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
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532000													3	43					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993057	96993057	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:96993057C>T	ENST00000361124.4	+	1	1123	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.H230Y	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	230						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAACCCTCCATGAGACCCA	0.602000													13	39					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382875	22382875	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr15:22382875G>C	ENST00000328795.4	+	1	494	c.403G>C	c.(403-405)Gtc>Ctc	p.V135L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTTCAACTGTCATGAACCC	0.527000													51	36					0	0	1	0	0
IGLV3-22	0	broad.mit.edu	37	22	23047197	23047197	+	RNA	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr22:23047197C>T	ENST00000390307.2	+	0	299																											AATCCCTGAACGATTCTCTGG	0.547000													8	29					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	100					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214811277	214811277	+	Silent	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:214811277G>A	ENST00000366955.3	+	11	1683	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	505					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTGCCACCTGGAGGCAGAAC	0.373000													20	27					0	0	1	0	0
EIF2S1	1965	broad.mit.edu	37	14	67850087	67850087	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:67850087T>C	ENST00000256383.4	+	8	1339	c.878T>C	c.(877-879)cTt>cCt	p.L293P	EIF2S1_ENST00000466499.2_Missense_Mutation_p.L293P	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	293						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ATGGAGAGGCTTGAAAGAGAA	0.418000													11	21					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100104284	100104284	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chrX:100104284T>C	ENST00000372966.3	-	11	1633	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Silent_p.G439G|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	476	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGCTGTCCCATCCGGTGAGGA	0.423000													17	15					0	0	1	0	0
EMP1	2012	broad.mit.edu	37	12	13367625	13367625	+	Nonstop_Mutation	SNP	A	A	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:13367625A>T	ENST00000256951.5	+	5	673	c.474A>T	c.(472-474)taA>taT	p.*158Y	EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Nonstop_Mutation_p.*91Y|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	0					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAAGAAATAAGGCCGGACGA	0.542000													3	72					0	0	1	0	0
COL21A1	0	broad.mit.edu	37	6	56035877	56035877	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:56035877T>C	ENST00000244728.5	-	4	1087	c.690A>G	c.(688-690)ggA>ggG	p.G230G	COL21A1_ENST00000370819.1_Silent_p.G230G|COL21A1_ENST00000535941.1_Silent_p.G230G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	230	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATATCAAATCCCCTTTCAT	0.318000													13	34					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71094403	71094403	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr9:71094403G>A	ENST00000396396.1	+	8	1458	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.R410Q(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTGCTGCCCGGAAGCAGAGT	0.532000													3	72					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537000													3	35					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:10401651G>A	ENST00000397077.1	-	12	2256	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577000													37	70					0	0	1	0	0
FUNDC2P2	0	broad.mit.edu	37	2	84517949	84517949	+	RNA	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:84517949G>A	ENST00000331369.5	+	0	143																											CGAAATGGCCGCGTCCAGTCA	0.587000													10	30					0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17998086	17998086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:17998086C>T	ENST00000281047.3	+	1	324	c.301C>T	c.(301-303)Cag>Tag	p.Q101*		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	101					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAGCTTTCCAGCCCACCCA	0.647000													7	30					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:87725923C>T	ENST00000305344.4	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	HTR1E_ENST00000369584.1_Missense_Mutation_p.R291C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	291					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R291C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAAGGCAGCACGCATCCTGGG	0.517000													36	67					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758123	15758123	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr19:15758123A>G	ENST00000221307.7	+	5	562	c.514A>G	c.(514-516)Aac>Gac	p.N172D	CYP4F3_ENST00000586182.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.N172D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	172					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAGAGTGTGAACATCATGCA	0.507000													37	85					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119213427	119213427	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:119213427C>T	ENST00000360167.4	-	9	1191	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.G422G|MFRP_ENST00000555262.1_Silent_p.G422G|MFRP_ENST00000530681.1_Silent_p.G422G					membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTCACTGGGCCCACAGGGGT	0.627000													16	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	7					0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90735788	90735788	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:90735788T>C	ENST00000261303.8	+	9	1032	c.929T>C	c.(928-930)tTg>tCg	p.L310S	PSMC1_ENST00000543772.2_Missense_Mutation_p.L237S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CGAACAATGTTGGAACTGCTG	0.413000													21	53					0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241513550	241513550	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:241513550C>T	ENST00000270357.3	+	5	859	c.266C>T	c.(265-267)cCa>cTa	p.P89L		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	89					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GTCTTCCTGCCACCCTCCTTC	0.627000													3	39					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209474	209474	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:209474T>A	ENST00000526104.1	+	3	1544	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RIC8A_ENST00000325207.5_Missense_Mutation_p.L67Q|RIC8A_ENST00000527696.1_Missense_Mutation_p.L61Q			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	67						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCATCTGGCTGCAGAGTGTC	0.647000													27	40					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	32					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26629355	26629355	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:26629355G>A	ENST00000314675.7	-	2	99	c.20C>T	c.(19-21)tCc>tTc	p.S7F	UBXN11_ENST00000357089.4_Missense_Mutation_p.S7F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S7F|UBXN11_ENST00000374222.1_Missense_Mutation_p.S7F|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Missense_Mutation_p.S7F|UBXN11_ENST00000535108.1_Intron	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	7						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTGCTAAGGGAGGCCAAAGG	0.567000													13	22					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								3	42					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37848860	37848860	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr4:37848860C>G	ENST00000381967.4	+	10	1326	c.1226C>G	c.(1225-1227)gCc>gGc	p.A409G	PGM2_ENST00000544359.1_Missense_Mutation_p.A270G|PGM2_ENST00000537241.1_Missense_Mutation_p.A249G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	409					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGAAACAGAGCCAAACAGCTA	0.383000													7	39					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215956215	215956215	+	Nonsense_Mutation	SNP	G	G	A	rs111033379		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:215956215G>A	ENST00000366943.2	-	53	10836	c.10450C>T	c.(10450-10452)Cga>Tga	p.R3484*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.R3484*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3484	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGTCCTCGCCCATAGCTG	0.443000										HNSCC(13;0.011)			5	54					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196649	74196649	+	Missense_Mutation	SNP	C	C	T	rs141337993		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:74196649C>T	ENST00000286523.5	-	4	2571	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V597M	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GGTTTCCGCACGGAAGGCTCC	0.587000													9	28					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323044	43323044	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:43323044T>C	ENST00000361428.2	-	4	2105	c.2028A>G	c.(2026-2028)ctA>ctG	p.L676L	ZNF318_ENST00000318149.3_Silent_p.L676L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	676					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCTGCTCTCTAGTCTGTGGG	0.542000													24	45					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7968910	7968910	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr19:7968910G>T	ENST00000545011.1	+	1	146	c.81G>T	c.(79-81)agG>agT	p.R27S	MAP2K7_ENST00000397983.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R27S			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	27					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCCGGCGGAGGATCGACCTCA	0.746000													3	2					2.56e-06	2.56e-06	1	1	0
RUNX3	864	broad.mit.edu	37	1	25245770	25245770	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:25245770C>A	ENST00000399916.1	-	4	985	c.547G>T	c.(547-549)Gcc>Tcc	p.A183S	RUNX3_ENST00000338888.3_Missense_Mutation_p.A183S|RUNX3_ENST00000308873.6_Missense_Mutation_p.A169S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A76S|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	169					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		ACCTTGATGGCTCGGTGGTAG	0.652000													8	39					1.06961e-07	1.0919e-07	1	1	0
NUP133	55746	broad.mit.edu	37	1	229625797	229625797	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:229625797G>A	ENST00000261396.3	-	9	1190	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	NUP133_ENST00000537506.1_Missense_Mutation_p.L351F|NUP133_ENST00000366679.1_Missense_Mutation_p.L367F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	367					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAATAGATGAGACATGGATTG	0.378000													6	49					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31289353	31289353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr16:31289353C>T	ENST00000544665.3	+	12	1350	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q427*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	427					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCTCGATATCAGCACATCGG	0.572000													4	10					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116435978	116435978	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr7:116435978G>A	ENST00000397752.3	+	21	4173	c.3973G>A	c.(3973-3975)Gaa>Aaa	p.E1325K	MET_ENST00000318493.6_Missense_Mutation_p.E1343K|MET_ENST00000539704.1_Missense_Mutation_p.E195K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1325	Interaction with MUC20.|Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.E1343K(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCTAAAGCCGAAATGCGCCC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				63	59					0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10350581	10350581	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:10350581G>A	ENST00000381786.3	+	4	627	c.338G>A	c.(337-339)aGa>aAa	p.R113K		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	113										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CCCTGTTTCAGAATGAAGTTA	0.577000													9	39					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56726617	56726617	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr4:56726617C>T	ENST00000381295.2	+	3	513	c.165C>T	c.(163-165)gtC>gtT	p.V55V	EXOC1_ENST00000349598.6_Silent_p.V55V|EXOC1_ENST00000346134.7_Silent_p.V55V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	55					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGGTCAAAGTCAAGAAATCCG	0.413000													13	55					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016184	27016184	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:27016184C>T	ENST00000318627.2	+	1	557	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	37						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACCACTACTTCGTGCCCGATG	0.582000													12	24					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366393	37366393	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:37366393A>G	ENST00000361924.2	+	14	3390	c.3016A>G	c.(3016-3018)Atg>Gtg	p.M1006V	GOLGA4_ENST00000356847.4_Missense_Mutation_p.M1028V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1006	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AATGCTGGAAATGGCACAGGC	0.388000													22	43					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	18					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56355130	56355130	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:56355130A>T	ENST00000548747.1	-	3	967	c.305T>A	c.(304-306)gTt>gAt	p.V102D	PMEL_ENST00000550447.1_Missense_Mutation_p.V65D|PMEL_ENST00000548493.1_Missense_Mutation_p.V102D|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.V102D|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.V102D|PMEL_ENST00000552882.1_Missense_Mutation_p.V102D|PMEL_ENST00000536427.1_Missense_Mutation_p.V102D|PMEL_ENST00000548689.1_5'UTR			P40967	PMEL_HUMAN	premelanosome protein	102					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCAGATAACCTGCCCATC	0.483000													27	36					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923861	226923861	+	Silent	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:226923861G>A	ENST00000429204.1	-	2	1626	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	ITPKB_ENST00000366784.1_Silent_p.G433G|ITPKB_ENST00000272117.3_Silent_p.G433G	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	433							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AACGCCCCCCGCCCACGGGGG	0.706000													14	16					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762129	30762129	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr22:30762129C>G	ENST00000405659.1	+	3	849	c.140C>G	c.(139-141)gCc>gGc	p.A47G	CCDC157_ENST00000399824.2_Missense_Mutation_p.A47G|CCDC157_ENST00000338306.3_Missense_Mutation_p.A47G			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	47										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GACCGCATGGCCTGTGACCTC	0.652000													34	72					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171753487	171753487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:171753487G>A	ENST00000361735.3	+	2	1027	c.761G>A	c.(760-762)tGg>tAg	p.W254*	METTL13_ENST00000458517.1_Nonsense_Mutation_p.W253*|METTL13_ENST00000362019.3_Nonsense_Mutation_p.W168*|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	254							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGTATGCCTGGCTGTGCAGC	0.667000													14	23					0	0	1	0	0
IL24	11009	broad.mit.edu	37	1	207072830	207072830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:207072830G>A	ENST00000367093.3	+	3	487	c.213G>A	c.(211-213)tgG>tgA	p.W71*	IL24_ENST00000391929.3_Nonsense_Mutation_p.W71*|IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.W70*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	70					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					AGAAACTGTGGGAAGCCTTCT	0.592000													19	58					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				3	6	---	---	---	---					
HSPD1P6	0	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													3	6	---	---	---	---					
LINC00971	0	broad.mit.edu	37	3	84741413	84741413	+	RNA	DEL	T	T	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:84741413delT	ENST00000484892.1	-	0	2354					NR_033860.1																						CTCATGGATGTTTTCCTCCTA	0.398													2	4	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													3	6	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32444350	32444352	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr5:32444350_32444352delGCC	ENST00000265069.8	-	2	222_224	c.120_122delGGC	c.(118-123)gct>gc	p.AA42del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	42	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGGgccgcagccgccgccgccg	0.680													2	4	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													7	61	---	---	---	---					
DMTF1	9988	broad.mit.edu	37	7	86808992	86808994	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr7:86808992_86808994delGTA	ENST00000394703.5	+	10	1214_1216	c.651_653delGTA	c.(649-654)att>at	p.MY217del	DMTF1_ENST00000331242.7_In_Frame_Del_p.MY217del|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_In_Frame_Del_p.MY217del|DMTF1_ENST00000432937.2_In_Frame_Del_p.MY129del|DMTF1_ENST00000394702.3_In_Frame_Del_p.MY217del|DMTF1_ENST00000411766.2_In_Frame_Del_p.MY176del	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	217	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TGCTTCGCATGTATGATGACAGA	0.374													12	101	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88512275	88512275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:88512275delT	ENST00000552810.1	-	17	2039	c.1696delA	c.(1696-1698)gafs	p.R566fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.R568fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	566					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTGCACTTCTTTTTCCTCTT	0.299													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294													2	4	---	---	---	---					
ZFY	7544	broad.mit.edu	37	Y	2844776	2844778	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chrY:2844776_2844778delGCA	ENST00000155093.3	+	6	1315_1317	c.994_996delGCA	c.(994-996)del	p.A337del	ZFY_ENST00000431102.1_In_Frame_Del_p.A146del|ZFY_ENST00000449237.1_Intron|ZFY_ENST00000383052.1_In_Frame_Del_p.A337del|ZFY-AS1_ENST00000417305.1_RNA	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TGCTGCTGTTGCAGCAGCAGCAG	0.399													2	4	---	---	---	---					
