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
PRMT5	10419	broad.mit.edu	37	14	23395463	23395463	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:23395463T>G	ENST00000324366.8	-	7	879	c.656A>C	c.(655-657)gAt>gCt	p.D219A	PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	219					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAGCCAGCGATCAATGACATG	0.478000													4	84					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12783983	12783983	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12783983C>T	ENST00000314124.7	-	5	681	c.325G>A	c.(325-327)Gtt>Att	p.V109I	TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I|TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCTTCAAAACGTCAGGCTCC	0.512000													5	107					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137721798	137721798	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:137721798G>T	ENST00000314358.5	+	7	1068	c.868G>T	c.(868-870)Gct>Tct	p.A290S		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	290					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGGAAAAGTGCTTCGGACTC	0.483000													4	76					0.150653	0.153443	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109695424	109695424	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:109695424C>A	ENST00000465301.2	+	3	1825	c.1579C>A	c.(1579-1581)Caa>Aaa	p.Q527K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	527										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCATGCCACAATTGACAGT	0.522000													5	229					8.12818e-05	8.59712e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62301031	62301031	+	Silent	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62301031A>G	ENST00000378024.4	-	5	1132	c.858T>C	c.(856-858)ggT>ggC	p.G286G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	286					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACTGCCCTACCCCCAAGAG	0.517000													32	60					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151845755	151845755	+	Silent	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:151845755T>C	ENST00000355193.2	-	53	13646	c.13428A>G	c.(13426-13428)ctA>ctG	p.L4476L	KMT2C_ENST00000262189.6_Silent_p.L4419L					lysine (K)-specific methyltransferase 2C																		CAAGGTTGAGTAGCCTTGCTG	0.493000													30	50					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129203477	129203477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:129203477G>A	ENST00000308167.5	-	8	1364	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	329					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCTGGTTCGCCGGGTGGTA	0.612000			T	ERG	AML								7	124					0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202124738	202124738	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:202124738C>T	ENST00000309017.3	-	5	1480		c.e5-1		PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCTGGGGATCTAGGAAATAA	0.527000													4	39					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035850	95035850	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:95035850G>A	ENST00000557004.1	+	5	1623	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	401					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CGATTCAACCGGCCCTTCCTT	0.587000													8	69					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75260418	75260418	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr10:75260418A>G	ENST00000339859.4	-	22	4590	c.4490T>C	c.(4489-4491)cTc>cCc	p.L1497P	RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1497					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTACCTGGGAGTCTATTGGG	0.522000													16	52					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10970009	10970009	+	Splice_Site	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:10970009C>G	ENST00000298232.7	-	6	486	c.119_splice	c.e6+1	p.S40_splice	TPTE_ENST00000361285.4_Splice_Site_p.S40_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S40_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	40					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATTGCTCACCTTTCTTTCGC	0.438000													15	92					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9607904	9607904	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:9607904C>T	ENST00000460593.1	+	16	2882	c.1745_splice	c.e16+1	p.Q582_splice	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Splice_Site_p.Q619_splice			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	619					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GATCATGCTCCAGTAAGTTTT	0.468000													5	56					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877971	27877971	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:27877971G>A	ENST00000374011.2	-	6	1624	c.656C>T	c.(655-657)aCg>aTg	p.T219M	AHDC1_ENST00000247087.5_Missense_Mutation_p.T219M|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	219	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCCGCAGCCGTGGCTCCGGG	0.652000													26	11					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	26					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport	cytoplasm|nucleus	binding	p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363000													3	78					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5250214	5250214	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5250214C>A	ENST00000262477.6	+	6	1002	c.778C>A	c.(778-780)Cat>Aat	p.H260N	RABEP1_ENST00000546142.2_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N|RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	260					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAAGAATTGCATGAAGGTAA	0.308000													3	47					0.00909568	0.00943891	1	1	0
LARP4	113251	broad.mit.edu	37	12	50860853	50860853	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr12:50860853G>A	ENST00000398473.2	+	13	1607	c.1495G>A	c.(1495-1497)Gtt>Att	p.V499I	LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	499							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGGTGAACTCGTTTTGGAGAA	0.393000													4	60					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma								15	19					0	0	1	0	0
AJ271736.10	0	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:155255062C>G	ENST00000285718.7	+	0	1367				WASH6P_ENST00000461007.1_RNA																							CACCTTCCCCCCCAGACCCAG	0.627000													3	30					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545908	94545908	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:94545908G>A	ENST00000330836.5	-	2	312	c.181C>T	c.(181-183)Cct>Tct	p.P61S	DDX24_ENST00000555054.1_Missense_Mutation_p.P18S|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	61					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTCTTGGCAGGGGAGACCAAC	0.468000													5	148					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135383017	135383017	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:135383017G>A	ENST00000442011.2	+	6	840	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	227	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAACCAACGGGGTGGTGCA	0.532000													4	152					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								26	70					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104638942	104638942	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:104638942G>A	ENST00000315264.7	+	6	1318	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	KIF26A_ENST00000423312.2_Missense_Mutation_p.V453M			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	453					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTGGCCGACGTGCTCCAGTC	0.642000													4	63					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15561245	15561245	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:15561245T>A	ENST00000357607.2	+	16	1851	c.1663T>A	c.(1663-1665)Ttt>Att	p.F555I	BMX_ENST00000348343.6_Missense_Mutation_p.F555I|BMX_ENST00000342014.6_Missense_Mutation_p.F555I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	555	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGTATCTGACTTTGGAATGAC	0.418000													31	115					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	129					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455807	62455807	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62455807C>T	ENST00000317449.4	-	2	651	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	58						integral to membrane				cervix(1)|kidney(1)	2						CCTTGCAGGGCACCTGCAGGT	0.682000													7	24					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430433	78430433	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430433C>T	ENST00000370767.1	-	10	823		c.e10-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCTTGGCTTGCTAAAGCAGAA	0.373000			"""F, N"""		oligodendroglioma								10	54					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	rs139194307	byFrequency	TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398000													4	86					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49031241	49031241	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr15:49031241C>T	ENST00000380950.2	-	27	4525	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	CEP152_ENST00000399334.3_Silent_p.G1390G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1390					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AACTACCATCCCCAAACTGGA	0.448000													11	115					0	0	1	0	0
RP11-812E19.9	0	broad.mit.edu	37	16	33647320	33647320	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr16:33647320C>T	ENST00000558425.1	-	2	279	c.280G>A	c.(280-282)Gcc>Acc	p.A94T																								GAGTTATTGGCGTTGTCCCTG	0.498000													55	182					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57221383	57221383	+	Silent	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr4:57221383A>G	ENST00000205214.6	-	6	1248	c.1068T>C	c.(1066-1068)taT>taC	p.Y356Y	AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000502617.1_Silent_p.Y356Y|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.Y356Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	356					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGGAATCCTATAAATGGTCG	0.368000													9	68					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	9083253	9083253	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:9083253C>T	ENST00000173229.2	+	4	1444	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	446	Laminin EGF-like 3.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAGAGCCGCTCTCCCATCGCC	0.582000													5	52					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697242	99697242	+	Silent	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:99697242T>C	ENST00000303887.5	-	3	891	c.246A>G	c.(244-246)caA>caG	p.Q82Q	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	82					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCAGCAGCTCTTGTACGGCAT	0.532000													43	69					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158454620	158454620	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:158454620T>C	ENST00000355585.4	+	4	694	c.619T>C	c.(619-621)Tct>Cct	p.S207P	SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	207	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCCTCGTCTCTCGCGTTAG	0.622000													4	53					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039171	5039171	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5039171C>T	ENST00000574788.1	+	17	2842	c.612C>T	c.(610-612)gaC>gaT	p.D204D	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.D204D|USP6_ENST00000332776.4_Silent_p.D204D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	204	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGAGGAGGACGCATTCTGGG	0.617000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	66					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205819111	205819111	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:205819111G>T	ENST00000367136.4	-	1	134	c.90C>A	c.(88-90)agC>agA	p.S30R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	30						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGCTCCCCGCTCCTCGGGC	0.602000													4	77					0.184627	0.184627	1	1	0
TTN	7273	broad.mit.edu	37	2	179429186	179429186	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:179429186C>T	ENST00000589042.1	-	326	81897	c.81673G>A	c.(81673-81675)Gta>Ata	p.V27225I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25584	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCTAATACGTTGGTAAAG	0.383000													3	23					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													3	15					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44109649	44109649	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:44109649C>G	ENST00000420999.1	-	5	732	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	217							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTCAGGGTGTCGAGGGATTCG	0.438000													6	33					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101287223	101287223	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr8:101287223G>A	ENST00000519449.1	-	4	1157	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	281					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GATGAAGAACGTATAGTTCTC	0.378000													46	79					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12790221	12790221	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12790221G>T	ENST00000314124.7	-	3	500	c.144C>A	c.(142-144)aaC>aaA	p.N48K	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K|TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	48						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						aagaagaCTTGTTTCTCTCAT	0.448000													47	124					3.76525e-18	4.14177e-18	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78430905	78430906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430905_78430906insT	ENST00000370767.1	-	8	570_571	c.483_484insA	c.(481-486)aaggttfs	p.V162fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.V162fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.V183fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	162	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCAGTAACCGTTTTGCTGACC	0.381			"""F, N"""		oligodendroglioma								8	75	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145610427	145610427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:145610427delC	ENST00000265271.5	+	6	963	c.797delC	c.(796-798)tcfs	p.S266fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	266					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGCTCTTCCAATTCTTTT	0.423													20	80	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711													6	4	---	---	---	---					
ZNF334	55713	broad.mit.edu	37	20	45131690	45131691	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr20:45131690_45131691delAT	ENST00000457685.2	-	6	1496_1497	c.173_174delAT	c.(172-174)cfs	p.H58fs	ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs|ZNF334_ENST00000347606.4_Frame_Shift_Del_p.H96fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTGTGTCAAATGTTTATCTTG	0.351													27	33	---	---	---	---					
U2AF1	7307	broad.mit.edu	37	21	44514659	44514661	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:44514659_44514661delCCT	ENST00000459639.1	-	6	1300_1302	c.276_278delAGG	c.(274-279)cgc>cg	p.RG92del	U2AF1_ENST00000398137.1_In_Frame_Del_p.RG92del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_In_Frame_Del_p.RG165del|U2AF1_ENST00000380276.2_In_Frame_Del_p.RG165del			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	165	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCAGAAGCCGCCTCGTGTGCATT	0.571			Mis		"""CLL, MDS"""								8	63	---	---	---	---					
ALG13	79868	broad.mit.edu	37	X	110988026	110988026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:110988026delT	ENST00000394780.3	+	24	2838	c.2826delT	c.(2824-2826)ccfs	p.P945fs	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	945	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ctcctcctcctcctcctcctg	0.572													2	4	---	---	---	---					
