc010qpr.1_Non-coding_Transcript	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	178					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517000													4	123					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52260235	52260235	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:52260235T>C	uc001ctc.4	-	25	3210	c.2888A>G	c.(2887-2889)cAg>cGg	p.Q963R	NRD1_uc009vzb.3_Missense_Mutation_p.Q658R|NRD1_uc001cte.3_Missense_Mutation_p.Q831R|NRD1_uc001ctd.4_Missense_Mutation_p.Q895R|NRD1_uc001ctf.2_Missense_Mutation_p.Q895R|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	894					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCTACCACCTGGAACTGCAC	0.493000													4	311					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219168	1219168	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr5:1219168C>T	uc003jbw.4	+	8	1380	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	442					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCGTTGTGCCCCTGCAGGA	0.592000													3	32					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59861733	59861734	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861733_59861734CC>AA	uc002izk.2	-	10	1831_1832	c.1525_1526GG>TT	c.(1525-1527)ggt>TTt	p.G509F		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	509					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCCTCTTTACCATAAATTGGT	0.347000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					6	202					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89352008	89352008	+	Silent	SNP	G	G	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr16:89352008G>C	uc002fmx.1	-	8	1403	c.942C>G	c.(940-942)gtC>gtG	p.V314V	ANKRD11_uc002fmy.1_Silent_p.V314V|ANKRD11_uc002fnc.1_Silent_p.V314V|ANKRD11_uc002fnb.1_Silent_p.V271V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	314						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTTGCCGTCGACTGAACTGG	0.572000													6	105					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25340935	25340935	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25340935T>G	uc003xep.1	+	8	1530	c.1053T>G	c.(1051-1053)taT>taG	p.Y351*	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Nonsense_Mutation_p.Y351*|CDCA2_uc003xeq.1_Nonsense_Mutation_p.Y336*|CDCA2_uc003xer.1_Nonsense_Mutation_p.Y14*	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	351					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAACCTCTATGATGATGATG	0.328000													4	46					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901656	31901656	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr6:31901656A>C	uc011dor.2	+	3	707	c.443A>C	c.(442-444)tAt>tCt	p.Y148S	CFB_uc003nyc.2_Missense_Mutation_p.M42L|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Missense_Mutation_p.Y87S|CFB_uc003nye.4_Missense_Mutation_p.Y210S|CFB_uc003nyf.3_Missense_Mutation_p.Y210S|CFB_uc010jtk.3_Missense_Mutation_p.Y78S|CFB_uc011doq.2_Missense_Mutation_p.Y181S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	224	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCCTACTCTTATGACTTCCCT	0.627000													24	27					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055153	36055153	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:36055153C>T	uc003aoe.3	+	2	836	c.542C>T	c.(541-543)gCc>gTc	p.A181V	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	181					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TTGAAGTATGCCAAGAAAAAC	0.498000													4	80					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39250247	39250247	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:39250247C>T	uc002rrk.4	-	9	1363	c.1322G>A	c.(1321-1323)tGt>tAt	p.C441Y	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.C55Y|SOS1_uc002rrl.3_Missense_Mutation_p.C173Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	441			C -> Y (in NS4).		Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATTCATTACAACACTGTCC	0.363000									Noonan syndrome				4	112					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13991282	13991282	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr19:13991282C>T	uc002mxj.4	+	1	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	163					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAGTCTGAGCCTTCGCCCTC	0.607000											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	67					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	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				19	40					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454533	100454533	+	Silent	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:100454533C>T	uc003uwp.3	+	4	634	c.492C>T	c.(490-492)taC>taT	p.Y164Y	SLC12A9_uc003uwo.1_Silent_p.Y75Y|SLC12A9_uc003uwq.3_Silent_p.Y75Y|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	164						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAGGGCTACGGCTGGAACC	0.662000													24	49					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798858	57798858	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr11:57798858G>A	uc010rjz.2	+	0	434	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGGGCACCTGCATCCGTCTG	0.517000													4	87					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212964938	212964938	+	Silent	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:212964938G>A	uc001hjn.3	-	0	202	c.168C>T	c.(166-168)ttC>ttT	p.F56F	NSL1_uc001hjm.3_Silent_p.F56F|NSL1_uc010pti.2_Silent_p.F56F|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	56					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTTGCACGAAGCGGCCGC	0.617000													14	197					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948217	145948217	+	Silent	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:145948217G>A	uc003zdv.4	-	4	1084	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGAGAATTGAGTCCAAAAG	0.438000													6	61					0	0	1	0	0
YPEL1	29799	broad.mit.edu	37	22	22055423	22055423	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:22055423C>T	uc002zvl.3	-	4	687	c.355G>A	c.(355-357)Gag>Aag	p.E119K	YPEL1_uc002zvm.3_Non-coding_Transcript	NM_013313	NP_037445	O60688	YPEL1_HUMAN	Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA.	119						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GCACATTACTCCCAGCCATTG	0.408000													3	30					0	0	1	0	0
CDNF	441549	broad.mit.edu	37	10	14879853	14879853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:14879853delC	uc001inb.1	-	0	131	c.93delG	c.(91-93)gggfs	p.G31fs	CDNF_uc010qbv.1_Frame_Shift_Del_p.G31fs|CDNF_uc001inc.1_Intron|HSPA14_uc001ind.3_5'Flank|HSPA14_uc001ine.3_5'Flank|HSPA14_uc010qbw.2_5'Flank|HSPA14_uc001inf.3_5'Flank	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	Homo sapiens cerebral dopamine neurotrophic factor (CDNF), mRNA.	31						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						CCCCTGGCCGCCCCCCGGCCT	0.701													2	4	---	---	---	---