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
CYP11B1	0	broad.mit.edu	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs138706121		TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr8:143956706G>A	ENST00000292427.4	-	7	1176	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CYP11B1_ENST00000517471.1_Silent_p.L382L|CYP11B1_ENST00000377675.3_Silent_p.L453L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	382					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ACTCGCTCCAGAAACAGACCC	0.607000									Familial Hyperaldosteronism type I				4	40					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	76					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141269	42141269	+	Translation_Start_Site	SNP	G	G	A	rs9471793	by1000genomes	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr6:42141269G>A	ENST00000394237.1	+	0	894				GUCA1A_ENST00000541991.1_De_novo_Start_OutOfFrame|GUCA1A_ENST00000372958.1_De_novo_Start_OutOfFrame|GUCA1A_ENST00000053469.4_De_novo_Start_OutOfFrame			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)						signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACGGCCCCGTTGTCGGCCA	0.602000													3	30					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715180	53715180	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr12:53715180C>T	ENST00000209873.4	-	1	235	c.70G>A	c.(70-72)Gag>Aag	p.E24K	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.E24K|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	24					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GTCACCAGCTCGTTATTGTGC	0.652000											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	184					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			35	91					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6524	6524	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chrM:6524T>C	ENST00000361624.2	+	1	621	c.621T>C	c.(619-621)acT>acC	p.207_207insT						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCTGGCATCACTATACTACTA	0.517000													3	50					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25490518	25490518	+	RNA	SNP	T	T	C	rs1969608	by1000genomes	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr15:25490518T>C	ENST00000453082.2	+	0	2669					NR_003343.1																						ACCCCCAGTGTGCTGAAGCTC	0.622000													3	46					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	38					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													4	66					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864326	47864326	+	Silent	SNP	G	G	A			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr20:47864326G>A	ENST00000396105.1	-	14	5481	c.5235C>T	c.(5233-5235)cgC>cgT	p.R1745R	ZNFX1_ENST00000371752.1_Silent_p.R1745R|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1745							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAAGCTCAAGCGCTTCTTGG	0.502000													5	102					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52864966	52864966	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr12:52864966C>T	ENST00000252250.6	-	5	1074	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	343	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGAGCAATCTCCTCGTATTGG	0.577000													7	248					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6601950	6601950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:6601950G>A	ENST00000377705.5	-	6	1047	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	339					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AATTCTGTCTGTCCCAGATCA	0.343000													3	37					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133313	42133313	+	Missense_Mutation	SNP	C	C	T	rs112325334		TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr19:42133313C>T	ENST00000221954.2	-	1	129	c.19G>A	c.(19-21)Gct>Act	p.A7T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A7T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	7						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACGGGGAGCGGCTGAGGGG	0.652000													15	22					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146697048	146697048	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr4:146697048C>G	ENST00000508784.1	-	10	2813	c.2586G>C	c.(2584-2586)caG>caC	p.Q862H	ZNF827_ENST00000513320.1_Missense_Mutation_p.Q512H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q862H			Q17R98	ZN827_HUMAN	zinc finger protein 827	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGGTCAAGTGCTGGTTCAGAT	0.502000													4	80					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	rs1799990	byFrequency	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547000													4	95					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495497	6495497	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr19:6495497C>T	ENST00000264071.2	-	4	1384	c.1013G>A	c.(1012-1014)aGc>aAc	p.S338N	TUBB4A_ENST00000540257.1_Missense_Mutation_p.S338N			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	338					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GAAGTAGCTGCTGTTCTTGCT	0.657000													7	271					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135556	55135556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr11:55135556C>T	ENST00000314706.3	+	1	197	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T66M(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TACATGGTGACGATAATGGGC	0.423000													3	57					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25479337	25479337	+	RNA	SNP	A	A	G	rs2714758	by1000genomes	TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr15:25479337A>G	ENST00000453082.2	+	0	1878					NR_003343.1																						CTGAGCTGTGATGACCATATC	0.572000													6	132					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561444	145561444	+	Silent	SNP	C	C	T			TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:145561444C>T	ENST00000355594.4	+	10	1219	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	378										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGACCTGCTGGCTGAGAG	0.562000													21	37					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-EM-A4FU-01A-11D-A257-08	TCGA-EM-A4FU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31cf35c-b7f8-4d90-8cd1-848e85adc37c	5f85bdc6-3c1c-4257-82c2-52c399e9b322	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													4	6	---	---	---	---					
