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
SERPINA9	327657	broad.mit.edu	37	14	94942635	94942635	+	Translation_Start_Site	SNP	T	T	C	rs78913733	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:94942635T>C	ENST00000546329.1	-	0	35				SERPINA9_ENST00000539349.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		gcaaatgatatattattttta	0.383000													4	44					0	0	1	0	0
AIDA	64853	broad.mit.edu	37	1	222885629	222885629	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:222885629G>A	ENST00000340020.6	-	1	237	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	AIDA_ENST00000541237.1_Intron|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R11C	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	11					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GCGCCCCAGCGCTGCAGCAGA	0.672000													3	25					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	12					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19296092	19296092	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:19296092G>A	ENST00000380432.2	+	2	213	c.180G>A	c.(178-180)acG>acA	p.T60T	DENND4C_ENST00000434457.2_Silent_p.T296T|DENND4C_ENST00000602925.1_Silent_p.T296T|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	60						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCTTGTTGACGCCTGTGGAGA	0.393000													10	74					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60074190	60074190	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:60074190G>A	ENST00000267484.5	-	4	2121	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	RTN1_ENST00000342503.4_Missense_Mutation_p.R28W|RTN1_ENST00000395090.1_Missense_Mutation_p.R13W|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	596	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.R596W(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGATGTCCCGCCAATACAAC	0.602000													3	28					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2983865	2983865	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:2983865C>T	ENST00000396946.4	-	5	1068	c.665G>A	c.(664-666)aGc>aAc	p.S222N	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	222					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGGTCTCGGCTCCTCATGAC	0.562000			Mis		DLBCL								23	94					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													5	35					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666923	11666923	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr17:11666923C>A	ENST00000262442.3	+	36	7230	c.7162C>A	c.(7162-7164)Caa>Aaa	p.Q2388K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2388K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2388					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAATGGTCCAAGATCAGGT	0.463000													3	35					0.150653	0.153007	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40316437	40316437	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:40316437A>G	ENST00000593685.1	-	11	2276	c.1808T>C	c.(1807-1809)cTc>cCc	p.L603P	DYRK1B_ENST00000430012.2_Missense_Mutation_p.L563P|DYRK1B_ENST00000597639.1_Missense_Mutation_p.L575P|DYRK1B_ENST00000323039.5_Missense_Mutation_p.L603P|DYRK1B_ENST00000348817.3_Missense_Mutation_p.L575P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	603					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGAGGCGGGAGGGGTGGACG	0.721000													6	16					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19651098	19651098	+	Silent	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:19651098C>T	ENST00000586018.1	+	3	369	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CILP2_ENST00000291495.4_Silent_p.Y83Y			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	83						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCGCTTCTACTACGGGCCAG	0.721000													6	28					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	12					0.184627	0.184627	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116811047	116811047	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:116811047G>A	ENST00000288466.7	+	14	1285	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G489R	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGTGGTCAGCGGGAAGGAGTT	0.587000													16	81					0	0	1	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845444	106845444	+	RNA	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:106845444G>A	ENST00000390617.2	-	0	244																											TGCATAGTGCGTCCTACTGCC	0.527000													50	282					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1333701	1333701	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:1333701G>A	ENST00000400809.3	-	3	390	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	CCNL2_ENST00000408918.4_Missense_Mutation_p.H129Y	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	129	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAAGCCAGGTGGACACAGGCC	0.557000													14	122					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447931	179447931	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:179447931C>T	ENST00000589042.1	-	313	65823	c.65599G>A	c.(65599-65601)Gtg>Atg	p.V21867M	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12927M|TTN_ENST00000342175.6_Missense_Mutation_p.V12994M|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19299M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V12802M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V20226M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20226	Fibronectin type-III 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATAGCCACACTCAGGTCT	0.363000													3	12					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255972	240255972	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:240255972C>T	ENST00000319653.9	+	1	793	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	188					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCTTCCATTCGGCTACGGAG	0.622000													14	88					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274152	103274152	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:103274152T>C	ENST00000233969.2	+	2	561	c.419T>C	c.(418-420)gTa>gCa	p.V140A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	140						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAGACTGATGTATTTTTCTTG	0.463000													29	168					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60048157	60048157	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:60048157G>A	ENST00000337908.4	+	1	99	c.9G>A	c.(7-9)caG>caA	p.Q3Q	MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000532114.1_Silent_p.Q3Q	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	3						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCATGCATCAGACCTACAGCA	0.502000													10	55					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													7	48					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131783493	131783493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:131783493G>A	ENST00000372564.3	-	3	356	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SH3GLB2_ENST00000372559.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000416629.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000417224.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000372554.4_Nonsense_Mutation_p.R71*	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	71	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TCCTCCACTCGGGCACCTGTG	0.597000													10	38					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	G	T	rs79455352	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:23767738G>T	ENST00000300113.2	+	5	805	c.382G>T	c.(382-384)Gat>Tat	p.D128Y		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3.						calcium ion binding	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537000													3	35					6.4e-05	6.81967e-05	1	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794477	140794477	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr5:140794477G>A	ENST00000398610.2	+	1	1735	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACAGGCGTGGAGCTGGC	0.652000													63	626					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433051	49433051	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:49433051G>A	ENST00000301067.7	-	33	8319	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGGTGGCCGGGAGAGTCGG	0.607000													28	119					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1333700	1333700	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:1333700T>A	ENST00000400809.3	-	3	391	c.386A>T	c.(385-387)cAc>cTc	p.H129L	CCNL2_ENST00000408918.4_Missense_Mutation_p.H129L	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	129	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGAAGCCAGGTGGACACAGGC	0.562000													14	125					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5809991	5809991	+	Silent	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:5809991C>T	ENST00000382674.2	+	18	2809	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	EVC_ENST00000264956.6_Silent_p.H875H			P57679	EVC_HUMAN	Ellis van Creveld syndrome	875					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCGTCTGCACGCCCAGCAGC	0.607000													11	63					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	rs72181988		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667000									Androgen Insensitivity Syndrome				4	73					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98031155	98031155	+	Translation_Start_Site	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:98031155T>C	ENST00000224337.5	-	1	142	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BLNK_ENST00000495266.1_Start_Codon_SNP_p.M1V|BLNK_ENST00000371176.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000413476.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000427367.2_Start_Codon_SNP_p.M1V	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	1					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGCTTGTCCATTCTGTTTGGT	0.483000													13	37					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	34					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105349547	105349547	+	Silent	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:105349547T>C	ENST00000453495.1	+	8	984	c.756T>C	c.(754-756)gaT>gaC	p.D252D	CEP170B_ENST00000418279.1_Silent_p.D181D|CEP170B_ENST00000414716.3_Silent_p.D251D|CEP170B_ENST00000556508.1_Silent_p.D181D					centrosomal protein 170B																		CCACGAAGGATGCAGAGGCAG	0.662000													7	121					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:178274739T>G	ENST00000264596.3	+	8	1435	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	439					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373000								Base excision repair (BER), DNA glycosylases					5	44					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													7	50					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52732940	52732940	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr8:52732940C>T	ENST00000360540.5	-	7	1451	c.1045G>A	c.(1045-1047)Gct>Act	p.A349T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A349T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A273T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	349						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTCAAGTAAGCTTTTAAAGAT	0.353000													4	56					0	0	1	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285431	26285431	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr6:26285431G>A	ENST00000289352.1	-	1	331	c.297C>T	c.(295-297)taC>taT	p.Y99Y	HIST1H4H_ENST00000377727.1_Silent_p.Y99Y			P62805	H4_HUMAN	histone cluster 1, H4h	99					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						CACCGAAGCCGTAAAGAGTGC	0.512000										HNSCC(76;0.23)			16	88					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123097066	123097066	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:123097066C>A	ENST00000264501.4	+	6	728	c.355C>A	c.(355-357)Cat>Aat	p.H119N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H119N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H119N			Q2LD37	K1109_HUMAN	KIAA1109	119					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAAGCAACATGGTGAGTT	0.269000													4	41					0.014758	0.0154721	1	1	0
NXF4	55999	broad.mit.edu	37	X	101818299	101818299	+	RNA	SNP	G	G	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:101818299G>T	ENST00000360035.2	+	0	889					NR_002216.1															endometrium(2)|lung(8)	10						GAGGGTTGGTGCTGGTGCTGG	0.517000													21	41					8.34094e-07	9.18917e-07	1	1	0
UTP20	27340	broad.mit.edu	37	12	101740295	101740295	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:101740295T>A	ENST00000261637.4	+	38	4987	c.4813T>A	c.(4813-4815)Tct>Act	p.S1605T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1605					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGTTGTTCTGTCTTCTAAATC	0.368000													13	46					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2189347	2189347	+	Missense_Mutation	SNP	C	C	A	rs139807727		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:2189347C>A	ENST00000381178.1	-	5	661	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	TH_ENST00000381175.1_Missense_Mutation_p.D211Y|TH_ENST00000352909.3_Missense_Mutation_p.D184Y|TH_ENST00000333684.5_Missense_Mutation_p.D188Y	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	215					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGTCAGGGTCGAACTTGGTG	0.582000													16	99					1.15088e-07	1.3124e-07	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	52					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								7	134					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	G	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr9:93375576G>A	ENST00000375765.3	-	2	922	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.I178I(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547000													9	89					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40439977	40439977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:40439977C>A	ENST00000319592.4	-	4	1643	c.934G>T	c.(934-936)Gag>Tag	p.E312*	RBM47_ENST00000514014.1_Nonsense_Mutation_p.E274*|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E312*|RBM47_ENST00000381793.2_Nonsense_Mutation_p.E312*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.E312*			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	312	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCGTGACCTCCAGGCACGAG	0.662000													22	148					8.10497e-08	9.40756e-08	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													4	61					0	0	1	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	RNA	INS	-	-	TG			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252													5	4	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	51737734	51737735	+	RNA	DEL	AA	AA	-	rs13423125	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr2:51737734_51737735delAA	ENST00000440698.1	+	0	694																											TCGGAAAAGGAAAAAAAAAAAG	0.490													3	3	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cfs	p.H479fs	FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													10	38	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													5	7	---	---	---	---					
NFE2L3	9603	broad.mit.edu	37	7	26224608	26224609	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr7:26224608_26224609delCT	ENST00000056233.3	+	4	1549_1550	c.1290_1291delCT	c.(1288-1293)acctfs	p.TS430fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	430					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAATAATACCTCTGTCATCAA	0.406													8	104	---	---	---	---					
ITIH5	80760	broad.mit.edu	37	10	7618686	7618686	+	Frame_Shift_Del	DEL	T	T	-	rs2275069	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:7618686delT	ENST00000256861.6	-	10	1786	c.1708delA	c.(1708-1710)ccfs	p.T570fs	ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	570			T -> P (in dbSNP:rs2275069).		hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGTGGTTGGTGTCCCCCTCT	0.587													8	89	---	---	---	---					
WDR11	55717	broad.mit.edu	37	10	122633434	122633437	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:122633434_122633437delAAGT	ENST00000263461.6	+	11	1801_1802	c.1556_splice	c.e11+1	p.519_splice		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	519						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGTGAAGTCAAGTAAGTATGTCA	0.373													15	47	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													10	428	---	---	---	---					
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggt>gg	p.GSKGGCGSCGG93del	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													83	509	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													15	9	---	---	---	---					
PRMT8	56341	broad.mit.edu	37	12	3649779	3649780	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:3649779_3649780insC	ENST00000382622.3	+	2	473_474	c.83_84insC	c.(82-84)accfs	p.T28fs	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.T19fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	28					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCCC	0.658													7	233	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	248	---	---	---	---					
IPO4	79711	broad.mit.edu	37	14	24655611	24655611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr14:24655611delA	ENST00000354464.6	-	10	1063	c.887delT	c.(886-888)tcfs	p.F296fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CACAATGGGGAAAAGGGTGTG	0.567													7	415	---	---	---	---					
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1																						GGTAActctgtctctctctctc	0.559													4	3	---	---	---	---					
CYLD	1540	broad.mit.edu	37	16	50830344	50830345	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr16:50830344_50830345insGG	ENST00000540145.1	+	19	3211_3212	c.2796_2797insGG	c.(2794-2799)cagctgfs	p.L933fs	CYLD_ENST00000568704.2_Frame_Shift_Ins_p.L748fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000427738.3_Frame_Shift_Ins_p.L933fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.L930fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000311559.9_Frame_Shift_Ins_p.L933fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	933					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGAGAATCCAAGGCTGTGCACG	0.465			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				19	54	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													182	83	---	---	---	---					
MCOLN1	57192	broad.mit.edu	37	19	7592422	7592423	+	Frame_Shift_Ins	INS	-	-	C	rs145706318	byFrequency	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chr19:7592422_7592423insC	ENST00000264079.6	+	5	713_714	c.588_589insC	c.(586-591)gaccccfs	p.DP196fs		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	196					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCAGGTGGATCCCCCCGAGCG	0.639													8	501	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													6	7	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DQ-7593-01A-11D-2229-08	TCGA-DQ-7593-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787781-7308-4964-ad14-1a5222b0278a	9aac5530-cd38-41ce-bdb0-401e137f4bd9	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	386	---	---	---	---					
