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
ZNF276	92822	broad.mit.edu	37	16	89795695	89795695	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr16:89795695G>T	ENST00000289816.5	+	6	1225	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	ZNF276_ENST00000568064.1_Missense_Mutation_p.D288Y|ZNF276_ENST00000443381.2_Missense_Mutation_p.D380Y|ZNF276_ENST00000446326.2_Missense_Mutation_p.D166Y	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D305Y(1)|p.D380Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCAGTCTTCGGACGAGTCCTT	0.547000													37	40					5.04308e-16	7.66548e-16	0.819951	1	0
CROCCP2	84809	broad.mit.edu	37	1	16958833	16958833	+	RNA	SNP	T	T	A	rs28687450	by1000genomes	TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:16958833T>A	ENST00000412962.1	-	0	74																											TCTGCTTCTGTAGACGCTTCA	0.587000													4	22					0	0	0.217242	0	0
C1orf94	84970	broad.mit.edu	37	1	34666416	34666416	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:34666416C>A	ENST00000488417.1	+	3	1173	c.1053C>A	c.(1051-1053)agC>agA	p.S351R	C1orf94_ENST00000373374.3_Missense_Mutation_p.S161R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	161							protein binding	p.S161R(1)|p.S351R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GTCAAGGGAGCCTCTTTCTCA	0.592000													36	7					2.47316e-13	3.43829e-13	0.779181	1	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797677	42797677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:42797677G>T	ENST00000314073.5	+	6	1782	c.1606G>T	c.(1606-1608)Gga>Tga	p.G536*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.G536*					GLTSCR1-like									p.G536*(1)									AAGCATGTCAGGACCTAGTCG	0.552000													39	30					6.97489e-18	1.08923e-17	0.804634	1	0
VWA1	64856	broad.mit.edu	37	1	1372746	1372746	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:1372746C>A	ENST00000338660.5	+	2	344	c.118C>A	c.(118-120)Ccg>Acg	p.P40T	VWA1_ENST00000476993.1_Silent_p.G171G|VWA1_ENST00000404702.3_5'UTR			Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	429	VWFA.					basement membrane		p.G171G(1)		NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCAGCACCGGCCGAGGCAACT	0.632000													15	5					3.45872e-05	3.86563e-05	0.500413	1	0
HDGFRP2	84717	broad.mit.edu	37	19	4493990	4493990	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:4493990C>T	ENST00000301284.4	+	8	914	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.L284F	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		284					transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.L284F(1)									GGAGAAGCCTCTCCCGAAGCC	0.701000													5	1					0	0	0.184627	0	0
ADCY9	115	broad.mit.edu	37	16	4057495	4057495	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr16:4057495G>A	ENST00000294016.3	-	3	2296	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	586					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.A586A(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGAAAGCAAGGCCTCTGCAC	0.527000													32	41					0	0	0.750413	0	0
TFDP1	7027	broad.mit.edu	37	13	114290925	114290925	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr13:114290925G>T	ENST00000375370.5	+	10	1128	c.916G>T	c.(916-918)Gct>Tct	p.A306S	TFDP1_ENST00000538138.1_Missense_Mutation_p.A211S|TFDP1_ENST00000544902.1_Missense_Mutation_p.A211S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	306	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.M305_A306>IS(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GATGGGCATGGCTTGCGGGCT	0.507000										TSP Lung(29;0.18)			26	44					1.38267e-23	2.3526e-23	0.693898	1	0
VPS13B	157680	broad.mit.edu	37	8	100108540	100108540	+	Splice_Site	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr8:100108540G>T	ENST00000395996.1	+	4	403	c.291_splice	c.e4-1	p.D98_splice	VPS13B_ENST00000358544.2_Splice_Site_p.D98_splice|VPS13B_ENST00000357162.2_Splice_Site_p.D98_splice|VPS13B_ENST00000355155.1_Splice_Site_p.D98_splice|VPS13B_ENST00000441350.2_Splice_Site_p.D98_splice			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	98					protein transport			p.D98Y(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAAAAATAGGATGACCATGA	0.358000													28	50					1.06801e-11	1.38356e-11	0.740014	1	0
PTPRD	5789	broad.mit.edu	37	9	8521415	8521415	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr9:8521415C>T	ENST00000381196.4	-	17	1366	c.823G>A	c.(823-825)Gat>Aat	p.D275N	PTPRD_ENST00000356435.5_Missense_Mutation_p.D275N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D275N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D275N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D265N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D265N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D272N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D275N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D262N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D262N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D272N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	275	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D275N(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGTCAGATCTTCTGCCCCC	0.448000										TSP Lung(15;0.13)			28	17					0	0	0.740014	0	0
ANK2	287	broad.mit.edu	37	4	114238920	114238920	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:114238920G>T	ENST00000357077.4	+	25	2804	c.2751G>T	c.(2749-2751)agG>agT	p.R917S	ANK2_ENST00000506722.1_Missense_Mutation_p.R896S|ANK2_ENST00000394537.3_Missense_Mutation_p.R917S|ANK2_ENST00000509550.1_Missense_Mutation_p.R126S|ANK2_ENST00000264366.6_Missense_Mutation_p.R917S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	917					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R917S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTACCTGAGGGACAGTGCCG	0.498000													11	24					3.07112e-06	3.57252e-06	0.387290	1	0
CRX	1406	broad.mit.edu	37	19	48339553	48339553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:48339553G>T	ENST00000221996.7	+	3	360	c.154G>T	c.(154-156)Gag>Tag	p.E52*	CRX_ENST00000539067.1_Nonsense_Mutation_p.E52*|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	52					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E52*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCCAACTGGAGGAGCTGGA	0.627000													26	9					3.01185e-09	3.73207e-09	0.667858	1	0
MC3R	4159	broad.mit.edu	37	20	54824041	54824041	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:54824041C>A	ENST00000243911.2	+	1	254	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	85					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.L85M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TTTCCTGTCTCTGGGCATCGT	0.572000													40	45					4.67007e-22	7.60553e-22	0.840704	1	0
AQP12B	653437	broad.mit.edu	37	2	241621975	241621975	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:241621975G>T	ENST00000407834.3	-	1	342	c.280C>A	c.(280-282)Ccc>Acc	p.P94T		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	82						integral to membrane	transporter activity	p.P94N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GACACGGTGGGGTTGGCCGAG	0.697000													23	25					3.28513e-13	4.45839e-13	0.667858	1	0
TAGAP	117289	broad.mit.edu	37	6	159456981	159456981	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:159456981G>T	ENST00000367066.3	-	10	2405	c.2074C>A	c.(2074-2076)Ctc>Atc	p.L692I	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.L514I|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	692					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.L692I(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCAGCGGGAGGAGCTCAGGT	0.602000													36	39					1.08052e-11	1.38404e-11	0.796494	1	0
RYR2	6262	broad.mit.edu	37	1	237777543	237777543	+	Silent	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:237777543G>T	ENST00000366574.2	+	37	5432	c.5115G>T	c.(5113-5115)ctG>ctT	p.L1705L	RYR2_ENST00000542537.1_Silent_p.L1689L|RYR2_ENST00000360064.6_Silent_p.L1703L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1705	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L1703L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTATGACCTGCTGATTGACA	0.537000													60	24					3.07184e-27	5.47172e-27	0.870114	1	0
MKI67	4288	broad.mit.edu	37	10	129905293	129905293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:129905293G>C	ENST00000368654.3	-	13	5186	c.4811C>G	c.(4810-4812)tCa>tGa	p.S1604*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.S1244*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1604	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.S1604*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTAGTCATTGATTCCTCAGT	0.498000													79	119					0	0	0.870114	0	0
TFDP1	7027	broad.mit.edu	37	13	114290924	114290924	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr13:114290924G>T	ENST00000375370.5	+	10	1127	c.915G>T	c.(913-915)atG>atT	p.M305I	TFDP1_ENST00000538138.1_Missense_Mutation_p.M210I|TFDP1_ENST00000544902.1_Missense_Mutation_p.M210I	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	305	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.M305_A306>IS(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGATGGGCATGGCTTGCGGGC	0.502000										TSP Lung(29;0.18)			27	43					2.49675e-24	4.37891e-24	0.717897	1	0
SOHLH2	54937	broad.mit.edu	37	13	36788621	36788621	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr13:36788621C>T	ENST00000379881.3	-	1	131	c.43G>A	c.(43-45)Ggc>Agc	p.G15S	SOHLH2_ENST00000554962.1_Intron|SOHLH2_ENST00000317764.6_Missense_Mutation_p.G15S|CCDC169-SOHLH2_ENST00000511166.1_Intron	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.G15S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTTACCTGGCCCGAGATCTGG	0.672000													4	6					0	0	0.150653	0	0
OXTR	5021	broad.mit.edu	37	3	8809379	8809379	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:8809379C>T	ENST00000316793.3	-	3	1119	c.495G>A	c.(493-495)ctG>ctA	p.L165L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	165					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	p.L165L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CGCTGGCCACCAGGCAGCCGA	0.711000													7	1					0	0	0.361761	0	0
TRIO	7204	broad.mit.edu	37	5	14359507	14359507	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:14359507C>T	ENST00000344204.4	+	13	2282	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	TRIO_ENST00000537187.1_Missense_Mutation_p.S753F|TRIO_ENST00000509967.2_Missense_Mutation_p.S704F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	753					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.S753F(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAACAGCTCCATCAACCAC	0.547000													30	31					0	0	0.760397	0	0
PHKG1	5260	broad.mit.edu	37	7	56149703	56149703	+	Silent	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:56149703G>T	ENST00000452681.2	-	9	920	c.771C>A	c.(769-771)gcC>gcA	p.A257A	PHKG1_ENST00000537360.1_Silent_p.A171A|PHKG1_ENST00000297373.2_Silent_p.A225A	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	225	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.A225A(1)		endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCGGGGAGCCGGCCAGCAGCG	0.647000													12	16					2.80697e-09	3.51643e-09	0.387290	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	14					0.00400662	0.00422921	0.500413	1	0
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													3	20					6.4e-05	6.94857e-05	0.115264	1	0
SLC13A3	64849	broad.mit.edu	37	20	45221081	45221081	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:45221081C>A	ENST00000279027.4	-	6	900	c.882G>T	c.(880-882)tgG>tgT	p.W294C	SLC13A3_ENST00000472148.1_Missense_Mutation_p.W247C|SLC13A3_ENST00000396360.1_Missense_Mutation_p.W247C|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.W244C|SLC13A3_ENST00000290317.5_Missense_Mutation_p.W247C|SLC13A3_ENST00000372121.1_Missense_Mutation_p.W244C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.W247C	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	294						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.W294C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGATCCAGAGCCAGCCTGCCA	0.512000													14	21					0.000219431	0.000235992	0.457914	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723683	140723683	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:140723683C>A	ENST00000253812.6	+	1	83	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.S28Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	110					1.92282e-43	3.65336e-43	0.870114	1	0
GSAP	54103	broad.mit.edu	37	7	76950085	76950085	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:76950085C>T	ENST00000257626.7	-	26	2124	c.2046G>A	c.(2044-2046)agG>agA	p.R682R	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Silent_p.R3R	NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.R682R(1)									CTTCCAGAATCCTGGTCATGA	0.408000													16	32					0	0	0.539581	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126186	62126186	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:62126186C>A	ENST00000217182.3	-	4	758	c.593G>T	c.(592-594)gGt>gTt	p.G198V	EEF1A2_ENST00000298049.7_Missense_Mutation_p.G198V	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	198						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.G198V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CATGTTGTCACCGTGCCAGCC	0.667000													17	16					4.96729e-08	6.02416e-08	0.575678	1	0
OR4M2	390538	broad.mit.edu	37	15	22368728	22368728	+	Silent	SNP	A	A	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:22368728A>G	ENST00000332663.2	+	1	251	c.153A>G	c.(151-153)ctA>ctG	p.L51L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L51L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCATCAGTCTAGACCCTCATC	0.418000													161	1275					0	0	0.870114	0	0
PQLC1	80148	broad.mit.edu	37	18	77679237	77679237	+	Silent	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:77679237C>A	ENST00000397778.2	-	5	737	c.555G>T	c.(553-555)ctG>ctT	p.L185L	PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000409073.1_Silent_p.L102L|PQLC1_ENST00000357575.4_Silent_p.L167L	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	185	PQ-loop 2.					integral to membrane		p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGGGCACACCCAGCATGGCTT	0.652000													13	23					5.50884e-06	6.28007e-06	0.411799	1	0
TTC21B	79809	broad.mit.edu	37	2	166747433	166747433	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:166747433G>A	ENST00000243344.7	-	23	3153	c.3016C>T	c.(3016-3018)Cca>Tca	p.P1006S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1006						cilium axoneme|cytoplasm|cytoskeleton	binding	p.P1006S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAAAATCTTGGGACATCCTCG	0.348000													25	36					0	0	0.654019	0	0
PDE1C	5137	broad.mit.edu	37	7	31877567	31877567	+	Silent	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:31877567T>A	ENST00000396184.3	-	11	1203	c.999A>T	c.(997-999)gtA>gtT	p.V333V	PDE1C_ENST00000396182.2_Silent_p.V333V|PDE1C_ENST00000396193.1_Silent_p.V393V|PDE1C_ENST00000396191.1_Silent_p.V333V|PDE1C_ENST00000321453.7_Silent_p.V333V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	333	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.V333V(2)|p.V393V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCATTTCAATTACCAAGGTTC	0.408000													100	145					0	0	0.870114	0	0
EPHA3	2042	broad.mit.edu	37	3	89448468	89448468	+	Splice_Site	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:89448468C>A	ENST00000336596.2	+	7	1657	c.1431_splice	c.e7-1	p.Q478_splice	EPHA3_ENST00000452448.2_Splice_Site_p.Q478_splice|EPHA3_ENST00000494014.1_Splice_Site_p.Q478_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	478	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding	p.Q478K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACCTCAAAGCAGGAACAAGA	0.343000										TSP Lung(6;0.00050)			25	10					6.38683e-12	8.36895e-12	0.729181	1	0
CBX2	84733	broad.mit.edu	37	17	77758474	77758474	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr17:77758474G>T	ENST00000310942.4	+	5	1336	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	411					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.S411I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACAAGCAAAAGTGAGAAGCTG	0.662000													6	18					3.59834e-05	3.98262e-05	0.217242	1	0
WFDC12	128488	broad.mit.edu	37	20	43752488	43752488	+	Nonstop_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:43752488C>A	ENST00000372785.3	-	3	352	c.335G>T	c.(334-336)tGa>tTa	p.*112L		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	0					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity	p.*112L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				GACCCAGCATCATTTCTGAGG	0.547000													3	56					0.115264	0.118379	0.115264	1	0
ADAM10	102	broad.mit.edu	37	15	58889786	58889786	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:58889786C>A	ENST00000260408.3	-	16	2650	c.2207G>T	c.(2206-2208)cGg>cTg	p.R736L	ADAM10_ENST00000396140.2_Missense_Mutation_p.R435L|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	736					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.R736L(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTCTCGGGGCCGCTGACGCTG	0.478000													21	35					3.28513e-13	4.45839e-13	0.667858	1	0
ANK2	287	broad.mit.edu	37	4	114095577	114095577	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:114095577C>A	ENST00000357077.4	+	2	143	c.90C>A	c.(88-90)gaC>gaA	p.D30E	ANK2_ENST00000506722.1_Missense_Mutation_p.D9E|ANK2_ENST00000394537.3_Missense_Mutation_p.D30E|ANK2_ENST00000264366.6_Missense_Mutation_p.D30E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	30					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.D30E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGCAGTCTGACAGCAATGCAA	0.403000													11	12					3.86212e-05	4.23348e-05	0.361761	1	0
IGHA1	3493	broad.mit.edu	37	14	106173620	106173620	+	RNA	SNP	C	C	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr14:106173620C>G	ENST00000390547.2	-	0	946																											GGCCTCGTGGCCCACCATGCA	0.632000													11	64					0	0	0.361761	0	0
INADL	10207	broad.mit.edu	37	1	62235060	62235060	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:62235060G>T	ENST00000371158.2	+	5	604	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	INADL_ENST00000316485.6_Missense_Mutation_p.V164L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	164	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.V164L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGATATCTTCGTGAAGGATGT	0.398000													63	87					1.38705e-31	2.5099e-31	0.870114	1	0
SNED1	25992	broad.mit.edu	37	2	242009519	242009519	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:242009519G>A	ENST00000310397.8	+	24	3492	c.3492G>A	c.(3490-3492)ctG>ctA	p.L1164L	SNED1_ENST00000401884.1_Silent_p.L1164L|SNED1_ENST00000405547.3_Silent_p.L1164L|SNED1_ENST00000342631.6_Silent_p.L1164L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1164	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding	p.L1164L(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCGCGACCTGCTGCCGGGAC	0.632000													11	11					0	0	0.387290	0	0
ADARB1	104	broad.mit.edu	37	21	46624492	46624492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr21:46624492G>T	ENST00000539173.1	+	10	2143	c.1708G>T	c.(1708-1710)Gga>Tga	p.G570*	ADARB1_ENST00000389863.4_Nonsense_Mutation_p.G570*|ADARB1_ENST00000360697.3_Nonsense_Mutation_p.G570*|ADARB1_ENST00000348831.4_Nonsense_Mutation_p.G530*|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	570	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.G570*(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGGCATCCAGGGATCCCTGCT	0.592000													32	19					8.88839e-20	1.40733e-19	0.750413	1	0
PTENP1	11191	broad.mit.edu	37	9	33676271	33676271	+	RNA	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr9:33676271C>T	ENST00000532280.1	-	0	1226					NR_023917.1																						CGTCCCTTTCCAGCTTTACAG	0.398000													56	27					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9075084	9075084	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:9075084G>T	ENST00000397910.4	-	3	12565	c.12362C>A	c.(12361-12363)aCt>aAt	p.T4121N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4123	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4121N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCAGTGGAGTCCCTGTCCA	0.502000													34	12					5.91797e-21	9.50209e-21	0.760397	1	0
IPO8	10526	broad.mit.edu	37	12	30814173	30814173	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:30814173T>A	ENST00000256079.4	-	16	2121	c.1783A>T	c.(1783-1785)Agt>Tgt	p.S595C	IPO8_ENST00000544829.1_Missense_Mutation_p.S390C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	595					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.S595C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TATTCATCACTTTGAAGAACT	0.328000													28	28					0	0	0.693898	0	0
SPATA18	132671	broad.mit.edu	37	4	52943040	52943040	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:52943040G>A	ENST00000295213.4	+	7	1228	c.854G>A	c.(853-855)aGa>aAa	p.R285K	SPATA18_ENST00000419395.2_Missense_Mutation_p.R253K	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	285	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.R285K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCAGGAGACCGTCCCCA	0.667000													14	22					0	0	0.457914	0	0
MTMR14	64419	broad.mit.edu	37	3	9704014	9704014	+	Silent	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:9704014G>T	ENST00000296003.4	+	3	494	c.372G>T	c.(370-372)cgG>cgT	p.R124R	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.R124R|MTMR14_ENST00000353332.5_Silent_p.R124R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	124						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.R124R(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AGATGGCCCGGTGCAGAGGAC	0.532000													18	6					2.35188e-11	2.97905e-11	0.539581	1	0
B4GALT6	9331	broad.mit.edu	37	18	29206995	29206995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:29206995C>A	ENST00000306851.5	-	7	1162	c.866G>T	c.(865-867)gGa>gTa	p.G289V	B4GALT6_ENST00000237019.7_Missense_Mutation_p.G250V|B4GALT6_ENST00000383131.3_Missense_Mutation_p.G250V	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	289					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	p.G289V(1)|p.G289E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCCTCCCCATCCCCAGAAGGC	0.338000													43	56					1.06522e-23	1.83993e-23	0.864702	1	0
UGT2B4	7363	broad.mit.edu	37	4	70361157	70361157	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:70361157C>A	ENST00000305107.6	-	1	469	c.423G>T	c.(421-423)caG>caT	p.Q141H	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Q141H	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	141					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.Q141H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATCTTGACTCCTGTAGTTTCT	0.368000													7	15					5.18039e-06	5.9653e-06	0.278610	1	0
VHLL	391104	broad.mit.edu	37	1	156268923	156268923	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:156268923C>A	ENST00000339922.3	-	1	505	c.58G>T	c.(58-60)Gca>Tca	p.A20S		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	20					protein ubiquitination	nucleus		p.A20S(1)		endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					TCTGGGCCTGCCTCCTGGGTG	0.637000													27	78					2.2171e-23	3.71691e-23	0.740014	1	0
DSG3	1830	broad.mit.edu	37	18	29054174	29054174	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:29054174C>A	ENST00000257189.4	+	15	2275	c.2192C>A	c.(2191-2193)tCt>tAt	p.S731Y		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	731					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S731Y(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCACTGAATCTGGAGGTGCT	0.517000													20	37					5.45024e-15	8.17536e-15	0.654019	1	0
TNN	63923	broad.mit.edu	37	1	175048765	175048765	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:175048765G>T	ENST00000239462.4	+	3	819	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	236	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D236Y(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCCCGGCGACTGCAGCGG	0.667000													13	6					4.3838e-07	5.20576e-07	0.435327	1	0
STK11	6794	broad.mit.edu	37	19	1220448	1220448	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:1220448A>T	ENST00000326873.7	+	4	1714	c.541A>T	c.(541-543)Aac>Tac	p.N181Y		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	181	Protein kinase.		N -> E (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.N181Y(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCCGGGGAACCTGCTGCT	0.662000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	1					0	0	0.217242	0	0
ZNF350	59348	broad.mit.edu	37	19	52468837	52468837	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:52468837T>C	ENST00000243644.4	-	5	1096	c.869A>G	c.(868-870)tAt>tGt	p.Y290C	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	290					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	p.Y290C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ACTGCATATATAGGGTTTCTC	0.398000													3	95					0	0	0.115264	0	0
RUNX2	860	broad.mit.edu	37	6	45480133	45480133	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:45480133G>T	ENST00000371438.1	+	6	1368	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M	RUNX2_ENST00000371432.3_Missense_Mutation_p.R323M|RUNX2_ENST00000576263.1_Missense_Mutation_p.R337M|RUNX2_ENST00000541979.1_Missense_Mutation_p.R405M|RUNX2_ENST00000352853.5_Missense_Mutation_p.R405M|RUNX2_ENST00000371436.6_Missense_Mutation_p.R337M|RUNX2_ENST00000359524.5_Missense_Mutation_p.R323M|RUNX2_ENST00000465038.2_Missense_Mutation_p.R337M	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	337	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R337M(1)|p.R405M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATGTGCCTAGGCGCATTTCA	0.592000													46	38					2.77807e-22	4.58985e-22	0.864702	1	0
GPR98	84059	broad.mit.edu	37	5	90020785	90020785	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:90020785G>T	ENST00000405460.2	+	46	9981	c.9885G>T	c.(9883-9885)caG>caT	p.Q3295H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3295					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.Q3295H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCGATGGCAGGGGATTTTTA	0.284000													15	24					7.93312e-07	9.32346e-07	0.457914	1	0
ATP6AP1	537	broad.mit.edu	37	X	153662571	153662571	+	Silent	SNP	C	C	T	rs138051216		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chrX:153662571C>T	ENST00000369762.2	+	7	763	c.702C>T	c.(700-702)gcC>gcT	p.A234A	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	234					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.A234A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGATGTAGCCGTGGTGGCCG	0.582000													3	43					0	0	0.115264	0	0
PXDN	7837	broad.mit.edu	37	2	1652105	1652105	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:1652105C>T	ENST00000252804.4	-	17	3497	c.3447G>A	c.(3445-3447)acG>acA	p.T1149T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1149					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T1149T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGAGCCACCGTGTGTGCCA	0.652000													32	53					0	0	0.769981	0	0
OTOGL	283310	broad.mit.edu	37	12	80717602	80717602	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:80717602C>A	ENST00000458043.2	+	34	4160	c.4154C>A	c.(4153-4155)gCa>gAa	p.A1385E	OTOGL_ENST00000547103.1_Missense_Mutation_p.A1385E	NM_173591.3	NP_775862.3			otogelin-like									p.A1385E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAAGCACTAGCATGTAAATTT	0.378000													26	6					1.17739e-12	1.56073e-12	0.693898	1	0
GRK5	2869	broad.mit.edu	37	10	121196346	121196346	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:121196346G>A	ENST00000392870.2	+	9	1251	c.922G>A	c.(922-924)Gtc>Atc	p.V308I	GRK5_ENST00000369108.3_Missense_Mutation_p.V203I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	308	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.V308I(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGAGAACACCGTCTACCGGTG	0.607000													10	9					0	0	0.335167	0	0
AQP12B	653437	broad.mit.edu	37	2	241621974	241621974	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:241621974G>T	ENST00000407834.3	-	1	343	c.281C>A	c.(280-282)cCc>cAc	p.P94H		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	82						integral to membrane	transporter activity	p.P94N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGACACGGTGGGGTTGGCCGA	0.697000													23	26					1.64293e-13	2.34118e-13	0.654019	1	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	11					0	0	0.150653	0	0
TMEM53	79639	broad.mit.edu	37	1	45120854	45120854	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:45120854G>A	ENST00000372237.3	-	3	374	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	TMEM53_ENST00000372242.3_Missense_Mutation_p.P71S|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	71						integral to membrane		p.P71S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ATGTGCCACGGGGCTGTGTAT	0.552000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	0.479597	0	0
ZNF789	285989	broad.mit.edu	37	7	99077308	99077308	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:99077308G>T	ENST00000483089.1	+	4	353	c.28G>T	c.(28-30)Gcg>Tcg	p.A10S	ZNF789_ENST00000331410.5_Missense_Mutation_p.A17S|ZNF789_ENST00000493485.1_Missense_Mutation_p.A10S|ZNF789_ENST00000379724.3_Missense_Mutation_p.A17S|ZNF789_ENST00000448667.1_Missense_Mutation_p.A10S			Q5FWF6	ZN789_HUMAN	zinc finger protein 789	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A17S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAGGATGTGGCGATGTACTT	0.468000													27	44					1.04121e-07	1.24945e-07	0.693898	1	0
APOB	338	broad.mit.edu	37	2	21234296	21234296	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:21234296C>A	ENST00000233242.1	-	26	5571	c.5444G>T	c.(5443-5445)cGg>cTg	p.R1815L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1815					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R1815L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGTTCTAGCCGTAGTTTCCC	0.413000													83	125					5.71386e-39	1.06784e-38	0.870114	1	0
SPATA5	166378	broad.mit.edu	37	4	123855380	123855380	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:123855380A>T	ENST00000274008.3	+	5	703	c.634A>T	c.(634-636)Act>Tct	p.T212S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	212					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.T212S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGACTCTGACACTGATGCCCA	0.483000													32	48					0	0	0.788014	0	0
SF3B4	10262	broad.mit.edu	37	1	149898433	149898433	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:149898433C>G	ENST00000271628.8	-	3	1125	c.541G>C	c.(541-543)Gac>Cac	p.D181H		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	181						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.D181H(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCCTTGGAGTCCTTCTTGAAG	0.522000													34	43					0	0	0.788014	0	0
CWC27	10283	broad.mit.edu	37	5	64267586	64267586	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:64267586T>A	ENST00000381070.3	+	12	1316	c.1099T>A	c.(1099-1101)Tat>Aat	p.Y367N	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	367					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.Y367N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGCAAAAGTATGAAGCTTT	0.373000													19	29					0	0	0.624587	0	0
HIST1H4J	8363	broad.mit.edu	37	6	27792201	27792201	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:27792201G>A	ENST00000355057.1	+	1	318	c.299G>A	c.(298-300)gGt>gAt	p.G100D		NM_021968.3	NP_068803.1	P62805	H4_HUMAN	histone cluster 1, H4j	100					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G100D(1)		lung(2)|ovary(1)|pancreas(1)	4						ACCCTCTACGGTTTCGGTGGT	0.567000													6	23					0	0	0.435327	0	0
SREBF1	6720	broad.mit.edu	37	17	17720399	17720399	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr17:17720399T>C	ENST00000355815.4	-	10	1917	c.1748A>G	c.(1747-1749)aAt>aGt	p.N583S	SREBF1_ENST00000338854.5_Missense_Mutation_p.N553S|SREBF1_ENST00000261646.5_Missense_Mutation_p.N553S|SREBF1_ENST00000395757.1_Missense_Mutation_p.N299S	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	553					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	p.N583S(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CAACAGCCCATTGAGCAGCCA	0.627000													37	37					0	0	0.853193	0	0
TTLL9	164395	broad.mit.edu	37	20	30510852	30510852	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:30510852A>G	ENST00000375938.4	+	8	913	c.660A>G	c.(658-660)atA>atG	p.I220M	TTLL9_ENST00000310998.4_Missense_Mutation_p.I170M|TTLL9_ENST00000375921.2_Missense_Mutation_p.I147M|TTLL9_ENST00000375934.4_Missense_Mutation_p.I202M|TTLL9_ENST00000375922.4_Missense_Mutation_p.I147M|TTLL9_ENST00000535842.1_Missense_Mutation_p.I220M			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	220	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	p.I220M(1)|p.I165M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTACCTGATAGGAGGTGAGA	0.483000													38	37					0	0	0.819951	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995628	140995628	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chrX:140995628C>T	ENST00000285879.4	+	4	2724	c.2438C>T	c.(2437-2439)cCt>cTt	p.P813L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	813							protein binding	p.P813L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGTCCTGTGAGCTCC	0.547000										HNSCC(15;0.026)			104	60					0	0	0.870114	0	0
IL6R	3570	broad.mit.edu	37	1	154401899	154401899	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:154401899A>T	ENST00000368485.3	+	2	750	c.313A>T	c.(313-315)Act>Tct	p.T105S	IL6R_ENST00000344086.4_Missense_Mutation_p.T105S	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	105	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.T105S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCAGCTGGGACTGTGCACTT	0.587000													38	16					0	0	0.834066	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													3	26					0	0	0.217242	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128838914	128838914	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr11:128838914G>A	ENST00000310343.9	-	22	6151	c.6152C>T	c.(6151-6153)cCt>cTt	p.P2051L	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1702L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1702L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2051	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.P2051L(1)|p.P1702L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGAAAGCCAGGGGGCACATA	0.577000													6	4					0	0	0.248553	0	0
KCNA5	3741	broad.mit.edu	37	12	5154155	5154155	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:5154155T>A	ENST00000252321.3	+	1	1071	c.842T>A	c.(841-843)cTg>cAg	p.L281Q		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	281						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L281*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAACGTGAGCTGCTCCGCCAC	0.692000													18	45					0	0	0.706142	0	0
PTPRG	5793	broad.mit.edu	37	3	62189079	62189079	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:62189079G>T	ENST00000474889.1	+	12	1987	c.1610G>T	c.(1609-1611)cGc>cTc	p.R537L	PTPRG_ENST00000295874.10_Missense_Mutation_p.R537L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	537					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R537L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGGCCCACGCGCCTCCCGACG	0.687000													5	1					0.0293803	0.0304487	0.248553	1	0
MKI67	4288	broad.mit.edu	37	10	129903806	129903806	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:129903806T>C	ENST00000368654.3	-	13	6673	c.6298A>G	c.(6298-6300)Aaa>Gaa	p.K2100E	MKI67_ENST00000368653.3_Missense_Mutation_p.K1740E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2100	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.K2100E(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGCTATTTTGGTAGTTTTG	0.483000													161	224					0	0	0.870114	0	0
KCNA5	3741	broad.mit.edu	37	12	5154154	5154154	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:5154154C>T	ENST00000252321.3	+	1	1070	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	281						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L281M(1)|p.L281*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGAACGTGAGCTGCTCCGCCA	0.692000													17	44					0	0	0.681144	0	0
ITGB8	3696	broad.mit.edu	37	7	20418673	20418673	+	Splice_Site	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:20418673G>T	ENST00000222573.3	+	4	1072		c.e4-1		ITGB8_ENST00000537992.1_Splice_Site	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TATTGAACTAGGAGCCGAAGC	0.328000													35	68					1.67305e-13	2.35466e-13	0.819951	1	0
CCDC41	51134	broad.mit.edu	37	12	94772782	94772782	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:94772782T>C	ENST00000397809.5	-	7	1135	c.586A>G	c.(586-588)Aac>Gac	p.N196D	CCDC41_ENST00000397807.2_Missense_Mutation_p.N163D|CCDC41_ENST00000339839.5_Missense_Mutation_p.N196D|CCDC41_ENST00000547575.1_Missense_Mutation_p.N196D|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	188								p.N196D(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AGCAGCTGGTTACGTAGTTCT	0.328000													55	28					0	0	0.870114	0	0
OR7E24	26648	broad.mit.edu	37	19	9362240	9362240	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:9362240C>A	ENST00000456448.1	+	1	635	c.521C>A	c.(520-522)tCc>tAc	p.S174Y		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S174Y(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTTTTGGACTCCCAGTTGCAC	0.438000													14	8					0.00185496	0.00197631	0.435327	1	0
L3MBTL4	91133	broad.mit.edu	37	18	6241361	6241361	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:6241361C>G	ENST00000400104.3	-	8	748	c.548G>C	c.(547-549)aGt>aCt	p.S183T	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S183T|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S183T|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S183T|L3MBTL4_ENST00000535782.1_5'UTR			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	183					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S183T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACTTACAGGACTTCTGTTTCT	0.289000													73	128					0	0	0.870114	0	0
FRAS1	80144	broad.mit.edu	37	4	79428721	79428721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:79428721C>T	ENST00000264895.6	+	62	9903	c.9463C>T	c.(9463-9465)Cag>Tag	p.Q3155*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3150					cell communication	integral to membrane|plasma membrane	metal ion binding	p.Q3156*(1)|p.Q3155*(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AATTCTAGACCAGGAGGCAGC	0.512000													16	29					0	0	0.520397	0	0
ABCC2	1244	broad.mit.edu	37	10	101560182	101560182	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:101560182G>A	ENST00000370449.4	+	9	1184	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	357	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L357L(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACACATATTTGTGGATTGGAT	0.453000													161	221					0	0	0.870114	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758678	62758678	+	RNA	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:62758678C>A	ENST00000331425.6	-	0	199					NR_003952.1																						TCTCTAACATCACATGTCTAT	0.378000													24	142					5.61819e-17	8.65505e-17	0.693898	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	115					0	0	0.150653	0	0
LOC645752	645752	broad.mit.edu	37	15	78210825	78210825	+	RNA	SNP	A	A	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:78210825A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCTTTTTCTCATTGTTCTGGA	0.542000													5	47					0	0	0.248553	0	0
RIMS2	9699	broad.mit.edu	37	8	104928660	104928660	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr8:104928660G>T	ENST00000507740.1	+	6	1591	c.1355G>T	c.(1354-1356)tGg>tTg	p.W452L	RIMS2_ENST00000436393.2_Missense_Mutation_p.W422L|RIMS2_ENST00000262231.10_Missense_Mutation_p.W499L|RIMS2_ENST00000406091.3_Missense_Mutation_p.W644L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	722					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.W452L(2)|p.W727L(1)|p.W644L(1)|p.W422L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTATTAGAATGGAATGGAAGA	0.353000										HNSCC(12;0.0054)			34	45					2.20474e-14	3.26415e-14	0.788014	1	0
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:43519460C>A	ENST00000401740.1	-	4	875	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	PSG11_ENST00000320078.7_Missense_Mutation_p.D258Y|PSG11_ENST00000306322.7_Missense_Mutation_p.D136Y|PSG11_ENST00000403486.1_Missense_Mutation_p.D136Y			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	258	Ig-like C2-type 2.				female pregnancy	extracellular region		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448000													125	86					3.42828e-54	6.62413e-54	0.870114	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20490577	20490577	+	RNA	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:20490577C>A	ENST00000555186.1	+	0	557					NR_038836.1																						CCTTAAGACACTGTGGCTTCA	0.473000													77	1328					4.29476e-34	7.89682e-34	0.870114	1	0
EIF2AK4	440275	broad.mit.edu	37	15	40284993	40284993	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:40284993A>T	ENST00000263791.5	+	18	2753	c.2710A>T	c.(2710-2712)Act>Tct	p.T904S	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T876S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	904	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.T904S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GATGGTTGGCACTGCTCTCTA	0.418000													37	50					0	0	0.840704	0	0
PLB1	151056	broad.mit.edu	37	2	28748151	28748151	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:28748151G>A	ENST00000422425.2	+	5	305	c.261G>A	c.(259-261)acG>acA	p.T87T	PLB1_ENST00000327757.5_Silent_p.T87T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	87	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.T87T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCCAGGGACGGGCGATCTGG	0.507000													12	16					0	0	0.457914	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	30					0	0	0.115264	0	0
SPATA6	54558	broad.mit.edu	37	1	48764544	48764556	+	Frame_Shift_Del	DEL	GCCACGTGGCTGC	GCCACGTGGCTGC	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:48764544_48764556delGCCACGTGGCTGC	ENST00000371847.3	-	13	1460_1472	c.1296_1308delGCAGCCACGTGGC	c.(1294-1308)cafs	p.QQPRG432fs	SPATA6_ENST00000396199.3_Frame_Shift_Del_p.QQPRG360fs|SPATA6_ENST00000371843.3_Frame_Shift_Del_p.QQPRG416fs	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	432					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AATGGAAAGTGCCACGTGGCTGCTGACATGAGC	0.385													23	84	---	---	---	---					
TLK1	9874	broad.mit.edu	37	2	171854326	171854337	+	Splice_Site	DEL	GTAAATACCTGT	GTAAATACCTGT	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:171854326_171854337delGTAAATACCTGT	ENST00000442919.2	-	19	2376_2383	c.1760_splice	c.e19-1	p.C587_splice	TLK1_ENST00000434911.2_Splice_Site_p.C539_splice|TLK1_ENST00000521943.1_Splice_Site_p.C587_splice|TLK1_ENST00000360843.3_Splice_Site_p.C656_splice|TLK1_ENST00000431350.2_Splice_Site_p.C635_splice	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	635	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CACTCAGGAGGTAAATACCTGTAAGTTTTGTG	0.344													50	121	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125642556	125642557	+	RNA	INS	-	-	C	rs112362688		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:125642556_125642557insC	ENST00000485843.1	+	0	332					NR_024251.1																						ATCATCTCCCAGGCATCACAGG	0.579													5	1	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													7	194	---	---	---	---					
RP11-504G3.4	0	broad.mit.edu	37	11	18617667	18617667	+	RNA	DEL	T	T	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr11:18617667delT	ENST00000541939.1	-	0	379																											ATCCCACAAATTAGACCATGC	0.517													2	4	---	---	---	---					
MRGPRX1	259249	broad.mit.edu	37	11	18956320	18956320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr11:18956320delG	ENST00000302797.3	-	1	236	c.12delC	c.(10-12)acfs	p.T4fs	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	4					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTGAGATGGTTGGATCCA	0.512													118	191	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65273658	65273659	+	RNA	INS	-	-	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr11:65273658_65273659insT	ENST00000534336.1	+	0	8426_8427					NR_002819.2																						GCTTTGACTACTAATCTGTCTT	0.436													24	59	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs41550117		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)cca>cGCAca	p.53_53P>RT	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)					6	9	---	---	---	---					
ZBED4	9889	broad.mit.edu	37	22	50277679	50277679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr22:50277679delT	ENST00000216268.4	+	2	846	c.369delT	c.(367-369)cafs	p.H123fs		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	123						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGAAGCATTTTTTTATCT	0.512													21	15	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110494814	110494824	+	Frame_Shift_Del	DEL	AGGGGTTTCTC	AGGGGTTTCTC	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chrX:110494814_110494824delAGGGGTTTCTC	ENST00000324068.1	-	6	1013_1023	c.846_856delGAGAAACCCCT	c.(844-858)cttgfs	p.LRNPL282fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.LRNPL27fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	282	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGTCTTCCCAAGGGGTTTCTCAGGCGAACCA	0.488													51	246	---	---	---	---