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
GLI2	2736	broad.mit.edu	37	2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:121748118G>A	ENST00000452319.1	+	14	4688	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1543					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACTCCTCCCGCCTCACCACC	0.612000													15	112					0	0	0.146539	0	0
AIM1	202	broad.mit.edu	37	6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:106992724G>T	ENST00000369066.3	+	11	4491	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.S154I	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1335	Beta/gamma crystallin 'Greek key' 7.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAGGTTCCAGTATTGATGTA	0.333000													23	97					2.21704e-12	2.8039e-12	0.076483	1	0
MT-CO1	4512	broad.mit.edu	37	MT	6978	6978	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrM:6978G>A	ENST00000361624.2	+	1	1075	c.1075G>A	c.(1075-1077)Gca>Aca	p.359_359insT						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCATTGTATTAGCAAACTCAT	0.458000													20	25					0	0	0.099896	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	5					0	0	0.115264	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	50					0	0	0.009096	0	0
OAS3	4940	broad.mit.edu	37	12	113388602	113388602	+	Silent	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:113388602C>T	ENST00000228928.7	+	7	1658	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	493	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582000													23	95					0	0	0.083992	0	0
MT-TL1	0	broad.mit.edu	37	MT	3248	3248	+	RNA	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrM:3248G>A	ENST00000386347.1	+	0	19																											tggcagagcccggtaatcgca	0.438000													5	57					0	0	0.014758	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:54936440G>A	ENST00000293373.6	+	31	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1119					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542000													7	113					0	0	0.029380	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14285	14285	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrM:14285T>C	ENST00000361681.2	-	1	388	c.389A>G	c.(388-390)gAg>gGg	p.E130G						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACCCTGACCCCTCTCCTTCAT	0.458000													5	53					0	0	0.014758	0	0
TSPAN14	81619	broad.mit.edu	37	10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr10:82267030A>G	ENST00000429989.2	+	4	402	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	60						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592000													3	40					0	0	0.014758	0	0
BSN	8927	broad.mit.edu	37	3	49691153	49691153	+	Silent	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49691153T>C	ENST00000296452.4	+	5	4278	c.4164T>C	c.(4162-4164)ccT>ccC	p.P1388P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1388					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGTGGCTCCTTGTCCAGCTG	0.622000													8	51					0	0	0.105934	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:26027331C>G	ENST00000377364.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562000													25	46					0	0	0.116897	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	76					0	0	0.021553	0	0
MAGED1	9500	broad.mit.edu	37	X	51644751	51644751	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrX:51644751G>A	ENST00000375695.2	+	13	2383	c.2230G>A	c.(2230-2232)Gct>Act	p.A744T	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	688					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CGAAGCCCGGGCTGAAGCAAG	0.577000										Multiple Myeloma(10;0.10)			17	5					0	0	0.033300	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	50					0	0	0.115264	0	0
MUC17	140453	broad.mit.edu	37	7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478000													6	382					0	0	0.021553	0	0
DNM1P47	0	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													4	17					0	0	0.014758	0	0
CAMKV	79012	broad.mit.edu	37	3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49898222C>A	ENST00000477224.1	-	8	1180	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	234	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502000													21	142					1.96292e-10	2.41159e-10	0.055883	1	0
MAML1	9794	broad.mit.edu	37	5	179200917	179200917	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr5:179200917G>A	ENST00000292599.3	+	5	2353	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	697					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTGCCCGGCATGAACACC	0.587000													4	132					0	0	0.014758	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	36					0.004672	0.00542962	0.115264	1	0
BBX	56987	broad.mit.edu	37	3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:107429455G>A	ENST00000415149.2	+	4	475	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	50	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agacgaagaggaggaTATTGA	0.348000													6	33					0	0	0.021553	0	0
DNM1P46	0	broad.mit.edu	37	15	100340293	100340293	+	RNA	SNP	C	C	G	rs142617387	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr15:100340293C>G	ENST00000341853.1	-	0	633					NR_003260.1																						GCCGACTCCTCCACGAGTGTC	0.632000													4	12					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:9082462G>A	ENST00000397910.4	-	1	9556	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCTCAGATGGTGTGAA	0.483000													5	258					0	0	0.014758	0	0
FAM179A	165186	broad.mit.edu	37	2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:29226385T>A	ENST00000379558.4	+	6	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	223							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622000													4	4					0	0	0.009096	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999747	45999747	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:45999747T>C	ENST00000400372.1	-	1	734	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	237	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGAGGAGATGGGCACGCAG	0.716000													4	41					0	0	0.029380	0	0
HSPA8	3312	broad.mit.edu	37	11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:122931873C>T	ENST00000534624.1	-	2	436	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	54					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438000													9	64					0	0	0.047766	0	0
ABCC5	10057	broad.mit.edu	37	3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:183655701C>A	ENST00000334444.6	-	26	4082	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1281	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GACAGTGCCACTGAACAGCAC	0.552000													9	49					0.000274275	0.000327606	0.047766	1	0
IFT46	56912	broad.mit.edu	37	11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:118422948C>T	ENST00000264020.2	-	9	1116	c.739G>A	c.(739-741)Gcg>Acg	p.A247T	IFT46_ENST00000264021.3_Missense_Mutation_p.A196T|IFT46_ENST00000530872.1_Missense_Mutation_p.A247T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	196					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443000													5	154					0	0	0.014758	0	0
SIK1	150094	broad.mit.edu	37	21	44836663	44836663	+	Silent	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:44836663G>A	ENST00000270162.6	-	14	2443	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	771					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CAGGGCATCAGGTCCTCCATC	0.657000													9	26					0	0	0.058154	0	0
UGT1A1	0	broad.mit.edu	37	2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:234669699T>C	ENST00000360418.3	+	1	766	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN		256					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTCTGGCTGTTTAGAAGTGA	0.483000													5	184					0	0	0.014758	0	0
DST	667	broad.mit.edu	37	6	56707935	56707935	+	Silent	SNP	A	A	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:56707935A>C	ENST00000370769.4	-	1	8	c.9T>G	c.(7-9)ggT>ggG	p.G3G	DST_ENST00000361203.3_Silent_p.G3G|DST_ENST00000421834.2_Silent_p.G3G|DST_ENST00000312431.6_Silent_p.G3G|DST_ENST00000370788.2_Silent_p.G3G|DST_ENST00000370754.5_Intron			Q03001	DYST_HUMAN	dystonin	3					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGAGAGGTAACCCGCCATGC	0.562000													5	10					0	0	0.033300	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	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				34	55					0	0	0.069456	0	0
PCLO	27445	broad.mit.edu	37	7	82545550	82545550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:82545550G>A	ENST00000423517.2	-	7	12089	c.11752C>T	c.(11752-11754)Caa>Taa	p.Q3918*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3849					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAAACTTGCTGATGGTAC	0.458000													7	433					0	0	0.029380	0	0
AC006293.3	0	broad.mit.edu	37	19	55221935	55221935	+	RNA	SNP	G	G	A	rs45588833	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr19:55221935G>A	ENST00000413439.1	+	0	1462																											CGGGCCCCACGGTGGCCTCAG	0.637000													4	41					0	0	0.021553	0	0
GLI2	2736	broad.mit.edu	37	2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:121748118G>A	ENST00000452319.1	+	14	4688	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H			P10070	GLI2_HUMAN	GLI family zinc finger 2	1543					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACTCCTCCCGCCTCACCACC	0.612000													15	112					0	0	0.146539	0	0
AIM1	202	broad.mit.edu	37	6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr6:106992724G>T	ENST00000369066.3	+	11	4491	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1335	Beta/gamma crystallin 'Greek key' 7.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAGGTTCCAGTATTGATGTA	0.333000													23	97					2.21704e-12	2.85047e-12	0.076483	1	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	50					0	0	0.009096	0	0
OAS3	4940	broad.mit.edu	37	12	113388602	113388602	+	Silent	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr12:113388602C>T	ENST00000228928.7	+	7	1658	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	493	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582000													23	95					0	0	0.083992	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr12:54936440G>A	ENST00000293373.6	+	31	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1119					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542000													7	113					0	0	0.029380	0	0
SIK1	150094	broad.mit.edu	37	21	44836663	44836663	+	Silent	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr21:44836663G>A	ENST00000270162.6	-	14	2443	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	771					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CAGGGCATCAGGTCCTCCATC	0.657000													9	26					0	0	0.058154	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14285	14285	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chrM:14285T>C	ENST00000361681.2	-	1	388	c.389A>G	c.(388-390)gAg>gGg	p.E130G						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACCCTGACCCCTCTCCTTCAT	0.458000													5	53					0	0	0.014758	0	0
TSPAN14	81619	broad.mit.edu	37	10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr10:82267030A>G	ENST00000429989.2	+	4	402	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	60						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592000													3	40					0	0	0.014758	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr6:26027331C>G	ENST00000377364.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562000													25	46					0	0	0.116897	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	51					0	0	0.029380	0	0
MAGED1	9500	broad.mit.edu	37	X	51644751	51644751	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chrX:51644751G>A	ENST00000375695.2	+	13	2383	c.2230G>A	c.(2230-2232)Gct>Act	p.A744T	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	688					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CGAAGCCCGGGCTGAAGCAAG	0.577000										Multiple Myeloma(10;0.10)			17	5					0	0	0.033300	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	97					0	0	0.038147	0	0
CAMKV	79012	broad.mit.edu	37	3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:49898222C>A	ENST00000477224.1	-	8	1180	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	234	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502000													21	142					1.96292e-10	2.45365e-10	0.055883	1	0
MAML1	9794	broad.mit.edu	37	5	179200917	179200917	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr5:179200917G>A	ENST00000292599.3	+	5	2353	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	697					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTGCCCGGCATGAACACC	0.587000													4	132					0	0	0.014758	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	36					0.004672	0.005256	0.115264	1	0
BBX	56987	broad.mit.edu	37	3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:107429455G>A	ENST00000415149.2	+	4	475	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	50	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agacgaagaggaggaTATTGA	0.348000													6	33					0	0	0.021553	0	0
MUC16	94025	broad.mit.edu	37	19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr19:9082462G>A	ENST00000397910.4	-	1	9556	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCTCAGATGGTGTGAA	0.483000													5	258					0	0	0.014758	0	0
FAM179A	165186	broad.mit.edu	37	2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:29226385T>A	ENST00000379558.4	+	6	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	223							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622000													4	4					0	0	0.009096	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	50					0	0	0.115264	0	0
HSPA8	3312	broad.mit.edu	37	11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr11:122931873C>T	ENST00000534624.1	-	2	436	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	54					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438000													9	64					0	0	0.047766	0	0
ABCC5	10057	broad.mit.edu	37	3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:183655701C>A	ENST00000334444.6	-	26	4082	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1281	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GACAGTGCCACTGAACAGCAC	0.552000													9	49					0.000274275	0.000324799	0.047766	1	0
IFT46	56912	broad.mit.edu	37	11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr11:118422948C>T	ENST00000264020.2	-	9	1116	c.739G>A	c.(739-741)Gcg>Acg	p.A247T	IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264021.3_Missense_Mutation_p.A196T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	196					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443000													5	154					0	0	0.014758	0	0
UGT1A1	0	broad.mit.edu	37	2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:234669699T>C	ENST00000360418.3	+	1	766	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L			P22309	UD11_HUMAN		256					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTCTGGCTGTTTAGAAGTGA	0.483000													5	184					0	0	0.014758	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	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				34	55					0	0	0.069456	0	0
PCLO	27445	broad.mit.edu	37	7	82545550	82545550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr7:82545550G>A	ENST00000423517.2	-	7	12089	c.11752C>T	c.(11752-11754)Caa>Taa	p.Q3918*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3849					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAAACTTGCTGATGGTAC	0.458000													7	433					0	0	0.029380	0	0
RPL32P3	0	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													6	161					0	0	0.021553	0	0
AC006293.3	0	broad.mit.edu	37	19	55221926	55221926	+	RNA	SNP	G	G	A	rs146908906	by1000genomes	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr19:55221926G>A	ENST00000413439.1	+	0	1453																											CGGTGCAGCCGGGCCCCACGG	0.642000													5	42					0	0	0.029380	0	0
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6	---	---	---	---					
VAV2	7410	broad.mit.edu	37	9	136635556	136635556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr9:136635556delT	ENST00000371851.1	-	25	2586	c.2261delA	c.(2260-2262)agfs	p.K754fs	VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	764	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTAGGGGTACTTGAGTGTGGT	0.637													14	85	---	---	---	---					
RP11-1166P10.8	0	broad.mit.edu	37	16	32126700	32126726	+	RNA	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG	ENST00000564145.1	-	0	456																											ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352													5	6	---	---	---	---					
DYNC1LI2	1783	broad.mit.edu	37	16	66757703	66757703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr16:66757703delA	ENST00000258198.2	-	13	1607	c.1401delT	c.(1399-1401)aafs	p.N467fs	DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	467					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTTCCTGAACATTTGACAACA	0.333													10	75	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49982166	49982166	+	Splice_Site	DEL	C	C	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:49982166delC	ENST00000595510.1	+	5	398	c.96_splice	c.e5-1	p.P35_splice	FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000594009.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000204637.2_Splice_Site_p.P35_splice|FLT3LG_ENST00000600429.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000344019.3_Splice_Site_p.P117_splice|CTD-3148I10.9_ENST00000599536.1_Intron			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	117					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGCTCCCAGCCCCCCCCCAG	0.687													2	4	---	---	---	---					
SCARNA15	0	broad.mit.edu	37	20	41933319	41933319	+	RNA	DEL	A	A	-	rs79619980		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr20:41933319delA	ENST00000516384.1	+	0	125																											TATCaatagcaaaaaaaaaaa	0.318													3	6	---	---	---	---					
RP5-896L10.1	0	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs57656522		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													3	3	---	---	---	---					
VAV2	7410	broad.mit.edu	37	9	136635556	136635556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr9:136635556delT	ENST00000371851.1	-	25	2586	c.2261delA	c.(2260-2262)agfs	p.K754fs	VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	764	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTAGGGGTACTTGAGTGTGGT	0.637													14	85	---	---	---	---					
DYNC1LI2	1783	broad.mit.edu	37	16	66757703	66757703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr16:66757703delA	ENST00000258198.2	-	13	1607	c.1401delT	c.(1399-1401)aafs	p.N467fs	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	467					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTTCCTGAACATTTGACAACA	0.333													10	75	---	---	---	---					
SCARNA15	0	broad.mit.edu	37	20	41933319	41933319	+	RNA	DEL	A	A	-	rs79619980		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr20:41933319delA	ENST00000516384.1	+	0	125																											TATCaatagcaaaaaaaaaaa	0.318													3	6	---	---	---	---					
