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
CPN2	1370	broad.mit.edu	37	3	194062520	194062520	+	Silent	SNP	G	G	C			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:194062520G>C	uc003fts.3	-	1	1002	c.912C>G	c.(910-912)gtC>gtG	p.V304V	CPN2_uc021xix.1_Silent_p.V304V	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	304					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCCCTCAGCGACAGTCTCCA	0.602000													18	72					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587695	247587695	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:247587695C>T	uc001icr.3	+	4	1088	c.950C>T	c.(949-951)cCg>cTg	p.P317L	NLRP3_uc001ics.3_Missense_Mutation_p.P317L|NLRP3_uc001icu.3_Missense_Mutation_p.P317L|NLRP3_uc001icw.3_Missense_Mutation_p.P317L|NLRP3_uc001icv.3_Missense_Mutation_p.P317L|NLRP3_uc010pyw.2_Missense_Mutation_p.P315L|NLRP3_uc001ict.1_Missense_Mutation_p.P315L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	317	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P317P(1)|p.G316V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACATAGGACCGCTCTGCACT	0.567000													39	110					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	rs144889690	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10348604C>T	uc002gmn.3	-	35	5356	c.5245G>A	c.(5245-5247)Gtc>Atc	p.V1749I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1749					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTCCTGGACGATGTCCTCC	0.468000													50	95					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127448571	127448571	+	Silent	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:127448571G>A	uc003kus.3	+	1	986	c.822G>A	c.(820-822)acG>acA	p.T274T	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.T274T	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	274					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGTCACGTATACTGCAG	0.368000													4	90					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293706	94293706	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr7:94293706C>T	uc003uno.3	+	1	1317	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PEG10_uc011kie.2_Missense_Mutation_p.R356C|PEG10_uc022ahn.1_Missense_Mutation_p.R280C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	280					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCCGCATGCGCCTGACGCA	0.602000													3	25					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422286	64422286	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:64422286A>G	uc003pep.1	+	14	4827	c.4802A>G	c.(4801-4803)cAa>cGa	p.Q1601R	PHF3_uc003pen.2_Missense_Mutation_p.Q1513R|PHF3_uc011dxs.1_Missense_Mutation_p.Q870R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGGAAGATCAAGAGAATAAT	0.333000													16	33					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77134067	77134067	+	Silent	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr18:77134067C>T	uc002lmx.3	+	27	3254	c.3240C>T	c.(3238-3240)taC>taT	p.Y1080Y	ATP9B_uc002lmw.1_Silent_p.Y1080Y|ATP9B_uc002lna.3_Silent_p.Y106Y|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1080					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TAGGCTGCTACGTGTCCTCAC	0.478000													17	47					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2641	2641	+	RNA	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chrGL000237.1:2641G>A	uc011mgu.1	-	0		c.46C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cctctaagccgggaacagagc	0.602000													3	22					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936739	21936739	+	RNA	SNP	G	G	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr15:21936739G>T	uc010tzj.1	-	0		c.4001C>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AGTGTCTCTGGATTCTGAAGT	0.418000													14	210					4.36969e-10	4.36969e-10	1	1	0
ABR	29	broad.mit.edu	37	17	1028592	1028592	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028592G>C	uc002fsd.3	-	1	282	c.172C>G	c.(172-174)Ccg>Gcg	p.P58A	ABR_uc002fse.3_Missense_Mutation_p.P12A|ABR_uc010cjq.1_Missense_Mutation_p.P70A	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	58					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGAGCTGCGGGGACATGGTG	0.672000													43	143					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436665	10436665	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10436665C>T	uc010coi.3	-	20	2506	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R793Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	793	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473000													19	59					0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49218563	49218563	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:49218563G>A	uc001jgd.3	-	7	1735	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TGGATCCAGCGTTCCTTCTCT	0.547000													3	26					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420035	19420035	+	RNA	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr13:19420035A>G	uc010tcj.1	-	0		c.26075T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAAATAGAAAATAACATTT	0.254000													5	22					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137629	140137629	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr9:140137629G>A	uc004cmh.1	+	3	1061	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB4B_uc004cmg.1_Missense_Mutation_p.R174H	NM_006088	NP_006079	P68371	TBB2C_HUMAN	Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.	320					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										TTCAGGGGCCGCATGTCCATG	0.542000													4	134					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10085520	10085520	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:10085520A>G	uc003buw.3	+	13	1184	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	FANCD2_uc003bux.1_Missense_Mutation_p.E369G|FANCD2_uc003buy.1_Missense_Mutation_p.E369G	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	369					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGGCAATTGAAAACACTGCC	0.388000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	17					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	1028598	1028598	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028598T>A	uc002fsd.3	-	1	276	c.166A>T	c.(166-168)Atg>Ttg	p.M56L	ABR_uc002fse.3_Missense_Mutation_p.M10L|ABR_uc010cjq.1_Missense_Mutation_p.M68L	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGGGGACATGGTGGGCGAC	0.672000													45	153					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420033	19420033	+	RNA	SNP	G	G	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr13:19420033G>A	uc010tcj.1	-	0		c.26077C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAAATAAATAGAAAATAACAT	0.249000													5	24					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35474051	35474051	+	Splice_Site	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:35474051C>T	uc003okv.4	-	9	840	c.828_splice	c.e9+1	p.A276_splice	TULP1_uc003okw.4_Splice_Site_p.A223_splice|TULP1_uc021yyx.1_Splice_Site_p.A276_splice|TULP1_uc021yyy.1_Splice_Site_p.A276_splice	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	276					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAACTCACCGCTTTCTGTG	0.687000													5	7					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721230	160721230	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:160721230C>T	uc003lys.1	-	10	1615	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	GABRB2_uc011deh.1_Missense_Mutation_p.R267H|GABRB2_uc003lyr.1_Missense_Mutation_p.R428H|GABRB2_uc003lyt.1_Missense_Mutation_p.R428H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	466					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCTCAGGCGACTTTTCTT	0.517000													22	77					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	70					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94554782	94554782	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:94554782A>G	uc001pfb.3	+	3	1378	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	AMOTL1_uc001pfc.3_Missense_Mutation_p.H353R	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	403						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGGCCACTGCACTCTGTCTCC	0.667000													10	28					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46510652	46510652	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chrX:46510652C>T	uc004dgu.1	-	9	1248	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	414					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGTAACACCTCAAAGAGCTGC	0.498000													19	22					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103827403	103827403	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:103827403G>T	uc001kuj.3	+	0	2280	c.2172G>T	c.(2170-2172)gaG>gaT	p.E724D		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	724						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATTCCCTGAGCCTGGAGCAG	0.617000									Hermansky-Pudlak syndrome				32	46					2.85442e-18	2.92953e-18	1	1	0
ABR	29	broad.mit.edu	37	17	1028596	1028596	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028596C>A	uc002fsd.3	-	1	278	c.168G>T	c.(166-168)atG>atT	p.M56I	ABR_uc002fse.3_Missense_Mutation_p.M10I|ABR_uc010cjq.1_Missense_Mutation_p.M68I	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCTGCGGGGACATGGTGGGCG	0.667000													46	148					1.86633e-21	1.96722e-21	1	1	0
NF1	4763	broad.mit.edu	37	17	29552216	29552216	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29552216T>A	uc002hgg.3	+	16	2332	c.1949T>A	c.(1948-1950)tTa>tAa	p.L650*	NF1_uc002hgh.3_Nonsense_Mutation_p.L650*|NF1_uc010csn.2_Nonsense_Mutation_p.L510*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	650					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGAAGAATTACTACGTACT	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			38	119					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724735	32724735	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr2:32724735A>T	uc010ezu.3	+	45	8724	c.8590A>T	c.(8590-8592)Aca>Tca	p.T2864S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2864					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAATCGGTTACATTTTTAGT	0.443000													9	183					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72748064	72748065	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:72748064_72748065delCA	uc001dfw.3	-	0	341_342	c.113_114delTG	c.(112-114)gtgfs	p.V38fs	NEGR1_uc010oqs.2_Frame_Shift_Del_p.V38fs	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	38	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGGGAAGTCCACACTCTGTCC	0.614													27	91	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:237024474delA	uc001hyi.4	+	19	2516	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_uc010pxw.2_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.2_Intron|MTR_uc010pxy.2_Frame_Shift_Del_p.Q552fs	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.N697T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													10	85	---	---	---	---					
GRIN1	2902	broad.mit.edu	37	9	140061869	140061869	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr9:140061869delG	uc004clk.3	+	19	3037	c.2707delG	c.(2707-2709)gggfs	p.G903fs	GRIN1_uc004cln.3_Intron|GRIN1_uc004clo.3_Intron|GRIN1_uc004clm.3_Intron|GRIN1_uc004cll.3_Frame_Shift_Del_p.G866fs	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	903					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATAGAGCACCGGGGGTGGACG	0.647													2	4	---	---	---	---					
TMEM133	83935	broad.mit.edu	37	11	100863216	100863216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:100863216delC	uc001pgf.3	+	0	406	c.177delC	c.(175-177)atcfs	p.I59fs		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	59						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CTTCCAAAATCAAGACACTTT	0.388													26	104	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr12:132281734_132281736delAGA	uc001uja.1	+	15	2686_2688	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	340	---	---	---	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	230	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29562657_29562660delTGTT	uc002hgg.3	+	27	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.L1246fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L1246fs|NF1_uc010csn.2_Frame_Shift_Del_p.L1106fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L279fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1246	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.F1247fs*16(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			62	192	---	---	---	---					
