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
NCOA2	10499	broad.mit.edu	37	8	71126273	71126273	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:71126273C>T	ENST00000452400.2	-	4	305	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	42					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATTTATTTTCCTGTTCACGA	0.284000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								8	92					0	0	2.17888e-05	0	0
MAMLD1	10046	broad.mit.edu	37	X	149642015	149642015	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:149642015G>C	ENST00000370401.2	+	5	2291	c.1981G>C	c.(1981-1983)Ggg>Cgg	p.G661R	MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G636R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G661R|MAMLD1_ENST00000432680.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	661					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCATCAACACGGGAACTCTTT	0.468000													4	67					0	0	1.23904e-05	0	0
ZNF304	57343	broad.mit.edu	37	19	57869182	57869182	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr19:57869182G>T	ENST00000391705.3	+	4	2229	c.1945G>T	c.(1945-1947)Ggt>Tgt	p.G649C	ZNF304_ENST00000282286.5_Missense_Mutation_p.G649C|ZNF304_ENST00000443917.2_Missense_Mutation_p.G696C|ZNF304_ENST00000598744.1_Missense_Mutation_p.G607C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAACAGTTTTGGTGGCCCTTT	0.438000													8	96					2.17888e-05	0.00678196	2.17888e-05	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115531817	115531817	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr10:115531817A>C	ENST00000361048.1	+	8	968	c.641A>C	c.(640-642)cAt>cCt	p.H214P	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.H208P|PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H28P|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H126P	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		GAAGAGAATCATTATCTTACT	0.368000													7	76					0	0	5.18039e-06	0	0
USH2A	7399	broad.mit.edu	37	1	215955459	215955459	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:215955459C>A	ENST00000366943.2	-	54	11051	c.10665G>T	c.(10663-10665)gaG>gaT	p.E3555D	USH2A_ENST00000307340.3_Missense_Mutation_p.E3555D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3555	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGAATTCCCTCTTTATCAG	0.413000										HNSCC(13;0.011)			9	49					1.12685e-05	0.00364233	1.12685e-05	1	0
SMARCA1	6594	broad.mit.edu	37	X	128626000	128626000	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:128626000C>A	ENST00000371122.4	-	14	1862	c.1733G>T	c.(1732-1734)gGt>gTt	p.G578V	SMARCA1_ENST00000371123.1_Missense_Mutation_p.G566V|SMARCA1_ENST00000371121.3_Missense_Mutation_p.G566V	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	578	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AATTCCGAGACCTCCAGCCCT	0.378000													8	177					3.09899e-07	0.000104175	1.12685e-05	1	0
CD1D	912	broad.mit.edu	37	1	158151871	158151871	+	Silent	SNP	C	C	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:158151871C>T	ENST00000368171.3	+	4	877	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	126					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACCCTGGGAACGCCTCAAATA	0.493000													10	147					0	0	3.86212e-05	0	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333000													4	18					0	0	2.56e-06	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		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.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	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)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	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				10	88					0	0	2.17888e-05	0	0
BTBD9	114781	broad.mit.edu	37	6	38561844	38561844	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr6:38561844C>T	ENST00000481247.1	-	3	596	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	BTBD9_ENST00000419706.2_Missense_Mutation_p.A90T|BTBD9_ENST00000314100.6_Missense_Mutation_p.A81T|BTBD9_ENST00000408958.1_Missense_Mutation_p.A81T|BTBD9_ENST00000403056.1_Missense_Mutation_p.A149T	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	149	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TAGAGACTGGCAACATCAAAA	0.428000													10	246					0	0	6.40141e-05	0	0
WDR44	54521	broad.mit.edu	37	X	117526644	117526644	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:117526644A>C	ENST00000254029.3	+	4	631	c.236A>C	c.(235-237)gAt>gCt	p.D79A	WDR44_ENST00000371822.5_Missense_Mutation_p.D54A|WDR44_ENST00000371825.3_Missense_Mutation_p.D79A|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	79	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGCTTGAAGATGACTCTTTG	0.368000													4	91					0	0	2.56e-06	0	0
HMBOX1	79618	broad.mit.edu	37	8	28837591	28837591	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:28837591G>C	ENST00000397358.3	+	5	1208	c.504G>C	c.(502-504)agG>agC	p.R168S	HMBOX1_ENST00000524238.1_Missense_Mutation_p.R168S|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R168S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R168S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R168S|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R168S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R168S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R168S|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R168S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	168					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGTTAGGAGGGACAGCAGTG	0.443000													4	79					0	0	2.56e-06	0	0
SIK3	23387	broad.mit.edu	37	11	116728533	116728533	+	Silent	SNP	G	G	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr11:116728533G>T	ENST00000375300.1	-	20	3509	c.3504C>A	c.(3502-3504)ccC>ccA	p.P1168P	SIK3_ENST00000542607.1_Silent_p.P1050P|SIK3_ENST00000446921.2_Silent_p.P1108P|SIK3_ENST00000292055.4_Silent_p.P1110P|SIK3_ENST00000434315.2_Silent_p.P949P|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.P445P			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1110						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TACCTCTGCTGGGCACCTTAT	0.458000													6	106					1.06961e-07	3.74543e-05	5.18039e-06	1	0
SYBU	55638	broad.mit.edu	37	8	110590244	110590244	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:110590244C>G	ENST00000399066.3	-	5	1455	c.728G>C	c.(727-729)cGt>cCt	p.R243P	SYBU_ENST00000433638.1_Missense_Mutation_p.R246P|SYBU_ENST00000419099.1_Missense_Mutation_p.R245P|SYBU_ENST00000446070.2_Missense_Mutation_p.R245P|SYBU_ENST00000408908.2_Missense_Mutation_p.R246P|SYBU_ENST00000533171.1_Missense_Mutation_p.R246P|SYBU_ENST00000529175.1_Missense_Mutation_p.R40P|SYBU_ENST00000408889.3_Missense_Mutation_p.R127P|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000422135.1_Missense_Mutation_p.R246P|SYBU_ENST00000528647.1_Missense_Mutation_p.R245P|SYBU_ENST00000528331.1_Missense_Mutation_p.R127P|SYBU_ENST00000440310.1_Missense_Mutation_p.R246P|SYBU_ENST00000424158.2_Missense_Mutation_p.R251P|SYBU_ENST00000532779.1_Missense_Mutation_p.R178P|SYBU_ENST00000529690.1_Missense_Mutation_p.R116P|SYBU_ENST00000276646.9_Missense_Mutation_p.R246P|SYBU_ENST00000533895.1_Missense_Mutation_p.R245P|SYBU_ENST00000533065.1_Missense_Mutation_p.R127P	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCTTCCAGAACGCCTGAAACA	0.428000													6	107					0	0	1.12685e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38592533	38592533	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:38592533A>G	ENST00000413689.1	-	28	5523	c.5330T>C	c.(5329-5331)gTg>gCg	p.V1777A	SCN5A_ENST00000450102.2_Missense_Mutation_p.V1723A|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1723A|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1723A|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1744A|SCN5A_ENST00000333535.4_Missense_Mutation_p.V1777A|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1759A|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1776A|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1776A|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1759A	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1777			V -> M (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCGTGGCCACGCTGAAGTT	0.522000													4	47					0	0	2.56e-06	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr10:37430948C>G	ENST00000374660.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423000													5	65					0	0	1.23904e-05	0	0
EVC2	132884	broad.mit.edu	37	4	5620263	5620263	+	Missense_Mutation	SNP	G	G	A	rs140951974	byFrequency	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr4:5620263G>A	ENST00000310917.2	-	15	3139	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	EVC2_ENST00000344408.5_Missense_Mutation_p.A883V|EVC2_ENST00000344938.1_Missense_Mutation_p.A883V	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	883						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCTCGCCACGCAGTCTGAAA	0.612000													5	35					0	0	1.23904e-05	0	0
TOR3A	64222	broad.mit.edu	37	1	179064224	179064224	+	Missense_Mutation	SNP	G	G	C	rs143589216	by1000genomes	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:179064224G>C	ENST00000367627.3	+	6	1817	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	355					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGAGCCAGGAGCTCCTGTATA	0.498000													5	79					0	0	1.23904e-05	0	0
ZNF415	55786	broad.mit.edu	37	19	53612607	53612607	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr19:53612607T>C	ENST00000455735.2	-	7	1155	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279V|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218V|ZNF415_ENST00000421033.1_Missense_Mutation_p.M243V|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.M231V|ZNF415_ENST00000500065.4_Missense_Mutation_p.M231V|ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1V|ZNF415_ENST00000597503.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CGTACAGTCATGTGTGAGCCA	0.403000													7	92					0	0	2.17888e-05	0	0
COL21A1	81578	broad.mit.edu	37	6	56044546	56044546	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr6:56044546G>A	ENST00000244728.5	-	3	867	c.470C>T	c.(469-471)gCa>gTa	p.A157V	COL21A1_ENST00000370819.1_Missense_Mutation_p.A157V|COL21A1_ENST00000535941.1_Missense_Mutation_p.A157V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	157	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATCTCTTGCTGCTTGAGCTGC	0.423000													5	39					0	0	3.59834e-05	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926095	67926095	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr11:67926095G>C	ENST00000304363.4	-	11	2071	c.1718C>G	c.(1717-1719)cCc>cGc	p.P573R		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCACTGTCGGGGCAAGGTTC	0.507000													4	92					0	0	2.56e-06	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004687	101004687	+	Silent	SNP	G	G	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr14:101004687G>C	ENST00000556751.1	-	5	4613	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	BEGAIN_ENST00000355173.2_Silent_p.L467L|BEGAIN_ENST00000443071.2_Silent_p.L467L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	467						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				AGCTGGCGTAGAGCGGGCTGG	0.741000													3	15					0	0	2.56e-06	0	0
TG	7038	broad.mit.edu	37	8	133899181	133899181	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:133899181C>T	ENST00000220616.4	+	9	1604	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F	TG_ENST00000377869.1_Missense_Mutation_p.L522F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	522					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCCAAGCCACTCTCTGTGGG	0.453000													5	60					0	0	1.23904e-05	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580523	35580523	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:35580523G>C	ENST00000373330.1	+	11	3266	c.3092G>C	c.(3091-3093)cGa>cCa	p.R1031P	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R1031P			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1031						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATTTTATCGACATTATGCA	0.323000													5	114					0	0	1.23904e-05	0	0
MOBP	4336	broad.mit.edu	37	3	39543982	39543983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:39543982_39543983insA	ENST00000311042.6	+	4	384_385	c.235_236insA	c.(235-237)agafs	p.R79fs	MOBP_ENST00000396228.1_Intron|MOBP_ENST00000428261.1_Intron|MOBP_ENST00000441980.2_Intron|MOBP_ENST00000420739.1_Intron|MOBP_ENST00000354668.4_Intron|MOBP_ENST00000479860.1_Intron|MOBP_ENST00000447324.1_Intron|MOBP_ENST00000415443.1_Intron|MOBP_ENST00000383754.3_Intron	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	68	Pro-rich.				nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		AAGCAGCAGAGGAGAGCCCTGG	0.658													2	4	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:142274740delT	ENST00000350721.4	-	10	2441	c.2320delA	c.(2320-2322)tafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGACTAGGTATTTTTTTTTTC	0.328								Other conserved DNA damage response genes					7	137	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													5	2	---	---	---	---					
AMBN	258	broad.mit.edu	37	4	71467206	71467206	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr4:71467206delA	ENST00000322937.6	+	6	469	c.366delA	c.(364-366)ggfs	p.G122fs	AMBN_ENST00000449493.2_Frame_Shift_Del_p.G107fs	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	122					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AACAGCCAGGACTGAAACCTT	0.507											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	122	---	---	---	---					
MIRLET7DHG	158257	broad.mit.edu	37	9	96941099	96941100	+	RNA	INS	-	-	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr9:96941099_96941100insA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						AGACCAGCAAGAAAAAAAAAAT	0.376													6	11	---	---	---	---					
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs71141752		TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.550													5	4	---	---	---	---					
MRI1	84245	broad.mit.edu	37	19	13879419	13879419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr19:13879419delT	ENST00000040663.6	+	4	632	c.592delT	c.(592-594)tcfs	p.F198fs	MRI1_ENST00000319545.8_Intron	NM_001031727.2	NP_001026897.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	198					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGAGCATGCCTTCTGCACAGA	0.657													2	4	---	---	---	---					
SNX21	90203	broad.mit.edu	37	20	44462578	44462578	+	Splice_Site	DEL	A	A	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr20:44462578delA	ENST00000491381.1	+	1	88	c.21_splice	c.e1+1	p.E7_splice	SNX21_ENST00000372542.1_5'UTR|SNX21_ENST00000462307.1_Splice_Site_p.E7_splice|SNX21_ENST00000342644.5_Splice_Site_p.E7_splice			Q969T3	SNX21_HUMAN	sorting nexin family member 21	7					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GGGACGCAGGAGGTAGAGGCG	0.726													2	4	---	---	---	---