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
SNRNP35	11066	broad.mit.edu	37	12	123950629	123950629	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:123950629G>A	ENST00000526639.2	+	2	1121	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	SNRNP35_ENST00000350887.5_Missense_Mutation_p.R181Q|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R186Q	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	181	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAGGGAAAACGGGAAAGGCGG	0.527000													6	56					0	0	0.029380	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974902	32974902	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:32974902C>A	ENST00000229829.5	-	4	779	c.704G>T	c.(703-705)gGc>gTc	p.G235V	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	235					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGACGGTGCCCACGAGGAA	0.627000													4	77					0.00909568	0.00992256	0.009096	1	0
PPEF1	5475	broad.mit.edu	37	X	18748426	18748426	+	Splice_Site	SNP	G	G	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:18748426G>T	ENST00000361511.4	+	5	668	c.174_splice	c.e5+1	p.Q58_splice	PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Splice_Site_p.Q58_splice|PPEF1_ENST00000543630.1_Splice_Site_p.Q58_splice|PPEF1_ENST00000359763.6_Splice_Site_p.Q58_splice	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	58					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCAAATGCAGGTCTGTTTTG	0.423000													73	110					9.42754e-34	1.13131e-33	0.139131	1	0
NEMF	9147	broad.mit.edu	37	14	50318332	50318332	+	Silent	SNP	T	T	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:50318332T>C	ENST00000298310.5	-	3	629	c.180A>G	c.(178-180)acA>acG	p.T60T	NEMF_ENST00000546046.1_Silent_p.T60T|NEMF_ENST00000545773.1_Silent_p.T60T|NEMF_ENST00000556672.1_Silent_p.T60T			O60524	NEMF_HUMAN	nuclear export mediator factor	60						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAATTCTGTTGTATGAATTC	0.358000													3	47					0	0	0.009096	0	0
FLNC	2318	broad.mit.edu	37	7	128478773	128478773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:128478773G>A	ENST00000325888.8	+	8	1588	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	FLNC_ENST00000346177.6_Missense_Mutation_p.A443T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	443					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATACAGACCTGCCATGGAGGG	0.632000													38	90					0	0	0.074837	0	0
MYOM1	8736	broad.mit.edu	37	18	3102502	3102502	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr18:3102502G>A	ENST00000400569.3	-	23	3878	c.3545C>T	c.(3544-3546)cCa>cTa	p.P1182L	MYOM1_ENST00000356443.4_Missense_Mutation_p.P1182L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1086L			P52179	MYOM1_HUMAN	myomesin 1	1182	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCAATCGTGGAGAGTCCTC	0.433000													25	110					0	0	0.116897	0	0
OR5B3	441608	broad.mit.edu	37	11	58170795	58170795	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:58170795G>A	ENST00000309403.2	-	1	87	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	30			P -> L (in dbSNP:rs17152661).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGATGAAGGGGAACGTTATA	0.398000													5	126					0	0	0.029380	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19770630	19770630	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr21:19770630C>T	ENST00000284885.3	-	2	195	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	54	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTTCATGACTCTGTCCAAGTG	0.343000													4	67					0	0	0.009096	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402453	47402453	+	Missense_Mutation	SNP	C	C	A	rs144085677	byFrequency	TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr1:47402453C>A	ENST00000310638.4	-	4	424	c.393G>T	c.(391-393)ttG>ttT	p.L131F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L131F|CYP4A11_ENST00000457840.2_Missense_Mutation_p.L27F|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.L131F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	131	Poly-Leu.				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L131F(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCAACAGGAGCAAGCCGTACC	0.532000													4	20					2.80697e-09	3.15785e-09	0.080935	1	0
MTHFD1	4522	broad.mit.edu	37	14	64908830	64908830	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:64908830C>T	ENST00000555709.1	+	20	2330	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S704F|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S704F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	648	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCAATTCCTCCATCATTGCA	0.498000													4	46					0	0	0.014758	0	0
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCATAGGGACCTATGGCCAAA	0.413000													49	74					8.00217e-19	9.29284e-19	0.139131	1	0
PZP	5858	broad.mit.edu	37	12	9352975	9352975	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:9352975A>C	ENST00000261336.2	-	7	768	c.740T>G	c.(739-741)aTa>aGa	p.I247R	PZP_ENST00000381997.2_Missense_Mutation_p.I116R	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGACTGTTATGTTCACTTT	0.313000													7	16					0	0	0.029380	0	0
ASUN	55726	broad.mit.edu	37	12	27089676	27089676	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:27089676C>T	ENST00000261191.7	-	2	597	c.61G>A	c.(61-63)Gca>Aca	p.A21T	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	21					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CAAGATTCTGCCATATAAGGG	0.383000													3	63					0	0	0.115264	0	0
WDPCP	51057	broad.mit.edu	37	2	63631601	63631601	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:63631601C>T	ENST00000409120.1	-	4	3991	c.441G>A	c.(439-441)aaG>aaA	p.K147K	WDPCP_ENST00000409199.1_Silent_p.K147K|WDPCP_ENST00000272321.7_Silent_p.K339K|WDPCP_ENST00000398544.3_Silent_p.K180K|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.K339K			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	339					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGCTGATGGCCTTTGACTTTA	0.433000													3	95					0	0	0.115264	0	0
YBX2	51087	broad.mit.edu	37	17	7193773	7193773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:7193773G>A	ENST00000007699.5	-	5	604	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	181					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647000													3	55					0	0	0.115264	0	0
GBF1	8729	broad.mit.edu	37	10	104119094	104119094	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:104119094G>A	ENST00000369983.3	+	11	1339	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	360					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTAGAGGAGTGCACGTCCCCT	0.552000													19	37					0	0	0.069288	0	0
STXBP4	252983	broad.mit.edu	37	17	53063607	53063607	+	Silent	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:53063607A>G	ENST00000376352.2	+	3	234	c.27A>G	c.(25-27)gtA>gtG	p.V9V	STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Silent_p.V9V|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Silent_p.V9V	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	9						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTACTGTAGTATCACCCAGTC	0.259000													24	35					0	0	0.116897	0	0
SIM1	6492	broad.mit.edu	37	6	100838751	100838751	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:100838751T>A	ENST00000369208.3	-	12	2569	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SIM1_ENST00000262901.4_Missense_Mutation_p.N596I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	596	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCAGCCCCATTAATGGAAGC	0.458000													26	32					0	0	0.083992	0	0
CCDC180	100499483	broad.mit.edu	37	9	100085164	100085164	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:100085164G>C	ENST00000375202.2	+	26	2693	c.1341G>C	c.(1339-1341)aaG>aaC	p.K447N	CCDC180_ENST00000529487.1_Missense_Mutation_p.K447N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.K546N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K444N|CCDC180_ENST00000357054.1_Missense_Mutation_p.K586N|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		TGTATGAGAAGACATGGCAGG	0.532000													12	18					0	0	0.132662	0	0
TRIM32	22954	broad.mit.edu	37	9	119460294	119460294	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:119460294C>T	ENST00000450136.1	+	2	434	c.273C>T	c.(271-273)ctC>ctT	p.L91L	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.L91L|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	91					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGCTGGGCTCAGCGAGGCTG	0.582000													31	38					0	0	0.059317	0	0
GLRA4	441509	broad.mit.edu	37	X	102977177	102977177	+	Silent	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:102977177A>G	ENST00000372617.4	-	6	1041	c.621T>C	c.(619-621)gaT>gaC	p.D207D		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	207						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGCAGGAGCATCTTCCAGCC	0.537000													9	208					0	0	0.058154	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	28					0	0	0.115264	0	0
VEGFA	7422	broad.mit.edu	37	6	43742103	43742103	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:43742103A>G	ENST00000372067.3	+	2	1126	c.632A>G	c.(631-633)gAa>gGa	p.E211G	VEGFA_ENST00000523873.1_Missense_Mutation_p.E31G|VEGFA_ENST00000457104.2_Missense_Mutation_p.E31G|VEGFA_ENST00000230480.6_Missense_Mutation_p.E3G|VEGFA_ENST00000372077.4_Missense_Mutation_p.E31G|VEGFA_ENST00000523125.1_Missense_Mutation_p.E31G|VEGFA_ENST00000372055.4_Missense_Mutation_p.E211G|VEGFA_ENST00000520948.1_Missense_Mutation_p.E31G|VEGFA_ENST00000425836.2_Missense_Mutation_p.E211G|VEGFA_ENST00000413642.3_Missense_Mutation_p.E211G|VEGFA_ENST00000518689.1_Missense_Mutation_p.E31G|VEGFA_ENST00000523950.1_Missense_Mutation_p.E31G|VEGFA_ENST00000324450.6_Missense_Mutation_p.E211G|VEGFA_ENST00000372064.4_Missense_Mutation_p.E211G|VEGFA_ENST00000518824.1_Missense_Mutation_p.E31G|VEGFA_ENST00000482630.2_Missense_Mutation_p.E211G|VEGFA_ENST00000417285.2_Missense_Mutation_p.E211G	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	31					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CCCATGGCAGAAGGAGGAGGG	0.617000											OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	36					0	0	0.021553	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	36					0	0	0.050027	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	33					0	0	0.009096	0	0
OPN4	94233	broad.mit.edu	37	10	88419674	88419674	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:88419674T>C	ENST00000372071.2	+	7	1083	c.856T>C	c.(856-858)Tgc>Cgc	p.C286R	OPN4_ENST00000241891.5_Missense_Mutation_p.C275R	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	275					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTTCGGGGCCTGCAAGGGCAA	0.637000													3	51					0	0	0.009096	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42115281	42115281	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr15:42115281C>T	ENST00000457542.2	+	28	3745	c.3459C>T	c.(3457-3459)agC>agT	p.S1153S	MAPKBP1_ENST00000260357.7_Silent_p.S992S|MAPKBP1_ENST00000221214.6_Silent_p.S1036S|MAPKBP1_ENST00000456763.2_Silent_p.S1159S|MAPKBP1_ENST00000514566.1_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1159										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAACCCCAGCCCCCAGCAGG	0.657000													22	28					0	0	0.055883	0	0
S1PR1	1901	broad.mit.edu	37	1	101705451	101705451	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr1:101705451C>T	ENST00000305352.6	+	2	1286	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	304					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGCTCAACTCCGGCACCAAC	0.567000													126	205					0	0	0.139131	0	0
LY75-CD302	0	broad.mit.edu	37	2	160637475	160637477	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:160637475_160637477delTTC	ENST00000504764.1	-	36	5161_5163	c.5134_5136delGAA	c.(5134-5136)del	p.E1712del	CD302_ENST00000259053.4_In_Frame_Del_p.E71del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1580					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.E71Q(1)									TAAAAGCATTTTCTTCTTCATTA	0.335													28	40	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													2	4	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045484	7045484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:7045484delC	ENST00000356654.4	+	5	1291	c.1054delC	c.(1054-1056)tgfs	p.L352fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.L352fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L352V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612													61	122	---	---	---	---					
