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
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													3	32					0	0	1	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													6	73					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	47					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915922	127915922	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr9:127915922G>A	ENST00000451402.1	-	7	890	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000373547.4_Missense_Mutation_p.H187Y	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	187					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCTCCTTTATGAGGAATTTCC	0.438000													4	48					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40990708	40990708	+	Splice_Site	SNP	A	A	G			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:40990708A>G	ENST00000324545.7	+	4	875		c.e4-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAACTTTTAGGCCTCGATG	0.323000													3	45					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596776	228596776	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr1:228596776G>C	ENST00000456946.2	-	6	1355	c.980C>G	c.(979-981)tCt>tGt	p.S327C	TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGCACTTGTAGAACCCCCCCC	0.572000													9	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455982	179455982	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr2:179455982G>T	ENST00000589042.1	-	304	60694	c.60470C>A	c.(60469-60471)gCc>gAc	p.A20157D	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18516D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18516	Fibronectin type-III 46.						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)			TTTGCTACCGGCTGCATTGGA	0.423000													4	163					1	1	1	1	0
DMKN	93099	broad.mit.edu	37	19	36004008	36004008	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr19:36004008C>T	ENST00000339686.3	-	1	546	c.370G>A	c.(370-372)Gga>Aga	p.G124R	DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R|DMKN_ENST00000418261.1_Missense_Mutation_p.G124R	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	124	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATCTGCTCCGTGTCGAATG	0.617000													8	9					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97131803	97131803	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr10:97131803G>A	ENST00000371247.2	-	20	1930	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000361941.3_Missense_Mutation_p.P581S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	581					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTTTTTGGGAGGCTGACGG	0.478000													8	13					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10305000	10305000	+	Missense_Mutation	SNP	C	C	T	rs142137577		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:10305000C>T	ENST00000403437.2	-	23	2885	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	931					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTCCTCCTCCTCAGCTCTT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	90					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr14:64685207C>T	ENST00000357395.3	+	109	19864	c.8720C>T	c.(8719-8721)gCc>gTc	p.A2907V	SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527000													3	11					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306389	3306389	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr16:3306389C>T	ENST00000219596.1	-	1	238	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	67	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GTGAGCTGCACGGCGTACTCT	0.657000													15	39					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	29					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36583501	36583503	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr2:36583501_36583503delGCT	ENST00000280527.2	+	1	433_435	c.66_68delGCT	c.(64-69)ggg>gg	p.GL22del		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	22					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCTGCTGGGGCTGCTGCTGCTG	0.734													2	4	---	---	---	---					
LINC00971	0	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													5	1	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	RNA	DEL	A	A	-	rs60396213		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692													2	4	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													3	3	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29667527	29667528	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:29667527_29667528delCG	ENST00000358273.4	+	47	7309_7310	c.6926_6927delCG	c.(6925-6927)tfs	p.S2309fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2309					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	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)		TGCCAGGACTCGCCTCTGCACA	0.441			"""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)			13	16	---	---	---	---					
DCAF8L2	347442	broad.mit.edu	37	X	27765849	27765849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:27765849delC	ENST00000451261.2	+	5	1236	c.837delC	c.(835-837)ttfs	p.F279fs		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGGCCAAGTTCCTTCCTAACT	0.478													2	4	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	3	---	---	---	---					
