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
HMGCS2	3158	broad.mit.edu	37	1	120302609	120302609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:120302609C>T	uc001eid.3	-	2	651	c.563G>A	c.(562-564)cGt>cAt	p.R188H	HMGCS2_uc010oxj.2_Intron|HMGCS2_uc021osw.1_5'Flank|HMGCS2_uc021osx.1_Missense_Mutation_p.R96H	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	188					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R188H(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CATGGCATAACGACCTGTAAA	0.488000													26	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056757	9056757	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:9056757G>T	uc002mkp.3	-	2	30893	c.30689C>A	c.(30688-30690)cCc>cAc	p.P10230H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10232	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5863H(1)|p.P10230H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATTAAAGGGGGTGATTAT	0.448000													10	94					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794944	242794944	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:242794944G>T	uc002wcq.4	-	1	333	c.265C>A	c.(265-267)Ccc>Acc	p.P89T	PDCD1_uc010fzs.3_Missense_Mutation_p.P20T|PDCD1_uc010fzt.3_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	89	Ig-like V-type.				T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	p.P89T(6)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TCCTGGCCGGGCTGGCTGCGG	0.642000													7	38					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035897	56035897	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:56035897C>A	uc003pcs.3	-	3	902	c.670G>T	c.(670-672)Gca>Tca	p.A224S	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.A224S|COL21A1_uc003pcu.1_Missense_Mutation_p.A224S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	224					cell adhesion	collagen|cytoplasm	structural molecule activity	p.A224S(3)		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)			TCACGAGCTGCCACTGGAATT	0.318000													36	92					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2698620	2698620	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:2698620C>G	uc003smp.3	+	12	1658	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	TTYH3_uc010ksn.3_Missense_Mutation_p.L211V|TTYH3_uc003smq.3_Missense_Mutation_p.L320V	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	491						chloride channel complex|plasma membrane	chloride channel activity	p.L491V(2)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAACACCCCACTCATTGGGCG	0.647000													16	175					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249334	52249334	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:52249334C>A	uc021uyn.1	-	2	1060	c.914G>T	c.(913-915)gGc>gTc	p.G305V	FPR1_uc002pxq.3_Missense_Mutation_p.G305V|FPR1_uc021uyo.1_Missense_Mutation_p.G305V	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	305					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.G305V(2)|p.M304I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GAAGTCCTGGCCCATGAAGAC	0.547000													26	86					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431329	135431329	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chrX:135431329C>A	uc004ezu.1	+	5	5755	c.5464C>A	c.(5464-5466)Cca>Aca	p.P1822T	GPR112_uc010nsb.1_Missense_Mutation_p.P1617T|GPR112_uc010nsc.1_Missense_Mutation_p.P1589T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1822					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1822T(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATACCCTCCATGGACCCC	0.408000													15	143					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93524064	93524064	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:93524064G>C	uc002bsp.3	+	22	3471	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CHD2_uc002bso.1_Missense_Mutation_p.E966Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	966	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E966Q(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTTAATAAAGAAGAGCTGAC	0.368000													12	105					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67477178	67477178	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:67477178G>T	uc002aqj.3	+	6	1283	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	SMAD3_uc010ujr.2_Missense_Mutation_p.A224S|SMAD3_uc010ujs.2_Missense_Mutation_p.A285S|SMAD3_uc010ujt.2_Missense_Mutation_p.A134S	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	329	MH2.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.A329S(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGGCACCCGGCCACCGTCTG	0.597000													7	36					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86916415	86916415	+	Splice_Site	SNP	C	C	T	rs140158852		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:86916415C>T	uc001dlr.4	+	12	2317	c.2155_splice	c.e12+1	p.G719_splice		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	719					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.N718N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACACAGCAAACGGTAAGAACC	0.448000													31	203					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148935	25148935	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:25148935C>T	uc001rgf.3	-	2	418	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	71								p.T71T(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGTCCAGCGTCTGCACGT	0.478000													29	55					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124752018	124752018	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:124752018C>A	uc011lyl.2	-	3	1183	c.995G>T	c.(994-996)tGg>tTg	p.W332L	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.W9L|TTLL11_uc004blt.1_Missense_Mutation_p.W332L|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	332	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.W332L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGTGGGCTTCCAGGAGGGGTC	0.512000													66	240					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124395093	124395093	+	Silent	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:124395093G>A	uc001uft.4	+	57	9679	c.9654G>A	c.(9652-9654)aaG>aaA	p.K3218K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3218	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1810K(1)|p.K3218K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCTTGAAGACTCTTAATA	0.388000													12	219					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104552115	104552115	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:104552115G>A	uc001yop.2	+	0	93	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ASPG_uc001yoo.2_5'UTR|ASPG_uc001yoq.2_Missense_Mutation_p.R3H|ASPG_uc001yor.2_Missense_Mutation_p.R3H	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	3					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.R3H(2)|p.A2S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGGCGCGCGCGGTGGGG	0.761000													4	2					0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161168	90161168	+	Missense_Mutation	SNP	T	T	G	rs8055740		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr16:90161168T>G	uc002fqq.3	+	2	398	c.398T>G	c.(397-399)cTc>cGc	p.L133R	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		CCTCCTGTCCTCCGAGTCGAG	0.622000													4	1					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:85719250C>T	uc003hpd.3	-	17	3242	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	945						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R945H(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313000													60	145					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61864525	61864525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:61864525T>C	uc002jbu.3	+	2	373	c.116T>C	c.(115-117)tTt>tCt	p.F39S	DDX42_uc002jbv.3_Missense_Mutation_p.F39S	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	39					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.F39S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CACAGTGCCTTTGGGGCAACC	0.502000													15	222					0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42085837	42085837	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:42085837C>T	uc010czn.3	+	6	1497	c.1497C>T	c.(1495-1497)ggC>ggT	p.G499G	NAGS_uc002ies.3_Silent_p.G491G|NAGS_uc002iet.3_Silent_p.G115G	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	491	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	p.G491G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	ACAGTGATGGCAGCTTCTCCA	0.498000													27	320					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185880818	185880818	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:185880818A>C	uc001grq.1	+	5	1035	c.806A>C	c.(805-807)aAa>aCa	p.K269T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	269					response to stimulus|visual perception	basement membrane	calcium ion binding	p.K269T(2)		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						AAGCTGATAAAAAAGGGATTT	0.393000													24	389					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31477560	31477560	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:31477560G>T	uc003ntn.4	+	6	1141	c.1025_splice	c.e6-1	p.E342_splice	MICB_uc011dnm.2_Splice_Site_p.E310_splice|MICB_uc003nto.4_Splice_Site_p.E299_splice	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	342					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding	p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522000													30	136					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359460	72359460	+	Missense_Mutation	SNP	C	C	T	rs148075682		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:72359460C>T	uc002sih.1	-	5	1435	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	CYP26B1_uc010yra.1_Missense_Mutation_p.V462I|CYP26B1_uc010yrb.1_Missense_Mutation_p.V404I	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	479			V -> I.		cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V479I(4)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCAGGACGGGGACCAAG	0.642000													3	27					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914419	215914419	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:215914419G>T	uc002vew.3	-	5	844	c.624C>A	c.(622-624)aaC>aaA	p.N208K	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	208					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N208K(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCAAAATTTGTTAAAAACAT	0.383000													28	103					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41860444	41860444	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:41860444G>A	uc001zof.2	+	7	1227	c.991G>A	c.(991-993)Gcc>Acc	p.A331T		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	331	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A331T(1)|p.A323T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACCTCCATGCCATCCGCAC	0.572000													17	74					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:151845693T>C	uc003wla.3	-	51	13538	c.13319A>G	c.(13318-13320)tAt>tGt	p.Y4440C	MLL3_uc003wkz.3_Missense_Mutation_p.Y3558C|MLL3_uc003wkx.3_Missense_Mutation_p.Y598C|MLL3_uc003wky.3_Missense_Mutation_p.Y2004C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4440					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Y4440C(2)|p.Y4497C(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGAGTCTCATAGACCTCCGT	0.507000			N		medulloblastoma								70	195					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792754	38792754	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:38792754T>C	uc002hux.2	-	5	386	c.262A>G	c.(262-264)Aac>Gac	p.N88D	SMARCE1_uc010wff.1_Missense_Mutation_p.N53D|SMARCE1_uc010wfg.1_Missense_Mutation_p.N18D|SMARCE1_uc002huy.2_Missense_Mutation_p.N53D|SMARCE1_uc010wfh.1_Missense_Mutation_p.N18D|SMARCE1_uc010wfi.1_Missense_Mutation_p.N70D|SMARCE1_uc010wfj.1_Missense_Mutation_p.N70D	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	88					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity	p.N88D(1)		large_intestine(1)	1		Breast(137;0.000812)				AGGTCAGGGTTGGAAGCCTTT	0.363000													68	179					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483619	19483619	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr5:19483619C>T	uc003jgd.3	-	11	2207	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.R558Q|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R558L(3)|p.R558Q(3)|p.R558*(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGAACAGTTCGACTAAATCT	0.458000													20	81					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211421556	211421556	+	Silent	SNP	A	A	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:211421556A>G	uc010fur.3	+	1	199	c.117A>G	c.(115-117)agA>agG	p.R39R	CPS1_uc002vee.4_Silent_p.R33R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R33R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AATTTTCAAGACCTGGCATCA	0.403000													13	235					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591238	54591238	+	Silent	SNP	G	G	A	rs149456946	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr18:54591238G>A	uc002lgk.1	+	21	3823	c.3612G>A	c.(3610-3612)ctG>ctA	p.L1204L	WDR7_uc002lgl.1_Silent_p.L1171L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1204								p.L1204L(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCATTGATCTGATTGGACGTG	0.498000													10	122					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121303769	121303769	+	Missense_Mutation	SNP	C	C	T	rs149102809		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr3:121303769C>T	uc003eef.3	+	3	321	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R76W(2)|p.R76L(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGAAGCAATACGGAGAAGGCA	0.423000													111	338					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105861	151105861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:151105861C>T	uc001ewv.3	-	19	2324	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	SEMA6C_uc001ewu.3_Missense_Mutation_p.R631H|SEMA6C_uc001eww.3_Missense_Mutation_p.R623H	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	631	Poly-Pro.					integral to membrane	receptor activity	p.R631H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGTGGGCGCGGCGACAAGC	0.716000													3	24					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160706545	160706545	+	Silent	SNP	C	C	T	rs114924959	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:160706545C>T	uc002ubb.4	-	22	3170	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	LY75-CD302_uc010fos.3_Silent_p.T1032T|LY75-CD302_uc002ubc.4_Silent_p.T1032T	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1032	C-type lectin 6.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.T1032T(1)									AGTTACTGTACGTCAGCTCTC	0.383000													20	274					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735357	54735357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:54735357G>A	uc003pck.3	+	1	429	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	105								p.D105N(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCAAATCTTGACTTAGGCTG	0.463000													114	216					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35444194	35444194	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:35444194G>A	uc003oku.4	-	8	847	c.611C>T	c.(610-612)cCg>cTg	p.P204L	TEAD3_uc003okt.3_Missense_Mutation_p.P93L|TEAD3_uc010jvx.3_Missense_Mutation_p.P144L	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	204	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGAGGGGAGCGGGGCCAGGGG	0.607000													12	164					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:3138037G>A	uc021xkv.1	+	20	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	928					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.A928T(2)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATGTTGCCGCAGCATCACT	0.378000													5	105					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51223295	51223295	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:51223295C>T	uc001wyi.3	-	17	4644	c.4453G>A	c.(4453-4455)Gga>Aga	p.G1485R	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.G1485R|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.G1485R	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1485					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding	p.G1491R(1)|p.G1485R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tccttttctccgtgagaaagt	0.413000			T	PDGFRB	MPD								4	59					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846113	18846113	+	RNA	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr22:18846113C>T	uc002zoe.3	+	4		c.2475C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ATCTCCTCCACGCACTGGCGC	0.612000													4	39					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660643	125660643	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:125660643T>A	uc010flu.3	+	21	3985	c.3621T>A	c.(3619-3621)gaT>gaA	p.D1207E	CNTNAP5_uc002tno.3_Missense_Mutation_p.D1206E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1206					cell adhesion|signal transduction	integral to membrane	receptor binding	p.D1206E(3)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGACTCAGATGTGAATGCAG	0.532000													15	15					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975445	32975445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:32975445T>C	uc001rlj.4	-	8	2042	c.1927A>G	c.(1927-1929)Aaa>Gaa	p.K643E	PKP2_uc001rlk.4_Missense_Mutation_p.K599E|PKP2_uc010skj.2_Missense_Mutation_p.K599E	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	643					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.K643E(2)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAATACTTTTGTTGTTGTCA	0.403000													11	125					0	0	1	0	0
C9orf100	84904	broad.mit.edu	37	9	35662635	35662635	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662635C>T	uc003zxm.1	-	6	889	c.777G>A	c.(775-777)aaG>aaA	p.K259K	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	259	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K259K(1)		endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGGCCGAGGCTTGGCCATGA	0.632000													20	23					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486051	94486051	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:94486051C>T	uc004arj.2	-	8	2924	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	909					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.V909M(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTTCCTGCACGGTGCTCTGG	0.637000													39	185					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807511	3807511	+	Silent	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:3807511G>A	uc001alf.3	-	2	347	c.240C>T	c.(238-240)agC>agT	p.S80S	C1orf174_uc009vls.3_Non-coding_Transcript	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	Homo sapiens chromosome 1 open reading frame 174 (C1orf174), mRNA.	80								p.S80S(2)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCAAAGAAGCGCTGTCATTCT	0.498000													71	144					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949669	17949669	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:17949669C>T	uc001ban.3	+	12	1359	c.1200_splice	c.e12+1	p.S400_splice	ARHGEF10L_uc009vpe.1_Splice_Site_p.S361_splice|ARHGEF10L_uc001bao.3_Splice_Site_p.S361_splice|ARHGEF10L_uc001bap.3_Splice_Site_p.S361_splice|ARHGEF10L_uc010ocr.1_Splice_Site_p.S158_splice|ARHGEF10L_uc001baq.3_Splice_Site_p.S166_splice|ARHGEF10L_uc010ocs.2_Splice_Site_p.S178_splice|ARHGEF10L_uc001bar.3_Splice_Site_p.S178_splice|ARHGEF10L_uc009vpf.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	400	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S400L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTCGTGGCCTCGGTAAGTGTC	0.602000													30	71					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42762561	42762561	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr21:42762561G>A	uc002yzf.1	+	5	906	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	268					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.V268M(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557000													78	78					0	0	1	0	0
C9orf100	84904	broad.mit.edu	37	9	35662634	35662634	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662634G>T	uc003zxm.1	-	6	890	c.778C>A	c.(778-780)Cct>Act	p.P260T	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	260	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P260T(1)		endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCCGAGGCTTGGCCATG	0.632000													21	23					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673298	75673298	+	Splice_Site	DEL	A	-	-			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:75673298delA	uc001jwa.3	+	7	607	c.461_splice	c.e7-1	p.G154_splice	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Splice_Site_p.G137_splice|PLAU_uc010qkx.2_Splice_Site_p.G68_splice|PLAU_uc001jwb.3_Splice_Site|PLAU_uc001jwc.3_Splice_Site_p.G154_splice|PLAU_uc009xrq.1_Splice_Site_p.G118_splice	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	154	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTCCTCCAGGAAAAAAGCCCT	0.517													7	790	---	---	---	---					
ARHGAP11A	9824	broad.mit.edu	37	15	32920998	32921007	+	Splice_Site	DEL	GAATTGGTAG	-	-			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:32920998_32921007delGAATTGGTAG	uc001zgy.1	+	7	1659	c.937_splice	c.e7+1	p.A313_splice	ARHGAP11A_uc010ubw.1_Splice_Site_p.A124_splice|ARHGAP11A_uc001zgw.3_Splice_Site_p.A313_splice|ARHGAP11A_uc010ubx.1_Splice_Site_p.A124_splice	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	313					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A313P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAGAAGAAAGAATTGGTAGGTATTTATTA	0.238													13	141	---	---	---	---					
ATP8B4	79895	broad.mit.edu	37	15	50193367	50193368	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:50193367_50193368insT	uc001zxu.3	-	20	2352_2353	c.2210_2211insA	c.(2209-2211)aagfs	p.K737fs	ATP8B4_uc010ber.3_Frame_Shift_Ins_p.K610fs|ATP8B4_uc010ufd.2_Frame_Shift_Ins_p.K547fs|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Frame_Shift_Ins_p.K35fs	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	737					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361													7	178	---	---	---	---					
