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
SYNC	81493	broad.mit.edu	37	1	33149934	33149934	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:33149934A>G	ENST00000373484.3	-	3	1382	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A	SYNC_ENST00000409190.3_Missense_Mutation_p.V428A|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	428	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGAGTTGCACCCCATTTCT	0.433													6	81	---	---	---	---
TOR3A	64222	broad.mit.edu	37	1	179064325	179064325	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:179064325C>T	ENST00000367627.3	+	6	1918	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	389					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAGTCTATTTCCCAGAGGATT	0.493													8	131	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174820690	174820690	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:174820690C>A	ENST00000310015.6	-	4	1080	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	184	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCAATTTGAACCTGCTGACCA	0.413													29	159	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179403722	179403722	+	Silent	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:179403722C>T	ENST00000589042.1	-	353	99164	c.98940G>A	c.(98938-98940)ctG>ctA	p.L32980L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31339							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCTCACTCAGGCCAACAT	0.458													7	31	---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37591911	37591911	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:37591911G>C	ENST00000284437.6	+	3	412	c.234G>C	c.(232-234)tgG>tgC	p.W78C	C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	78										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCCCTGCTGGCCTCACCAAG	0.627													6	27	---	---	---	---
EMCN	51705	broad.mit.edu	37	4	101344519	101344519	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:101344519G>C	ENST00000296420.4	-	6	636	c.458C>G	c.(457-459)aCa>aGa	p.T153R	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.T140R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	153						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGAGGTTAATGTACCAGTTTT	0.398													5	41	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411435	126411435	+	Silent	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:126411435G>C	ENST00000394329.3	+	17	13471	c.13458G>C	c.(13456-13458)ggG>ggC	p.G4486G	FAT4_ENST00000335110.5_Silent_p.G2727G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4429G(1)|p.G4486G(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTGCGGGGCATGTCTGTG	0.622													7	43	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118169934	118169934	+	Silent	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr8:118169934C>T	ENST00000427715.2	+	7	710	c.276C>T	c.(274-276)atC>atT	p.I92I	SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I|SLC30A8_ENST00000519688.1_Silent_p.I92I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	141					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCTAGAGATCCTTGGTGCCC	0.527													13	103	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:55872975T>C	ENST00000313503.1	+	1	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGATTGGCTTTATAGACTC	0.443										HNSCC(53;0.14)			14	97	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380683	56380683	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:56380683G>A	ENST00000526538.1	-	1	295	c.296C>T	c.(295-297)aCa>aTa	p.T99I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443													4	42	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307699	113307699	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr12:113307699C>A	ENST00000389385.4	+	10	1148	c.651C>A	c.(649-651)ggC>ggA	p.G217G	RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	217	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTTTCCAGGCCCTGACCCAG	0.547													7	38	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20974749	20974749	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:20974749G>A	ENST00000261383.3	-	53	10456	c.10457C>T	c.(10456-10458)cCa>cTa	p.P3486L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3486					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGGACCGCTGGCACCATTTT	0.532													3	31	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31393167	31393167	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:31393167C>A	ENST00000268296.4	+	30	3552	c.3431C>A	c.(3430-3432)gCa>gAa	p.A1144E	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1144					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATGGAGGAGGCAAATGGACAA	0.527													4	56	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059816	9059816	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:9059816T>C	ENST00000397910.4	-	3	27833	c.27630A>G	c.(27628-27630)atA>atG	p.I9210M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9212	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TGATGGCCAGTATTTCAGCTG	0.488													3	42	---	---	---	---
SWSAP1	126074	broad.mit.edu	37	19	11486247	11486247	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:11486247C>A	ENST00000312423.2	+	2	304	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	82																	CTGTGCTCTGCCCATGAGGCC	0.612													4	108	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54314477	54314477	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:54314477G>A	ENST00000324134.6	-	3	604	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGCGCGCATTGCGG	0.572													13	77	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18020457	18020457	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr22:18020457A>G	ENST00000400573.5	+	14	1793	c.1786A>G	c.(1786-1788)Aca>Gca	p.T596A	CECR2_ENST00000262608.8_Missense_Mutation_p.T597A|CECR2_ENST00000400585.2_Missense_Mutation_p.T455A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTGTGGTGGGACACCCAGCCA	0.537													4	36	---	---	---	---
