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
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622000													3	52					0	0	0.004482	0	0
GPR87	0	broad.mit.edu	37	3	151012084	151012084	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:151012084A>G	ENST00000260843.4	-	3	1414	c.950T>C	c.(949-951)aTg>aCg	p.M317T	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	317						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACCTACACATGAAAAAGTA	0.358000													53	58					0	0	0.003610	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													4	20					0	0	0.000602	0	0
VWF	7450	broad.mit.edu	37	12	6105204	6105204	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr12:6105204G>T	ENST00000261405.5	-	35	6281	c.6027C>A	c.(6025-6027)caC>caA	p.H2009Q		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2009	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGAGGGCACTGTGCTTCACCT	0.522000													19	26					6.94344e-10	1.19352e-08	0.006122	1	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		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.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			64	106					5.73332e-34	1.01289e-32	0.003610	1	0
PROS1	5627	broad.mit.edu	37	3	93624630	93624630	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:93624630T>A	ENST00000394236.3	-	6	915	c.599A>T	c.(598-600)aAa>aTa	p.K200I	PROS1_ENST00000407433.1_Missense_Mutation_p.K69I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	200	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCTCTTACCTTTACAATCTTT	0.303000													18	32					0	0	0.006122	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													3	62					0	0	0.000248	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													6	92					0	0	0.000978	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	70					0	0	0.004672	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													2	9					0	0	0.000248	0	0
SCEL	8796	broad.mit.edu	37	13	78176241	78176241	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr13:78176241C>G	ENST00000535157.1	+	15	1063	c.893C>G	c.(892-894)aCt>aGt	p.T298S	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.T300S|SCEL_ENST00000349847.3_Missense_Mutation_p.T320S|SCEL_ENST00000469982.1_3'UTR|SCEL-AS1_ENST00000457528.2_RNA	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	320	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AATCAAAGGACTGACAAAAAT	0.393000													7	29					0	0	0.003080	0	0
HMCN1	83872	broad.mit.edu	37	1	186122946	186122946	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:186122946T>C	ENST00000271588.4	+	97	15312	c.15083T>C	c.(15082-15084)tTc>tCc	p.F5028S	HMCN1_ENST00000367492.2_Missense_Mutation_p.F5028S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5028	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCCGGCTGTTCACCATTGAT	0.463000													17	35					0	0	0.004007	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													3	125					0	0	0.001984	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													6	65					0	0	0.001168	0	0
WASH3P	0	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642000													7	60					0	0	0.006214	0	0
OR5T2	219464	broad.mit.edu	37	11	56000018	56000018	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr11:56000018C>T	ENST00000313264.4	-	1	719	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACAAAAGACACGCCTAATTTC	0.433000													7	112					0	0	0.001984	0	0
ARID1B	57492	broad.mit.edu	37	6	157527496	157527496	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr6:157527496G>A	ENST00000346085.5	+	20	5222	c.5221G>A	c.(5221-5223)Gac>Aac	p.D1741N	ARID1B_ENST00000367148.1_Missense_Mutation_p.D1781N|ARID1B_ENST00000350026.5_Missense_Mutation_p.D1728N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1723N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1728					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TATTGATGACGACGAGGAAGA	0.537000													7	181					0	0	0.001984	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													7	165					0	0	0.001984	0	0
SDHAP1	0	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													4	38					0	0	0.000248	0	0
STAG3	10734	broad.mit.edu	37	7	99796515	99796515	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr7:99796515C>T	ENST00000426455.1	+	14	1809	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	STAG3_ENST00000317296.5_Missense_Mutation_p.R468C|STAG3_ENST00000394018.2_Missense_Mutation_p.R410C|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	468					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.R468C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAGAGCAACGCCAGAGCCC	0.537000													35	65					0	0	0.003755	0	0
PIGS	94005	broad.mit.edu	37	17	26882008	26882008	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr17:26882008A>G	ENST00000308360.7	-	11	1628	c.1253T>C	c.(1252-1254)cTa>cCa	p.L418P	PIGS_ENST00000543734.1_Missense_Mutation_p.L357P|PIGS_ENST00000395346.2_Missense_Mutation_p.L410P	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	418					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGTCATTAGCCCTTCACT	0.587000													3	54					0	0	0.004672	0	0
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													2	4	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													5	10	---	---	---	---					
ZNF219	0	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
