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
ATM	472	broad.mit.edu	37	11	108124759	108124759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:108124759C>A	ENST00000278616.4	+	13	2502	c.2117C>A	c.(2116-2118)tCa>tAa	p.S706*	ATM_ENST00000452508.2_Nonsense_Mutation_p.S706*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	706			YSS -> FIP (in AT; might be associated with susceptibility to cancer).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATAATTACTCATCTGAGGTG	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			32	51					8.88839e-20	9.53876e-20	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43166847	43166847	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr21:43166847C>T	ENST00000352483.2	-	5	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RIPK4_ENST00000544709.1_Missense_Mutation_p.R190H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R253H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R190H			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	253						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGCAGGCGCGCGGCCGGGC	0.667000													36	54					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57998056	57998056	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr16:57998056C>T	ENST00000564448.1	-	4	328	c.268G>A	c.(268-270)Gct>Act	p.A90T	CNGB1_ENST00000251102.8_Missense_Mutation_p.A90T|CNGB1_ENST00000311183.4_Missense_Mutation_p.A90T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	90					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAAATCTCAGCGCCCTGGGCC	0.587000													10	10					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													3	25					0.00024832	0.00024832	1	1	0
MOG	4340	broad.mit.edu	37	6	29638125	29638125	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr6:29638125C>T	ENST00000376894.4	+	6	778	c.660C>T	c.(658-660)ccC>ccT	p.P220P	MOG_ENST00000376888.2_Silent_p.P104P|MOG_ENST00000376898.3_Silent_p.P220P|MOG_ENST00000376917.3_Silent_p.P220P|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000416766.2_Silent_p.P182P|MOG_ENST00000396701.2_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Intron|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Intron|MOG_ENST00000490427.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	220					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCTTGGACCCTTGGTTGCCT	0.512000													4	81					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151641080	151641080	+	Missense_Mutation	SNP	A	A	G	rs149636067		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:151641080A>G	ENST00000368843.3	+	7	1238	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000458013.2_Missense_Mutation_p.N373S	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	373					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.N373S(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTAAATGACAATGACCTTGCT	0.363000													32	51					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632000													55	114					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000													3	16					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503468	124503468	+	Missense_Mutation	SNP	T	T	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503468T>A	ENST00000357628.3	-	8	1080	c.482A>T	c.(481-483)tAt>tTt	p.Y161F	POT1_ENST00000393329.1_Missense_Mutation_p.Y30F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	161					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CAGGTCAAAATACTGCATTGG	0.403000													46	70					0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161143660	161143660	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:161143660C>T	ENST00000319769.5	-	5	891	c.669G>A	c.(667-669)aaG>aaA	p.K223K	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.K223K	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	223				K -> S (in Ref. 2; AAC39734).	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TGTATCCAAACTTGTTCATAG	0.537000													7	52					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286320	152286320	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:152286320G>A	ENST00000368799.1	-	3	1077	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCAGAGTGCCCATGACTG	0.557000									Ichthyosis				10	390					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080421	1080421	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:1080421C>T	ENST00000536472.1	+	13	1629	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron|HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590577.1_Intron			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTCCCTGCGACCCACCCT	0.677000													22	37					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190864382	190864382	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr4:190864382A>T	ENST00000226798.4	+	2	310	c.88A>T	c.(88-90)Aaa>Taa	p.K30*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	30	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		caaagataagaaaagaaaaag	0.303000													3	45					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480296	96480296	+	Splice_Site	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:96480296T>C	ENST00000285979.6	+	6	1160		c.e6+2		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGGTCACAGGTATGATGATAC	0.448000													35	43					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521493	39521493	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:39521493C>T	ENST00000251646.3	-	5	859	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	270	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CGATGATCTCCGCCTGGTAGG	0.587000													45	54					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCCCAGCAGGTTGATGATAT	0.542000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						41	51					9.39024e-22	1.05941e-21	1	1	0
SLC6A10P	0	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	34					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74332990	74332990	+	Missense_Mutation	SNP	C	C	T	rs140238648		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:74332990C>T	ENST00000377044.4	-	13	2812	c.2273G>A	c.(2272-2274)cGa>cAa	p.R758Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.R695Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGATGAGGTCGAAATCTAGG	0.338000													29	50					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906505	164906505	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr3:164906505C>T	ENST00000475390.1	-	2	2557	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.C705Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	705						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCCTGTGGCATTGCATTTG	0.592000										HNSCC(40;0.11)			33	31					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								25	57					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503470	124503470	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503470C>A	ENST00000357628.3	-	8	1078	c.480G>T	c.(478-480)caG>caT	p.Q160H	POT1_ENST00000393329.1_Missense_Mutation_p.Q29H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	160					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGTCAAAATACTGCATTGGCT	0.398000													45	69					1.00776e-21	1.10853e-21	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17085906	17085906	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:17085906C>T	ENST00000388925.4	-	13	1601	c.1429G>A	c.(1429-1431)Gta>Ata	p.V477I	CPAMD8_ENST00000443236.1_Splice_Site			Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	0						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCTCCTTACGGTGAAGGCA	0.547000													7	7					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507258	76507258	+	Missense_Mutation	SNP	C	C	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:76507258C>G	ENST00000527881.1	+	2	1624	c.598C>G	c.(598-600)Ccc>Gcc	p.P200A	TSKU_ENST00000333090.4_Missense_Mutation_p.P200A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	200						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CCATGCCGTGCCCAACCTCCG	0.667000													34	43					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967043	7967043	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:7967043G>A	ENST00000543909.1	-	16	2191	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTCCTGCCACGGGTCTCAGGG	0.498000													30	51					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669989	24669989	+	Silent	SNP	A	A	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:24669989A>G	ENST00000376454.3	+	3	576	c.546A>G	c.(544-546)agA>agG	p.R182R	KIAA1217_ENST00000376452.3_Silent_p.R182R|KIAA1217_ENST00000376462.1_Silent_p.R102R|KIAA1217_ENST00000430453.2_Silent_p.R103R|KIAA1217_ENST00000458595.1_Silent_p.R182R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	182					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAAAGAAAGATCTCTGGGTA	0.468000													17	33					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866968	103866968	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:103866968T>C	ENST00000302251.5	-	3	768	c.317A>G	c.(316-318)gAt>gGt	p.D106G	PDGFD_ENST00000393158.2_Missense_Mutation_p.D112G	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	112	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCCACAAAATCATACCTAGA	0.328000													11	46					0	0	1	0	0
RP11-152F13.10	0	broad.mit.edu	37	15	83218295	83218295	+	Missense_Mutation	SNP	A	A	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr15:83218295A>G	ENST00000562833.1	-	5	517	c.518T>C	c.(517-519)cTg>cCg	p.L173P	CPEB1_ENST00000568757.1_Silent_p.A363A|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Silent_p.A438A|CPEB1_ENST00000562019.1_Silent_p.A443A|CPEB1_ENST00000450751.2_Silent_p.A363A|CPEB1_ENST00000398591.2_Silent_p.A368A|CPEB1_ENST00000398592.2_Silent_p.A212A|CPEB1_ENST00000261723.6_Silent_p.A441A|CPEB1_ENST00000423133.2_Silent_p.A363A|CPEB1_ENST00000564522.1_Silent_p.A363A|CPEB1_ENST00000563800.1_Silent_p.A465A																							CCAGGGCCTCAGCATTTAGCA	0.527000													27	29					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11129635	11129635	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:11129635C>A	ENST00000358026.2	+	17	2725	c.2441C>A	c.(2440-2442)aCg>aAg	p.T814K	SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	814	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)|p.T814K(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCATCAGAACGCTGTCCAAC	0.547000			"""F, N, Mis"""		NSCLC								39	58					9.73076e-26	1.12672e-25	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	51					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533529	169533529	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:169533529G>A	ENST00000449804.2	+	1	613	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FOXI1_ENST00000306268.6_Missense_Mutation_p.D190N	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	190					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGACGAGGACGACCCGGGTAA	0.582000									Pendred syndrome				6	17					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074140	8074140	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:8074140G>A	ENST00000075120.7	-	10	1600	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	454					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GTCCTGCCACGGGTCTCAGGG	0.488000													14	125					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39394362	39394362	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:39394362T>C	ENST00000320816.6	-	2	528	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	DAB2_ENST00000509337.1_Missense_Mutation_p.K21E|DAB2_ENST00000339788.6_Missense_Mutation_p.K21E|DAB2_ENST00000545653.1_Missense_Mutation_p.K21E	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	21					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAGGGTGCTTTTGGTGCGGCC	0.488000													31	31					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	37					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	368051	368051	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:368051C>A	ENST00000432829.2	+	15	1825	c.1509C>A	c.(1507-1509)aaC>aaA	p.N503K	DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.N503K|DOCK8_ENST00000453981.1_Missense_Mutation_p.N571K|DOCK8_ENST00000382331.1_5'UTR	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	571	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGAGGCTGAACTTTGTAAACA	0.393000													6	69					1.06961e-07	1.12055e-07	1	1	0
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(640-645)gcggaafs	p.E215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													2	4	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37046252	37046258	+	Frame_Shift_Del	DEL	TACAAAA	TACAAAA	-	rs138404850		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:37046252_37046258delTACAAAA	ENST00000282516.8	+	38	7039_7045	c.6540_6546delTACAAAA	c.(6538-6546)ttfs	p.FTK2180fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.FTK2180fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATGTATTTTACAAAACACTCAGATG	0.290													19	40	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	RNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553													5	6	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													6	7	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	3	---	---	---	---					
AMZ2P1	0	broad.mit.edu	37	17	62969193	62969193	+	RNA	DEL	A	A	-			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:62969193delA	ENST00000430983.1	-	0	1290					NR_026903.1																						GATATGAATTAAAAAAAAATG	0.328													3	6	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38901984	38901984	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr22:38901984delC	ENST00000396821.3	-	1	358	c.259delG	c.(259-261)acfs	p.D87fs	DDX17_ENST00000381633.3_Frame_Shift_Del_p.D8fs|DDX17_ENST00000432525.1_Intron	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	8					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CGGTCCCGGTCCCCAAAGCCT	0.701													2	4	---	---	---	---					
FTX	0	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													3	5	---	---	---	---					
