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
LRP2	4036	broad.mit.edu	37	2	169995788	169995788	+	Missense_Mutation	SNP	A	G	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:169995788A>G	uc002ues.3	-	73	13574	c.13361T>C	c.(13360-13362)cTt>cCt	p.L4454P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4454					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCAGGCAAAAGGGAGCCGGT	0.468													0	1	0	0	0	90	4
ETNK2	55224	broad.mit.edu	37	1	204115853	204115853	+	Silent	SNP	G	A	A	rs139650333		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr1:204115853G>A	uc001han.4	-	2	885	c.558C>T	c.(556-558)caC>caT	p.H186H	ETNK2_uc010pqr.2_Silent_p.H8H|ETNK2_uc001hao.4_Silent_p.H186H|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Silent_p.H8H			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	186							ATP binding|choline kinase activity|ethanolamine kinase activity	p.H186H(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCGTTGGCGTGGATAGTAT	0.498													0	1	0	0	0	114	4
ENPP6	133121	broad.mit.edu	37	4	185012454	185012454	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr4:185012454G>A	uc003iwc.3	-	7	1341	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	400					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTGGGCAGCGGGGTGATGCC	0.587													0	1	0	0	0	130	61
FAM55B	120406	broad.mit.edu	37	11	114569205	114569205	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr11:114569205C>G	uc009yyy.2	+	2	669	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	191						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						TTCCCTGTCTCTGCTGCTCAT	0.537													0	1	0	0	0	47	3
ZNF263	10127	broad.mit.edu	37	16	3339612	3339612	+	Missense_Mutation	SNP	C	T	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr16:3339612C>T	uc002cuq.3	+	5	1438	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	ZNF263_uc010uww.2_Missense_Mutation_p.P17L|ZNF263_uc002cur.2_Missense_Mutation_p.P17L	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	369					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGGGGCGACCGAAGGAACTG	0.532													0	1	0	0	0	37	33
SAMD5	389432	broad.mit.edu	37	6	147830172	147830172	+	Silent	SNP	C	A	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:147830172C>A	uc003qmc.2	+	0	345	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN	Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.	36	SAM.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCAAGCAGATCGGGGACCCGG	0.667													1.47E-03	1	1.37E-03	0	1	70	11
FIGF	2277	broad.mit.edu	37	X	15365368	15365368	+	Missense_Mutation	SNP	T	G	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chrX:15365368T>G	uc004cwt.2	-	5	1323	c.856A>C	c.(856-858)Aaa>Caa	p.K286Q	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	286	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTGCAGTTTTTGGGGTGCTGG	0.488													0	1	0	0	0	82	3
KCNA5	3741	broad.mit.edu	37	12	5154100	5154100	+	Missense_Mutation	SNP	T	G	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr12:5154100T>G	uc001qni.3	+	0	1016	c.787T>G	c.(787-789)Tcc>Gcc	p.S263A		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	263						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TATCCTCATCTCCATCATCAC	0.642													0	1	0	0	0	258	35
ILF3	3609	broad.mit.edu	37	19	10789305	10789305	+	Silent	SNP	C	T	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr19:10789305C>T	uc002mpn.3	+	5	893	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpo.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	192	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502													0	1	0	0	0	154	4
KRBA2	124751	broad.mit.edu	37	17	8273458	8273458	+	Missense_Mutation	SNP	C	A	A	rs139656920	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:8273458C>A	uc002glf.1	-	1	479	c.473G>T	c.(472-474)cGt>cTt	p.R158L	KRBA2_uc002glg.1_Missense_Mutation_p.R75L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	158					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TTTTGCTGCACGGCGATAATC	0.378													4.96E-20	1	4.44E-20	0	1	204	35
ACLY	47	broad.mit.edu	37	17	40024146	40024146	+	Missense_Mutation	SNP	C	A	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:40024146C>A	uc002hyg.3	-	28	3386	c.3223G>T	c.(3223-3225)Gat>Tat	p.D1075Y	KLHL11_uc002hyf.1_5'Flank|ACLY_uc002hyh.3_Missense_Mutation_p.D1065Y|ACLY_uc002hyi.3_Missense_Mutation_p.D1129Y|ACLY_uc010wfx.2_Missense_Mutation_p.D1119Y|ACLY_uc010wfy.2_Missense_Mutation_p.D804Y	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	1075					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCTTCTGATCAAGATAGTGT	0.433													1	1	1	0	1	89	3
ECEL1	9427	broad.mit.edu	37	2	233348844	233348844	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:233348844G>A	uc002vsv.2	-	6	1479	c.1274C>T	c.(1273-1275)gCa>gTa	p.A425V	ECEL1_uc010fya.1_Missense_Mutation_p.A425V|ECEL1_uc010fyb.1_Missense_Mutation_p.A132V	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	425					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATCTCCTGTGCCAGCTCGTG	0.647													0	1	0	0	0	67	42
CCDC40	55036	broad.mit.edu	37	17	78073390	78073390	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:78073390G>A	uc010dht.3	+	19	3276	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	CCDC40_uc002jxm.4_Missense_Mutation_p.R865H|CCDC40_uc002jxn.4_Missense_Mutation_p.R478H|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1082					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAGGGGCGCTACGTGTTC	0.602													0	1	0	0	0	67	3
ALOX12	239	broad.mit.edu	37	17	6908626	6908626	+	Silent	SNP	G	T	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:6908626G>T	uc002gdx.4	+	8	1265	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	404	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCGGGCCCGGACCCAACTCA	0.552											OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4.64E-03	1	4.48E-03	0	1	534	7
OR3A3	8392	broad.mit.edu	37	17	3324444	3324444	+	Missense_Mutation	SNP	C	A	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:3324444C>A	uc010vrd.2	+	0	583	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACAGCTCTTCCAGCTCTCCTG	0.552													1.03E-35	1	8.84E-36	0	1	90	56
SLC22A16	85413	broad.mit.edu	37	6	110746110	110746110	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:110746110G>C	uc003puf.3	-	7	1767	c.1700C>G	c.(1699-1701)gCg>gGg	p.A567G	SLC22A16_uc003pue.3_Missense_Mutation_p.A548G	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	567					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.A567A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGGGGTAATCGCTTCCGTTTT	0.423													0	1	0	0	0	113	78
ZNF142	7701	broad.mit.edu	37	2	219503377	219503377	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:219503377G>C	uc002vin.3	-	9	5185	c.4749C>G	c.(4747-4749)caC>caG	p.H1583Q	ZNF142_uc002vil.3_Missense_Mutation_p.H1544Q|ZNF142_uc010fvt.3_Missense_Mutation_p.H1420Q|ZNF142_uc002vim.3_Missense_Mutation_p.H1420Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTTGCGAAGGTGGGTGCGCA	0.622													0	1	0	0	0	61	28
TAPBP	6892	broad.mit.edu	37	6	33272093	33272093	+	Silent	SNP	C	T	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:33272093C>T	uc003odx.2	-	4	1537	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	TAPBP_uc010jut.2_Silent_p.E310E|TAPBP_uc003odz.3_Silent_p.E397E|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.E397E	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	397	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CCAGGGTGACCTCAGCGCTGC	0.642													0	1	0	0	0	88	52
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	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	1	0	0	0	43	27
EFTUD2	9343	broad.mit.edu	37	17	42941058	42941058	+	Missense_Mutation	SNP	C	T	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:42941058C>T	uc002ihn.2	-	14	1639	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EFTUD2_uc010wje.1_Missense_Mutation_p.D425N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D450N	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	460						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCGCCGAGGTCGGAGTCCACA	0.552													0	1	0	0	0	141	4
