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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NCOA2	10499	broad.mit.edu	37	8	71126273	71126273	+	Missense_Mutation	SNP	C	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.chr8:71126273C>T	uc003xyn.1	-	3	286	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	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"""									92			8		0	0	2.17888e-05	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	G	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	uc003vwc.4	-	10	1467	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(49)|p.G469V(30)|p.G469E(12)|p.G469S(12)|p.G469R(7)|p.F468S(1)|p.F468C(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)	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					88			10		0	0	2.17888e-05	0	0
CD1D	912	broad.mit.edu	37	1	158151871	158151871	+	Silent	SNP	C	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.chr1:158151871C>T	uc001frr.3	+	3	877	c.378C>T	c.(376-378)aaC>aaT	p.N126N	CD1D_uc009wsr.1_Silent_p.N126N|CD1D_uc009wss.3_Silent_p.N126N|CD1D_uc009wst.1_Silent_p.N22N	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	126					T cell selection|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	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														147			10		0	0	3.86212e-05	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	G	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	uc021ppc.1	+	6	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_uc001iza.1_Missense_Mutation_p.P319A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	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														65			5		0	0	1.23904e-05	0	0
ZC3H15	55854	broad.mit.edu	37	2	187366076	187366077	+	Missense_Mutation	DNP	CC	AA	AA			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.chr2:187366076_187366077CC>AA	uc002upo.3	+	3	591_592	c.366_367CC>AA	c.(364-369)tcccat>tcAAat	p.H123N		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	123						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTAAGTTCTCCCATGACTTGAC	0.366000														136			10		0	0	6.4e-05	0	0
ZNF304	57343	broad.mit.edu	37	19	57869182	57869182	+	Missense_Mutation	SNP	G	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.chr19:57869182G>T	uc010etw.3	+	3	2474	c.2086G>T	c.(2086-2088)Ggt>Tgt	p.G696C	ZNF304_uc010ygw.2_Missense_Mutation_p.G649C|ZNF304_uc010etx.3_Missense_Mutation_p.G607C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	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														96			8		2.17888e-05	0.00381992	2.17888e-05	1	0
SYBU	55638	broad.mit.edu	37	8	110590244	110590244	+	Missense_Mutation	SNP	C	G	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	uc010mcp.3	-	6	1099	c.737G>C	c.(736-738)cGt>cCt	p.R246P	SYBU_uc003yni.4_Missense_Mutation_p.R243P|SYBU_uc003ynk.4_Missense_Mutation_p.R127P|SYBU_uc003ynj.4_Missense_Mutation_p.R246P|SYBU_uc010mco.3_Missense_Mutation_p.R245P|SYBU_uc003ynl.4_Missense_Mutation_p.R245P|SYBU_uc010mcq.3_Missense_Mutation_p.R246P|SYBU_uc003yno.4_Missense_Mutation_p.R127P|SYBU_uc010mcr.3_Missense_Mutation_p.R246P|SYBU_uc003ynm.4_Missense_Mutation_p.R245P|SYBU_uc003ynn.4_Missense_Mutation_p.R245P|SYBU_uc010mcs.3_Missense_Mutation_p.R127P|SYBU_uc010mct.3_Missense_Mutation_p.R246P|SYBU_uc010mcu.3_Missense_Mutation_p.R245P|SYBU_uc003ynp.4_Missense_Mutation_p.R178P|SYBU_uc010mcv.3_Missense_Mutation_p.R246P|SYBU_uc003ynh.4_Missense_Mutation_p.R40P|SYBU_uc011lhw.2_Missense_Mutation_p.R116P	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	246	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|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														107			6		0	0	1.12685e-05	0	0
TG	7038	broad.mit.edu	37	8	133899181	133899181	+	Missense_Mutation	SNP	C	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.chr8:133899181C>T	uc003ytw.3	+	8	1605	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	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														60			5		0	0	1.23904e-05	0	0
MIR1246	100302142	broad.mit.edu	37	2	177465771	177465771	+	RNA	SNP	C	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.chr2:177465771C>A	uc021vss.1	-	0		c.10G>T								Homo sapiens microRNA 1246 (MIR1246), microRNA.																		aAAATCCATTCAAGGATACAA	0.403000														75			8		6.5536e-12	1.28412e-09	5.18039e-06	1	0
ZNF415	55786	broad.mit.edu	37	19	53612607	53612607	+	Missense_Mutation	SNP	T	C	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	uc002qax.3	-	6	1184	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	ZNF415_uc010yds.2_Missense_Mutation_p.M231V|ZNF415_uc010ydt.2_Missense_Mutation_p.M231V|ZNF415_uc002qau.3_Missense_Mutation_p.M218V|ZNF415_uc002qav.3_Missense_Mutation_p.M243V|ZNF415_uc002qaw.3_Missense_Mutation_p.M231V|ZNF415_uc002qay.3_Missense_Mutation_p.M218V|ZNF415_uc002qaz.3_Missense_Mutation_p.M279V|ZNF415_uc002qba.3_Missense_Mutation_p.M1V			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	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														92			7		0	0	2.17888e-05	0	0
CDK19	23097	broad.mit.edu	37	6	110943346	110943346	+	Missense_Mutation	SNP	G	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.chr6:110943346G>A	uc003puh.1	-	10	1128	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	CDK19_uc003pui.1_Missense_Mutation_p.P292L|CDK19_uc011eax.1_Missense_Mutation_p.P228L	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	352							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTTGGGGTATGGAATCTGGCA	0.343000														141			7		0	0	1.12685e-05	0	0
USH2A	7399	broad.mit.edu	37	1	215955459	215955459	+	Missense_Mutation	SNP	C	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.chr1:215955459C>A	uc001hku.1	-	53	11052	c.10665G>T	c.(10663-10665)gaG>gaT	p.E3555D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	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)				49			9		1.12685e-05	0.0020853	1.12685e-05	1	0
BEGAIN	57596	broad.mit.edu	37	14	101004687	101004687	+	Silent	SNP	G	C	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	uc010txa.2	-	5	1547	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	BEGAIN_uc001yhp.3_Silent_p.L403L|BEGAIN_uc001yhq.3_Silent_p.L467L	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	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														15			3		0	0	2.56e-06	0	0
TOR3A	64222	broad.mit.edu	37	1	179064224	179064224	+	Missense_Mutation	SNP	G	C	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	uc001gmd.3	+	5	1217	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	TOR3A_uc010pnd.2_Missense_Mutation_p.E139D	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	Homo sapiens torsin family 3, member A (TOR3A), mRNA.	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														79			5		0	0	1.23904e-05	0	0
COL21A1	81578	broad.mit.edu	37	6	56044546	56044546	+	Missense_Mutation	SNP	G	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.chr6:56044546G>A	uc003pcs.3	-	2	702	c.470C>T	c.(469-471)gCa>gTa	p.A157V	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.A157V|COL21A1_uc003pcu.1_Missense_Mutation_p.A157V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	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														39			5		0	0	3.59834e-05	0	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	C	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	uc002dfm.3	-	12	2000	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_uc010bwb.3_Missense_Mutation_p.H406R	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	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														18			4		0	0	2.56e-06	0	0
EVC2	132884	broad.mit.edu	37	4	5620263	5620263	+	Missense_Mutation	SNP	G	A	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	uc003gij.3	-	14	2702	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	EVC2_uc003gik.3_Missense_Mutation_p.A803V|EVC2_uc011bwb.2_Missense_Mutation_p.A323V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	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														35			5		0	0	1.23904e-05	0	0
C10orf81	79949	broad.mit.edu	37	10	115531817	115531817	+	Missense_Mutation	SNP	A	C	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	uc001lat.2	+	6	1185	c.623A>C	c.(622-624)cAt>cCt	p.H208P	C10orf81_uc009xyc.2_Missense_Mutation_p.H126P|C10orf81_uc001lar.2_Missense_Mutation_p.H214P|C10orf81_uc001las.2_Missense_Mutation_p.H126P|C10orf81_uc001lau.2_Missense_Mutation_p.H28P	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	208										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GAAGAGAATCATTATCTTACT	0.368000														76			7		0	0	5.18039e-06	0	0
MOBP	4336	broad.mit.edu	37	3	39543982	39543983	+	Frame_Shift_Ins	INS	-	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.chr3:39543982_39543983insA	uc003cjv.3	+	3	485_486	c.235_236insA	c.(235-237)ggafs	p.G79fs	MOBP_uc003cju.3_Intron|MOBP_uc003cjw.3_Intron|MOBP_uc010hht.3_Intron|MOBP_uc003cjx.3_Intron|MOBP_uc003cjy.3_Intron	NM_182935	NP_891980	Q13875	MOBP_HUMAN	Homo sapiens myelin-associated oligodendrocyte basic protein (MOBP), mRNA.	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													---	4	---	---	2	---					
ATR	545	broad.mit.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	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	uc003eux.4	-	9	2442	c.2320delA	c.(2320-2322)atafs	p.I774fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	774					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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(2)		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					---	139	---	---	7	---					
AMBN	258	broad.mit.edu	37	4	71467206	71467206	+	Frame_Shift_Del	DEL	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	uc003hfl.3	+	5	467	c.366delA	c.(364-366)ggafs	p.G122fs		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	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)	---	122	---	---	7	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			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.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	5	---	---	3	---					
MRI1	84245	broad.mit.edu	37	19	13879419	13879419	+	Frame_Shift_Del	DEL	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	uc002mxe.3	+	3	658	c.592delT	c.(592-594)ttcfs	p.F198fs	MRI1_uc002mxf.3_Intron	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	198					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGAGCATGCCTTCTGCACAGA	0.657													---	4	---	---	2	---					
SNX21	90203	broad.mit.edu	37	20	44462578	44462578	+	Splice_Site	DEL	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	uc002xpv.1	+	1	110	c.21_splice	c.e1+1	p.E7_splice	SNX21_uc002xpt.1_Splice_Site_p.E7_splice|SNX21_uc002xps.1_Splice_Site_p.E7_splice|SNX21_uc002xpu.1_Splice_Site_p.E7_splice|SNX21_uc002xpw.1_Splice_Site|SNX21_uc010zxd.1_5'Flank|SNX21_uc002xpy.1_5'Flank	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	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													---	4	---	---	2	---					
