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
CTH	1491	broad.mit.edu	37	1	70904459	70904459	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr1:70904459G>C	ENST00000411986.2	+	10	1243	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CTH_ENST00000346806.2_Missense_Mutation_p.E337Q|CTH_ENST00000370938.3_Missense_Mutation_p.E381Q	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	381					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGTGGGCTTAGAGGATGAGGA	0.428000													28	14					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	48					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45797661	45797661	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:45797661C>T	ENST00000300843.4	+	14	1846	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	MARK4_ENST00000262891.4_Missense_Mutation_p.R517C	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	517					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGCACAGAACGCCCGGGGGC	0.592000													26	38					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332450	100332450	+	RNA	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:100332450C>T	ENST00000341853.1	-	0	1741					NR_003260.1																						AGGGAGCGAGCGGAGAAACTA	0.587000													4	77					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98586584	98586584	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr7:98586584G>A	ENST00000359863.4	+	62	9807	c.9598G>A	c.(9598-9600)Gcc>Acc	p.A3200T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3200	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAATACTTAGCCAAGGTGAG	0.522000													4	13					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202503	140202503	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr5:140202503C>A	ENST00000529859.1	+	1	1143	c.1143C>A	c.(1141-1143)aaC>aaA	p.N381K	PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.577000													4	93					2.56e-06	2.72516e-06	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15290911	15290911	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:15290911C>T	ENST00000263388.2	-	20	3374	c.3299G>A	c.(3298-3300)cGt>cAt	p.R1100H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1100	EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATATAGCCACGGCAGGTCCC	0.642000													11	26					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74706922	74706922	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:74706922G>A	ENST00000261918.4	-	10	1808	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	SEMA7A_ENST00000543145.2_Silent_p.H406H|SEMA7A_ENST00000542748.1_Silent_p.H255H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	420	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGGTCTCCCCGTGGCTGGCTT	0.537000													8	134					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76510973	76510973	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:76510973G>A	ENST00000389840.5	-	26	4108	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	DNAH17_ENST00000585328.1_Silent_p.A1329A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCCACGAAGGCATCCCAGG	0.532000													8	93					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	76					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44673018	44673018	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:44673018C>T	ENST00000299957.6	+	8	1215	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	CASC4_ENST00000345795.2_Missense_Mutation_p.H306Y|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	306						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACACATAAACCACAATGGAAA	0.343000													20	24					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64184482	64184482	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:64184482G>A	ENST00000295902.6	-	2	707	c.122C>T	c.(121-123)cCg>cTg	p.P41L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P97L|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	41	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAGACCCGGCGGGACCCAGGC	0.512000													18	39					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915576	23915576	+	Silent	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr22:23915576G>A	ENST00000330377.2	-	3	636	c.519C>T	c.(517-519)taC>taT	p.Y173Y	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	173	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTGGCCGCGTACTTGTTGT	0.607000													26	56					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34099388	34099388	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:34099388G>A	ENST00000397527.1	+	35	7982	c.7262G>A	c.(7261-7263)aGt>aAt	p.S2421N	CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2421					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGACTCAAAGTCTGACATCC	0.632000													13	17					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531452	42531452	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:42531452G>A	ENST00000282030.5	+	4	2443	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	716						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTAATGTCAGCAAGAGGGGA	0.567000									Schinzel-Giedion syndrome				3	29					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													3	60					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62124546	62124546	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr11:62124546A>G	ENST00000415229.2	+	4	636	c.421A>G	c.(421-423)Aca>Gca	p.T141A	ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A|ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	141					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAAACTGGTGACAGAGAGAAA	0.463000													20	26					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140693307	140693307	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr9:140693307G>C	ENST00000460843.1	+	17	2575	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	850					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCCAAGAAAGGCCACTACGA	0.532000													18	41					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50329586	50329586	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:50329586G>A	ENST00000338821.5	-	4	619	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	119					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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCGCCTCACGGATGACAGTG	0.622000													3	22					0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr10:5995110C>A	ENST00000525219.2	-	7	938	c.644G>T	c.(643-645)tGg>tTg	p.W215L	IL15RA_ENST00000379977.3_Missense_Mutation_p.W251L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	251					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557000													6	64					0.00116845	0.00116845	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883997	228883997	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr2:228883997C>A	ENST00000392056.3	-	7	1619	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	525						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTTCGAGACCACTTGCTCC	0.507000													3	51					0.00024832	0.00025608	1	1	0
ATR	545	broad.mit.edu	37	3	142281438	142281438	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:142281438A>G	ENST00000350721.4	-	4	927	c.806T>C	c.(805-807)tTt>tCt	p.F269S	ATR_ENST00000383101.3_Missense_Mutation_p.F269S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	269					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			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						TGAGCTGAAAAAAGTGCTAGC	0.358000								Other conserved DNA damage response genes					23	44					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473705	52473705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr16:52473705A>T	ENST00000219746.9	-	7	1447	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	388					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTCATGGTTAAGGGTTTGGG	0.517000													9	165					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138460	18138460	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:18138460A>G	ENST00000316843.4	+	10	1214	c.1118A>G	c.(1117-1119)gAc>gGc	p.D373G		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	373					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTGGTGCTGGACCTGCAGACT	0.652000													4	18					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32843786	32843786	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:32843786A>G	ENST00000311921.3	+	2	242	c.50A>G	c.(49-51)cAg>cGg	p.Q17R	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATTGGGGAACAGGAAGCTATA	0.358000													23	49					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56411728	56411728	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:56411728G>A	ENST00000348428.3	+	15	2169		c.e15+1		MALT1_ENST00000345724.3_Splice_Site|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1						activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTTCCACTTGTGAGTCTCTT	0.289000			T	BIRC3	MALT								17	42					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018282	61018282	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:61018282C>T	ENST00000406396.3	-	6	839	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	150					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTGGGGTACACGCTGCCCAGG	0.547000													4	74					0	0	1	0	0
RP11-340I6.7	0	broad.mit.edu	37	7	63351433	63351433	+	RNA	DEL	G	G	-			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr7:63351433delG	ENST00000587736.1	-	0	688																											TGCCCCCTCTGGGCAGGTTCC	0.612													2	4	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29676174	29676177	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:29676174_29676177delCAGT	ENST00000358273.4	+	49	7609_7612	c.7226_7229delCAGT	c.(7225-7230)acfs	p.TV2409fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2409					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTGCAAGAACAGTCAGAATTTTA	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	2	---	---	---	---