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
RPAP3	79657	broad.mit.edu	37	12	48063934	48063934	+	Silent	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:48063934T>C	ENST00000005386.3	-	13	1597	c.1482A>G	c.(1480-1482)gcA>gcG	p.A494A	RPAP3_ENST00000380650.4_Silent_p.A460A|RPAP3_ENST00000432584.3_Silent_p.A335A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	494							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCAATACTTTTGCTCTTGGAG	0.383000													35	77					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923110	34923110	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr21:34923110C>T	ENST00000356577.4	+	3	2048	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S|SON_ENST00000381679.4_Missense_Mutation_p.P525S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	525					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTGGAACATCCTGGGCATCC	0.597000													49	98					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825473	21825473	+	RNA	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:21825473C>A	ENST00000426869.3	+	0	177					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cgtctccggacgccaggacct	0.652000													20	26					2.4624e-09	2.70263e-09	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													5	119					0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31556919	31556919	+	Silent	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:31556919C>T	ENST00000340027.5	-	4	794	c.531G>A	c.(529-531)ccG>ccA	p.P177P	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	177					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGACCACAGCCGGCAGCTGCC	0.582000													4	8					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870232	47870232	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:47870232G>A	ENST00000396105.1	-	11	3322	c.3076C>T	c.(3076-3078)Cac>Tac	p.H1026Y	ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1026							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAATGAGGTGCTGGCAAGCT	0.542000													44	94					0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38006211	38006211	+	Silent	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:38006211G>A	ENST00000276449.4	-	2	572	c.126C>T	c.(124-126)ggC>ggT	p.G42G		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	42					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	p.T44fs*3(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TAGGGGTGGGGCCCCCCAGGG	0.627000													18	44					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8394606	8394606	+	Silent	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr18:8394606C>G	ENST00000332175.8	+	30	5339	c.4302C>G	c.(4300-4302)ctC>ctG	p.L1434L	PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400060.4_Silent_p.L1448L|PTPRM_ENST00000580170.1_Silent_p.L1447L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1434	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGTCGACCTCCTGGTAGGAC	0.527000													8	22					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													6	38					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121154999	121154999	+	Silent	SNP	G	G	T	rs147692745	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:121154999G>T	ENST00000264233.5	-	28	7641	c.7513C>A	c.(7513-7515)Cga>Aga	p.R2505R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2505					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCCTCTCGATGACCATGG	0.403000								DNA polymerases (catalytic subunits)					19	59					1.01871e-10	1.17544e-10	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66455772	66455772	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:66455772C>T	ENST00000533211.1	-	32	6573	c.6242G>A	c.(6241-6243)cGg>cAg	p.R2081Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2081					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctccttctcccgctccTCTAG	0.567000													5	8					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486078	94486078	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:94486078C>T	ENST00000375708.3	-	9	2896	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCTGGGGCGTTCTGTGTG	0.632000													40	82					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	42					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													7	118					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243682	34243682	+	Missense_Mutation	SNP	A	A	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:34243682A>C	ENST00000346562.2	+	7	970	c.896A>C	c.(895-897)cAt>cCt	p.H299P	NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000356141.4_Missense_Mutation_p.H331P|NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATTGACTGCCATATGTTCGTC	0.468000													37	63					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196654268	196654268	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:196654268G>A	ENST00000367429.4	+	7	1105	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000359637.2_Missense_Mutation_p.E225K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	289	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACTGGAGATGAAATCACGTA	0.388000													63	106					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G	rs148310097	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	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)					GCACACCTGTCACCACTTCTA	0.522000													7	576					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111637761	111637761	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:111637761C>T	ENST00000502935.1	-	13	1357	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R370H			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	370					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.R370H(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCTTACCTGCGAAACTCCTC	0.463000													4	66					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454246	48454246	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:48454246G>A	ENST00000358536.4	-	25	5028	c.4759C>T	c.(4759-4761)Cgg>Tgg	p.R1587W	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1587					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCAGGTCCCGGTGCAAGGGC	0.622000													17	29					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106320841	106320841	+	RNA	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:106320841C>A	ENST00000390559.2	-	0	968																											GCAGGGCCACCCCTGTGAACA	0.667000													5	7					0.0215528	0.0215528	1	1	0
LYRM5	144363	broad.mit.edu	37	12	25357118	25357118	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:25357118C>A	ENST00000557540.2	+	3	308	c.139C>A	c.(139-141)Cca>Aca	p.P47T	LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000381356.4_Missense_Mutation_p.P49T|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000553788.1_Intron			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	47										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			TGTGAAGAATCCAGAGAAGAT	0.363000													16	27					3.45872e-05	3.53732e-05	1	1	0
CUX1	1523	broad.mit.edu	37	7	101671400	101671400	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:101671400C>T	ENST00000360264.3	+	3	217	c.197C>T	c.(196-198)cCg>cTg	p.P66L	CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000292535.7_Missense_Mutation_p.P55L|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	55					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGTAGCGCCGCTGCTGAAG	0.463000													13	36					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274342	114274342	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr4:114274342C>T	ENST00000357077.4	+	38	4621	c.4568C>T	c.(4567-4569)aCa>aTa	p.T1523I	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1490					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTGACCACAGATGTGTCT	0.443000													41	72					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48631681	48631681	+	Missense_Mutation	SNP	C	C	T	rs147500920		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:48631681C>T	ENST00000006658.6	+	15	2147	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	SPATA20_ENST00000356488.4_Missense_Mutation_p.T660M|SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	660					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CATGGCTTCACGGGCCACAAG	0.642000													3	40					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177017669	177017669	+	Nonstop_Mutation	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:177017669A>G	ENST00000306324.3	+	2	1179	c.767A>G	c.(766-768)tAg>tGg	p.*256W	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACGACCTTATAGAAGTGGGGA	0.632000													21	43					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419305	10419305	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:10419305C>T	ENST00000226207.5	-	5	537	c.443G>A	c.(442-444)cGc>cAc	p.R148H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	148	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R148H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTCCTGGCGCTTTTTGCC	0.502000													36	94					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50882296	50882296	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr19:50882296C>T	ENST00000253727.5	+	7	1020	c.785C>T	c.(784-786)gCc>gTc	p.A262V	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	262	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCCGAGATGCCCGCCAGCAA	0.632000													4	122					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373179	24373179	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:24373179G>A	ENST00000005284.3	+	4	2145	c.943G>A	c.(943-945)Gtc>Atc	p.V315I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V315I(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACCACGCCCGTCTGAACTGA	0.552000													13	32					0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85622055	85622055	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:85622055C>G	ENST00000263867.4	-	10	1257	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	CAPG_ENST00000409921.1_Missense_Mutation_p.E321D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	336					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGATGGGACTCTCATGGCCCT	0.597000													8	19					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94044279	94044279	+	Missense_Mutation	SNP	A	A	G	rs141609728	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr5:94044279A>G	ENST00000515393.1	-	22	2865	c.2866T>C	c.(2866-2868)Tat>Cat	p.Y956H	MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	956					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCAATTGCATATGGACTCCGA	0.323000													13	33					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	112					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561310	29561310	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:29561310G>C	ENST00000332303.4	-	1	723	c.600C>G	c.(598-600)gaC>gaG	p.D200E	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	200	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGCAGAAAGTCCCAGGCTT	0.517000													22	40					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566103	73566103	+	Silent	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:73566103C>T	ENST00000392550.3	+	15	1758	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	LLGL2_ENST00000577200.1_Silent_p.A547A|LLGL2_ENST00000167462.5_Silent_p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	547					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTGGAGGCCGACCTGCTGC	0.667000													9	31					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89790581	89790581	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:89790581C>G	ENST00000297205.2	+	3	747	c.547C>G	c.(547-549)Cca>Gca	p.P183A	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	183	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGTCTTACCCAATGAGGCG	0.388000													5	78					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55232997	55232997	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55232997G>T	ENST00000275493.2	+	15	1924	c.1747G>T	c.(1747-1749)Gcc>Tcc	p.A583S	EGFR_ENST00000455089.1_Missense_Mutation_p.A538S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000344576.2_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000454757.2_Missense_Mutation_p.A530S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	583					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TATCCAGTGTGCCCACTACAT	0.498000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	61					1.05317e-09	1.18482e-09	1	1	0
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			15	52					3.27435e-08	3.50823e-08	1	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|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													3	43					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268060	65268060	+	RNA	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:65268060A>G	ENST00000534336.1	+	0	2828					NR_002819.2																						AGCGCTAACGATTTGGTGGTG	0.532000													56	49					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	57					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618738	618738	+	Silent	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:618738T>C	ENST00000358353.3	-	14	2143	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	CDHR5_ENST00000397542.2_Silent_p.A607A|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	607	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GAGAGGTTCCTGCCTCTGGGG	0.662000													57	109					0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43919413	43919413	+	Frame_Shift_Del	DEL	A	A	-	rs6692611	by1000genomes	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:43919413delA	ENST00000372425.4	-	1	247	c.52delT	c.(52-54)tccfs	p.S18fs	HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	18				S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).			hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGGCCGGAGAGCTCGGGG	0.771													2	4	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276044	186276046	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:186276044_186276046delCCA	ENST00000445192.2	+	7	1238_1240	c.1193_1195delCCA	c.(1192-1197)cccacc>ccc	p.T401del	PRG4_ENST00000367485.4_In_Frame_Del_p.T308del|PRG4_ENST00000367483.4_In_Frame_Del_p.T360del|PRG4_ENST00000367484.3_In_Frame_Del_p.T360del|PRG4_ENST00000367486.3_In_Frame_Del_p.T358del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.650													7	121	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													3	4	---	---	---	---					
LINC01158	100506421	broad.mit.edu	37	2	105440929	105440930	+	RNA	INS	-	-	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:105440929_105440930insT	ENST00000458253.1	-	0	147				AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA																							ggtggtgatggtggtggtggtg	0.589													2	4	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:157100396_157100397insCGC	ENST00000346085.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcg>gCGCcg	p.450_451insP	ARID1B_ENST00000350026.5_In_Frame_Ins_p.450_451insP|ARID1B_ENST00000275248.4_In_Frame_Ins_p.392_393insP|ARID1B_ENST00000367148.1_In_Frame_Ins_p.450_451insP	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	450	Ala-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787													3	3	---	---	---	---					
LINCR-0001	101929191	broad.mit.edu	37	8	10335889	10335903	+	RNA	DEL	GGCTGCAGTGGTTGT	GGCTGCAGTGGTTGT	-	rs55641852		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:10335889_10335903delGGCTGCAGTGGTTGT	ENST00000517732.1	+	0	223				RP11-981G7.3_ENST00000520494.1_lincRNA																							GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG	0.586													5	5	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118307414	118307416	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:118307414_118307416delGCG	ENST00000534358.1	+	1	210_212	c.187_189delGCG	c.(187-189)gcgdel	p.A67del	KMT2A_ENST00000389506.5_In_Frame_Del_p.A67del|KMT2A_ENST00000354520.4_In_Frame_Del_p.A67del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		tgtggcggccgcggcggcggcgg	0.813													2	4	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													7	55	---	---	---	---					
CHORDC2P	317775	broad.mit.edu	37	14	90203658	90203660	+	RNA	DEL	CTC	CTC	-	rs10140344		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:90203658_90203660delCTC	ENST00000555070.1	-	0	170																											TATTTCTTTTCTCTTTCTTTCtt	0.355													6	3	---	---	---	---					
AKAP13	11214	broad.mit.edu	37	15	86287023	86287025	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:86287023_86287025delAAG	ENST00000394518.2	+	36	8454_8456	c.8359_8361delAAG	c.(8359-8361)aagdel	p.K2788del	AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2788	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGAAAAAAAAGAAGAACAAAA	0.527													8	48	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													2	4	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29486037	29486037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:29486037delG	ENST00000358273.4	+	3	597	c.214delG	c.(214-216)ggafs	p.G72fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	72					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.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAGAATATTTGGAGAAGCTGC	0.318			"""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)			18	16	---	---	---	---					
