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
TROAP	10024	broad.mit.edu	37	12	49721057	49721057	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49721057C>G	ENST00000551245.1	+	8	946	c.835C>G	c.(835-837)Ctt>Gtt	p.L279V	TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Missense_Mutation_p.L279V			Q12815	TROAP_HUMAN	trophinin associated protein	279					cell adhesion	cytoplasm		p.L279V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTGGCCTCTCTTGGTCTGGC	0.512000													21	146					0	0	0.016522	0	0
GPR128	84873	broad.mit.edu	37	3	100354655	100354655	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:100354655A>G	ENST00000273352.3	+	5	850	c.582A>G	c.(580-582)agA>agG	p.R194R	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	194					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R194R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACACTTCCAGAAATGCTTCAC	0.373000													34	56					0	0	0.013114	0	0
GSK3A	2931	broad.mit.edu	37	19	42744116	42744116	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:42744116C>G	ENST00000398249.4	-	1	1929	c.216G>C	c.(214-216)aaG>aaC	p.K72N	GSK3A_ENST00000222330.3_Missense_Mutation_p.K154N|AC006486.9_ENST00000594664.1_Missense_Mutation_p.K67N			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	154	Gly-rich.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	p.K154N(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCTTGAACCTCTTGTCCTGGA	0.567000													5	33					0	0	0.014758	0	0
ZNF607	84775	broad.mit.edu	37	19	38190458	38190458	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:38190458G>T	ENST00000355202.4	-	5	1169	c.574C>A	c.(574-576)Cat>Aat	p.H192N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H191N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H192N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTCTCAACATGAACTTTCCCA	0.393000													51	646					4.10826e-27	4.37363e-27	0.014410	1	0
CUTA	51596	broad.mit.edu	37	6	33385311	33385311	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33385311G>A	ENST00000374500.5	-	2	392	c.261C>T	c.(259-261)gtC>gtT	p.V87V	CUTA_ENST00000494751.1_Silent_p.V45V|CUTA_ENST00000488034.1_Silent_p.V68V|CUTA_ENST00000488478.1_Silent_p.V68V|CUTA_ENST00000374496.3_Silent_p.V45V|CUTA_ENST00000607266.1_Silent_p.V45V|CUTA_ENST00000440279.3_Silent_p.V45V	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	68					protein localization|response to metal ion	membrane	enzyme binding	p.V45V(1)	SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCTGCAGAGACCGAGCCCG	0.612000													34	86					0	0	0.019004	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918212	156918212	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156918212C>T	ENST00000368194.3	-	23	3043	c.2004G>A	c.(2002-2004)gaG>gaA	p.E668E	ARHGEF11_ENST00000315174.8_Silent_p.E44E|ARHGEF11_ENST00000361409.2_Silent_p.E628E	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	628					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.E668E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGCACGTTCTCTGCCTTTC	0.602000													16	75					0	0	0.006122	0	0
GCC2	9648	broad.mit.edu	37	2	109111783	109111783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:109111783G>C	ENST00000309863.6	+	20	5198	c.4484G>C	c.(4483-4485)cGa>cCa	p.R1495P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1495					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.R1495P(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAACCTTCGAGAAAGGAGA	0.433000													15	50					0	0	0.024245	0	0
DHX9	1660	broad.mit.edu	37	1	182822501	182822501	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:182822501G>A	ENST00000367549.3	+	5	535	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	142	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.G142E(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGGGACCGAGGAGCCAACTTG	0.448000													48	142					0	0	0.014410	0	0
RBM4	5936	broad.mit.edu	37	11	66410998	66410998	+	Silent	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:66410998C>A	ENST00000409406.1	+	2	1267	c.490C>A	c.(490-492)Cgg>Agg	p.R164R	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Silent_p.R164R|RBM4_ENST00000310092.7_Silent_p.R164R|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.R139R|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Silent_p.R164R|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Silent_p.R139R					RNA binding motif protein 4									p.R164W(1)|p.R164R(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGGCTGCTATCGGTGCGGGAA	0.567000													7	53					0.000274275	0.000278977	0.004482	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573268	140573268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140573268G>A	ENST00000239446.4	+	1	1327	c.1143G>A	c.(1141-1143)atG>atA	p.M381I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		381	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.M381I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAAAGATGGTTTGCTACA	0.418000													18	56					0	0	0.004990	0	0
SOGA3	387104	broad.mit.edu	37	6	127797109	127797109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:127797109C>T	ENST00000556132.1	-	6	2926	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	SOGA3_ENST00000525778.1_Missense_Mutation_p.D688N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D688N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D688N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D688N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	688						integral to membrane		p.D688N(1)									CGCGCGCTGTCGTGGCCGCCG	0.652000													22	37					0	0	0.021523	0	0
ANO6	196527	broad.mit.edu	37	12	45782045	45782045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:45782045G>A	ENST00000320560.8	+	11	1469	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	ANO6_ENST00000423947.3_Missense_Mutation_p.E444K|ANO6_ENST00000435642.1_Missense_Mutation_p.E423K|ANO6_ENST00000441606.2_Missense_Mutation_p.E405K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.E423K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	423					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.E423K(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACCAGAATACGAAGCACGATG	0.443000													55	128					0	0	0.014410	0	0
RIT1	6016	broad.mit.edu	37	1	155880497	155880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:155880497G>A	ENST00000368323.3	-	2	260	c.56C>T	c.(55-57)tCa>tTa	p.S19L	RIT1_ENST00000368322.3_Missense_Mutation_p.S36L|RIT1_ENST00000539040.1_Intron	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	19					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.S19L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GTACTCCCGTGAGAGCCCAGC	0.527000													43	138					0	0	0.014410	0	0
DOCK7	85440	broad.mit.edu	37	1	63024891	63024891	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:63024891C>T	ENST00000251157.5	-	20	2233	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	DOCK7_ENST00000340370.5_Splice_Site_p.D734N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	734	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.D734N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGATAAGGATCCTAAAACAAA	0.363000													7	34					0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	168105892	168105892	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:168105892A>G	ENST00000409195.1	+	9	8079	c.7990A>G	c.(7990-7992)Agg>Ggg	p.R2664G	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2664G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2442G|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2489					actin cytoskeleton organization	cell junction	actin binding	p.R2664G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAAAGCTCAAGGGACATTAT	0.408000													26	58					0	0	0.018920	0	0
BZW2	28969	broad.mit.edu	37	7	16714045	16714045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:16714045G>C	ENST00000433922.2	+	3	245	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.E23Q|BZW2_ENST00000452975.2_Missense_Mutation_p.E23Q	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	23					cell differentiation|nervous system development|RNA metabolic process		protein binding	p.E23Q(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGATGAAAAAGAGAAATTCGA	0.328000													18	122					0	0	0.007413	0	0
YLPM1	56252	broad.mit.edu	37	14	75231008	75231008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:75231008G>A	ENST00000325680.7	+	1	940	c.816G>A	c.(814-816)aaG>aaA	p.K272K	YLPM1_ENST00000238571.3_Silent_p.K272K|YLPM1_ENST00000552421.1_Silent_p.K272K	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.K272K(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAAAAACAAGAGTACTGAAC	0.532000													5	11					0	0	0.021553	0	0
RIMS4	140730	broad.mit.edu	37	20	43399923	43399923	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43399923C>G	ENST00000372851.3	-	2	295	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.E78Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	77					exocytosis|neurotransmitter transport	cell junction|synapse		p.E77Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TACTTGCCCTCTGAGCCATAG	0.637000													15	67					0	0	0.024245	0	0
DHX57	90957	broad.mit.edu	37	2	39042771	39042771	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:39042771G>A	ENST00000295373.6	-	20	3624	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1166							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.F1166F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACAGTTCCGTGAATTGTCGTT	0.443000													46	116					0	0	0.014410	0	0
MYO9B	4650	broad.mit.edu	37	19	17213295	17213295	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17213295C>G	ENST00000595618.1	+	2	920	c.768C>G	c.(766-768)ctC>ctG	p.L256L	MYO9B_ENST00000594824.1_Silent_p.L256L|MYO9B_ENST00000397274.2_Silent_p.L256L|MYO9B_ENST00000593411.1_3'UTR	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	256	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.L256L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCCACTGCCTCACCGCCCTCA	0.642000													8	20					0	0	0.004482	0	0
CCDC77	84318	broad.mit.edu	37	12	538021	538021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:538021C>T	ENST00000239830.4	+	6	679	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CCDC77_ENST00000540180.1_Missense_Mutation_p.P135L|CCDC77_ENST00000422000.1_Missense_Mutation_p.P135L|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.P135L	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	167						centrosome		p.P167L(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGTAAGGAGCCTCCTCACAAA	0.443000													70	167					0	0	0.014410	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1876813	1876813	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:1876813G>A	ENST00000518288.1	+	25	3153	c.2990G>A	c.(2989-2991)gGa>gAa	p.G997E	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G935E|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G973E|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G998E|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G969E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	998					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.G998E(1)|p.G750E(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACGGAGGAGGGAAGGTAGGGC	0.617000													5	37					0	0	0.001984	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868615	22868615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:22868615C>T	ENST00000302097.3	-	2	1592	c.1340G>A	c.(1339-1341)aGa>aAa	p.R447K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACCCTCCTTCTGCTGTGCCT	0.413000													33	143					0	0	0.013726	0	0
KMT2A	4297	broad.mit.edu	37	11	118344511	118344511	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:118344511G>A	ENST00000534358.1	+	3	2660	c.2637G>A	c.(2635-2637)gaG>gaA	p.E879E	KMT2A_ENST00000354520.4_Silent_p.E879E|KMT2A_ENST00000389506.5_Silent_p.E879E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.E879E(2)									gagaccgggagagagaaaagg	0.473000													23	54					0	0	0.016522	0	0
C2orf69	205327	broad.mit.edu	37	2	200790122	200790122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:200790122C>G	ENST00000319974.5	+	2	854	c.671C>G	c.(670-672)tCt>tGt	p.S224C	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	224						extracellular region		p.S224C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCCAGTCCTTCTCATACTACG	0.363000													43	71					0	0	0.007835	0	0
VSNL1	7447	broad.mit.edu	37	2	17773477	17773477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:17773477G>C	ENST00000406397.1	+	2	661	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	VSNL1_ENST00000295156.4_Missense_Mutation_p.E46Q|VSNL1_ENST00000404666.2_Missense_Mutation_p.E46Q			P62760	VISL1_HUMAN	visinin-like 1	46	EF-hand 1.						calcium ion binding	p.E46Q(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTAAATCTCGAGGAATTTCA	0.428000													30	209					0	0	0.012213	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27797748	27797748	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:27797748C>T	ENST00000396319.2	+	3	349	c.261C>T	c.(259-261)ttC>ttT	p.F87F	TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.F87F|TAX1BP1_ENST00000409980.1_Silent_p.F87F|TAX1BP1_ENST00000543117.1_Silent_p.F87F	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	87					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.F87F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TACTAGCATTCCAAGGTAAGG	0.388000													20	110					0	0	0.008871	0	0
DSPP	1834	broad.mit.edu	37	4	88535250	88535250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:88535250C>T	ENST00000399271.1	+	5	1556	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.S479L	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	479	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.S479L(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GATGCTAATTCAGAAAGTGAC	0.378000													23	72					0	0	0.016522	0	0
IL17RC	84818	broad.mit.edu	37	3	9974537	9974537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:9974537C>T	ENST00000295981.3	+	18	1948	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.S506L|IL17RC_ENST00000383812.4_Missense_Mutation_p.S491L|IL17RC_ENST00000455057.1_Missense_Mutation_p.S474L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	577						integral to membrane|plasma membrane	receptor activity	p.S577L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGTCCGCTCGGGGGGTGAG	0.692000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7					0	0	0.001984	0	0
PARPBP	55010	broad.mit.edu	37	12	102559617	102559617	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:102559617C>T	ENST00000327680.2	+	7	997	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PARPBP_ENST00000358383.5_Silent_p.F259F|PARPBP_ENST00000392911.2_Silent_p.F178F|PARPBP_ENST00000543784.1_Silent_p.F145F|PARPBP_ENST00000378128.3_Silent_p.F259F|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Silent_p.F336F	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	259					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.F178F(1)|p.F259F(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTATTAATTTCATTGACAAAT	0.303000													23	166					0	0	0.012319	0	0
IFT80	57560	broad.mit.edu	37	3	159995413	159995413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:159995413G>A	ENST00000326448.7	-	17	2314	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	IFT80_ENST00000496589.1_Nonsense_Mutation_p.R491*|IFT80_ENST00000483465.1_Nonsense_Mutation_p.R491*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.R799*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	628						cilium axoneme|microtubule basal body		p.R628*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCATATCTCGATTAGCAACT	0.343000													17	53					0	0	0.007413	0	0
UTS2	10911	broad.mit.edu	37	1	7907829	7907829	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:7907829G>C	ENST00000361696.5	-	4	403	c.372C>G	c.(370-372)gtC>gtG	p.V124V	UTS2_ENST00000054668.5_Silent_p.V139V|UTS2_ENST00000377516.2_Intron	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	124					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	p.V124V(1)|p.V139V(1)		kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		TTTCACTTCAGACACAGTATT	0.373000													47	266					0	0	0.014410	0	0
WDR96	80217	broad.mit.edu	37	10	105990389	105990389	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:105990389A>G	ENST00000357060.3	-	2	393	c.278T>C	c.(277-279)gTa>gCa	p.V93A	WDR96_ENST00000369719.1_Missense_Mutation_p.V23A|WDR96_ENST00000369720.1_Missense_Mutation_p.V23A|WDR96_ENST00000428666.1_Missense_Mutation_p.V93A|WDR96_ENST00000278064.2_Missense_Mutation_p.V23A	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	93								p.V93A(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCTGTATACGTAGATGAG	0.428000													51	103					0	0	0.014410	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004393	73004393	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:73004393A>T	ENST00000389617.4	+	4	906	c.745A>T	c.(745-747)Att>Ttt	p.I249F		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	249					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.I249F(1)|p.K248>?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AATCCCCAAGATTGGCTGGTA	0.478000													8	28					0	0	0.006214	0	0
HK1	3098	broad.mit.edu	37	10	71144211	71144211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:71144211G>A	ENST00000448642.2	+	16	2187	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.E553K|HK1_ENST00000359426.6_Missense_Mutation_p.E565K|HK1_ENST00000298649.3_Missense_Mutation_p.E564K|HK1_ENST00000404387.2_Missense_Mutation_p.E569K			P19367	HXK1_HUMAN	hexokinase 1	565	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.E569K(1)|p.E564K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CATTCCTATTGAAATCATGCA	0.498000													34	91					0	0	0.013726	0	0
MED27	9442	broad.mit.edu	37	9	134952861	134952861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:134952861G>C	ENST00000292035.5	-	2	379	c.316C>G	c.(316-318)Caa>Gaa	p.Q106E	MED27_ENST00000357028.2_Missense_Mutation_p.Q106E|RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000474263.1_Missense_Mutation_p.Q106E	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	106					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	p.Q106E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TGAAGGAGTTGACTATAGAGA	0.418000													43	213					0	0	0.014410	0	0
HAUS3	79441	broad.mit.edu	37	4	2238119	2238119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:2238119C>G	ENST00000243706.4	-	4	1643	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E472Q|HAUS3_ENST00000506763.1_Missense_Mutation_p.E472Q	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	472					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.E472Q(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCACTTCCTCAAGGTTTCCA	0.323000													16	121					0	0	0.028581	0	0
FRRS1	391059	broad.mit.edu	37	1	100212977	100212977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:100212977G>A	ENST00000414213.1	-	4	807	c.206C>T	c.(205-207)tCa>tTa	p.S69L	FRRS1_ENST00000287474.5_Missense_Mutation_p.S69L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	69	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	p.S69L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGGATGCCCTGACAAAGTAAC	0.378000													29	115					0	0	0.008361	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529640	80529640	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:80529640G>A	ENST00000295057.3	-	2	1961	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L435L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	435						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.L435L(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGAGAAGATGAGGGCCATGG	0.622000										HNSCC(69;0.2)			20	45					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179399128	179399128	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179399128A>G	ENST00000589042.1	-	358	102438	c.102214T>C	c.(102214-102216)Tgg>Cgg	p.W34072R	TTN_ENST00000342992.6_Missense_Mutation_p.W31504R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25132R|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W25007R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25199R|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W32431R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32431	Ig-like 151.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W25007R(1)|p.W31504R(1)|p.W25132R(1)|p.W31502R(1)|p.W25199R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTCAACCATGGGTGCTGG	0.428000													36	73					0	0	0.025465	0	0
ERI3	79033	broad.mit.edu	37	1	44785309	44785309	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:44785309G>C	ENST00000372257.2	-	4	778	c.597C>G	c.(595-597)ttC>ttG	p.F199L	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000372259.5_Missense_Mutation_p.F84L|ERI3_ENST00000537474.1_Missense_Mutation_p.F22L	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	199	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.F199L(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCTGTACAGAATGGGGTAA	0.512000													25	169					0	0	0.006320	0	0
BCL6B	255877	broad.mit.edu	37	17	6930283	6930283	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:6930283G>C	ENST00000293805.5	+	8	1292	c.1200G>C	c.(1198-1200)cgG>cgC	p.R400R		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	400						nucleus	zinc ion binding	p.R400R(1)		skin(1)	1						CACATCTGCGGGCGCACGTGC	0.632000													11	56					0	0	0.008291	0	0
OBSCN	84033	broad.mit.edu	37	1	228434453	228434453	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:228434453T>A	ENST00000570156.2	+	14	4332	c.4258T>A	c.(4258-4260)Tac>Aac	p.Y1420N	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.Y1328N|OBSCN_ENST00000284548.11_Missense_Mutation_p.Y1328N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	402	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.Y1328N(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGGGGAGTACACCTGTGA	0.597000													31	68					0	0	0.017118	0	0
TMEM40	55287	broad.mit.edu	37	3	12783971	12783971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:12783971C>T	ENST00000314124.7	-	5	693	c.337G>A	c.(337-339)Gag>Aag	p.E113K	TMEM40_ENST00000431022.2_Missense_Mutation_p.E129K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E113K|TMEM40_ENST00000435218.2_Missense_Mutation_p.E83K|TMEM40_ENST00000435575.1_Missense_Mutation_p.E37K	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	113						integral to membrane		p.E113K(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGTTGAAGCTCATCCTTCAAA	0.507000													26	196					0	0	0.007291	0	0
CNN3	1266	broad.mit.edu	37	1	95363318	95363318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:95363318C>T	ENST00000370206.4	-	7	1353	c.970G>A	c.(970-972)Gac>Aac	p.D324N	CNN3_ENST00000538964.1_Missense_Mutation_p.D324N|CNN3_ENST00000394202.4_Missense_Mutation_p.D278N|CNN3_ENST00000545882.1_Missense_Mutation_p.D283N	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	324	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	p.D324N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATGCCTTGGTCGCTATATTGG	0.398000													39	175					0	0	0.027894	0	0
ZNF384	171017	broad.mit.edu	37	12	6777233	6777233	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6777233G>T	ENST00000396795.1	-	9	1695	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K	ZNF384_ENST00000361959.3_Missense_Mutation_p.Q461K|ZNF384_ENST00000396799.2_Missense_Mutation_p.Q400K|ZNF384_ENST00000319770.3_Missense_Mutation_p.Q384K|ZNF384_ENST00000355772.4_Missense_Mutation_p.Q345K|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396801.3_Missense_Mutation_p.Q461K			Q8TF68	ZN384_HUMAN	zinc finger protein 384	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q461K(1)|p.Q400K(1)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						acctgttgctgAAGATCAGGC	0.552000			T	"""EWSR1, TAF15 """	ALL								10	49					9.31168e-06	9.50389e-06	0.016723	1	0
PDE4C	5143	broad.mit.edu	37	19	18321950	18321950	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:18321950G>C	ENST00000355502.3	-	19	2799	c.1928C>G	c.(1927-1929)tCa>tGa	p.S643*	PDE4C_ENST00000447275.3_Nonsense_Mutation_p.S537*|PDE4C_ENST00000594465.3_Nonsense_Mutation_p.S643*|PDE4C_ENST00000597297.1_Nonsense_Mutation_p.S413*|PDE4C_ENST00000539010.1_Nonsense_Mutation_p.S412*|PDE4C_ENST00000594617.3_Nonsense_Mutation_p.S643*|PDE4C_ENST00000262805.12_Nonsense_Mutation_p.S611*|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Nonsense_Mutation_p.S358*			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	643					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.S643*(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGTGAGGTCTGAGGGACTTCG	0.597000													12	127					0	0	0.016723	0	0
CTC-435M10.3	0	broad.mit.edu	37	19	41884361	41884361	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:41884361C>T	ENST00000540732.1	+	2	274	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TMEM91_ENST00000544232.1_Silent_p.F49F|TMEM91_ENST00000447302.2_Silent_p.F49F|TMEM91_ENST00000436170.2_Silent_p.F49F|TMEM91_ENST00000413014.2_Silent_p.F49F|TMEM91_ENST00000539627.1_Silent_p.F49F|TMEM91_ENST00000392002.2_Silent_p.F49F|TMEM91_ENST00000604123.1_Silent_p.F106F|BCKDHA_ENST00000595085.1_Silent_p.F49F|TMEM91_ENST00000542945.1_Silent_p.F49F|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000356385.4_Silent_p.F49F														p.F49F(2)									GTTTGCAGTTCCTGTCACCGC	0.617000													19	41					0	0	0.008871	0	0
ICT1	3396	broad.mit.edu	37	17	73017052	73017052	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:73017052G>A	ENST00000301585.5	+	6	586	c.573G>A	c.(571-573)aaG>aaA	p.K191K		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	191					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	p.K191K(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					TGAGACAAAAGAGAATTCATT	0.498000													30	64					0	0	0.008361	0	0
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:90604653A>G	ENST00000369352.1	+	1	466	c.466A>G	c.(466-468)Act>Gct	p.T156A		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	156					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T156A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438000													59	83					0	0	0.014410	0	0
TRIM44	54765	broad.mit.edu	37	11	35684687	35684687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:35684687G>A	ENST00000299413.5	+	1	335	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	10						intracellular	protein binding|zinc ion binding	p.E10K(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CGCGGCCTTCGAGGAACTGCC	0.716000													6	19					0	0	0.003080	0	0
CLUH	23277	broad.mit.edu	37	17	2597243	2597243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:2597243C>T	ENST00000570628.2	-	19	3170	c.3065G>A	c.(3064-3066)tGc>tAc	p.C1022Y	CLUH_ENST00000538975.1_Missense_Mutation_p.C1022Y|CLUH_ENST00000435359.1_Missense_Mutation_p.C1022Y					clustered mitochondria (cluA/CLU1) homolog									p.C1023Y(2)									GAGGCGCAGGCAGGCGCAGGT	0.627000													6	10					0	0	0.001984	0	0
GNA15	2769	broad.mit.edu	37	19	3157790	3157790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3157790C>T	ENST00000262958.3	+	6	1067	c.809C>T	c.(808-810)aCa>aTa	p.T270I		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	270					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.T270I(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TTCAAAAGCACATCCGTCATC	0.507000													36	213					0	0	0.019004	0	0
TPX2	22974	broad.mit.edu	37	20	30385318	30385318	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:30385318G>A	ENST00000340513.4	+	17	2581	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	TPX2_ENST00000300403.6_Splice_Site_p.E649K			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	649					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.E649K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCAGTTGCTGGTAGTATTAT	0.463000													32	121					0	0	0.010818	0	0
ARHGAP6	395	broad.mit.edu	37	X	11272742	11272742	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:11272742G>A	ENST00000337414.4	-	2	1546	c.674C>T	c.(673-675)gCc>gTc	p.A225V	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A50V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A225V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A34V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A257V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A22V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A22V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	225					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.A225V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCAGCCGGGCCCTCTCCAG	0.547000													27	29					0	0	0.027356	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958857	129958857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:129958857G>A	ENST00000259351.5	+	13	1409	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	381					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.R381Q(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGCAGCCCCCGAAGGGGCCTG	0.577000													61	47					0	0	0.014410	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164398	150164398	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:150164398C>T	ENST00000307271.3	+	2	1186	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	204						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.F204F(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGTGAACTTCAAAACTGAAG	0.408000													20	97					0	0	0.008871	0	0
MEP1A	4224	broad.mit.edu	37	6	46794205	46794205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:46794205G>A	ENST00000230588.4	+	9	902	c.893G>A	c.(892-894)gGa>gAa	p.G298E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	298	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G298E(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTCAGGCTGGAGAAGTGGAT	0.488000													48	81					0	0	0.014410	0	0
ZNF514	84874	broad.mit.edu	37	2	95815496	95815496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:95815496G>A	ENST00000295208.2	-	5	1196	c.734C>T	c.(733-735)tCa>tTa	p.S245L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S245L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S245L(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AATAAGGGATGAAATATGACC	0.458000													78	172					0	0	0.014410	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284754	101284754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:101284754C>G	ENST00000309922.6	+	2	1283	c.1129C>G	c.(1129-1131)Ccc>Gcc	p.P377A		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)									p.P377A(1)									GCAATTCGTTCCCAAGAGAAA	0.343000													51	82					0	0	0.014410	0	0
NUP210L	91181	broad.mit.edu	37	1	154000004	154000004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:154000004G>A	ENST00000368559.3	-	29	3996	c.3925C>T	c.(3925-3927)Cag>Tag	p.Q1309*	NUP210L_ENST00000368553.1_Nonsense_Mutation_p.Q242*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.Q1309*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1309						integral to membrane		p.Q1309*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTTTGAGCTGAGAATTTATA	0.368000													36	101					0	0	0.019004	0	0
SIM1	6492	broad.mit.edu	37	6	100841697	100841697	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:100841697G>A	ENST00000369208.3	-	11	2018	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	SIM1_ENST00000262901.4_Silent_p.T412T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	412	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T412T(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGCCGTGTCGGTCAAGGGAC	0.572000													21	22					0	0	0.014323	0	0
GGT6	124975	broad.mit.edu	37	17	4462916	4462916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:4462916G>A	ENST00000301395.3	-	2	339	c.280C>T	c.(280-282)Cca>Tca	p.P94S	GGT6_ENST00000574154.1_Missense_Mutation_p.P94S|GGT6_ENST00000381550.3_Missense_Mutation_p.P94S|GGT6_ENST00000573591.1_5'UTR	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	94					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.P94S(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCGCCGGGTGGAGGGGCCACA	0.677000													11	16					0	0	0.008291	0	0
ABCA6	23460	broad.mit.edu	37	17	67075194	67075194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:67075194C>G	ENST00000284425.2	-	39	4948	c.4774G>C	c.(4774-4776)Gaa>Caa	p.E1592Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1592					transport	integral to membrane	ATP binding|ATPase activity	p.E1592Q(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTCCTGTTCTTTAGAAAGC	0.348000													12	54					0	0	0.010729	0	0
TMCC3	57458	broad.mit.edu	37	12	94965382	94965382	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:94965382G>A	ENST00000261226.4	-	4	1394	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	TMCC3_ENST00000551457.1_Silent_p.F390F	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	421						integral to membrane		p.F421F(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGACAGTCATGAAGGCCAGGA	0.532000													29	75					0	0	0.008361	0	0
FOXN1	8456	broad.mit.edu	37	17	26856166	26856166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:26856166C>T	ENST00000226247.2	+	4	783	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	FOXN1_ENST00000579795.1_Nonsense_Mutation_p.Q252*	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	252					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.Q252*(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTCACACTATCAGTACCAGCG	0.567000													14	90					0	0	0.020292	0	0
CUL2	8453	broad.mit.edu	37	10	35317794	35317794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:35317794G>A	ENST00000374748.1	-	17	1874	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	CUL2_ENST00000537177.1_Nonsense_Mutation_p.Q540*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.Q521*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.Q521*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.Q521*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.Q464*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.Q521*			Q13617	CUL2_HUMAN	cullin 2	521					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.Q521*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GAAGGAGCCTGAGTAAGAGGC	0.308000													19	35					0	0	0.008871	0	0
CADPS	8618	broad.mit.edu	37	3	62423858	62423858	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:62423858T>C	ENST00000383710.4	-	28	4047	c.3698A>G	c.(3697-3699)tAc>tGc	p.Y1233C	CADPS_ENST00000283269.9_Missense_Mutation_p.Y1194C|CADPS_ENST00000357948.3_Missense_Mutation_p.Y1154C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1233	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.Y1194C(1)|p.Y1233C(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAAGTCACGTAGGCGTCGGC	0.443000													15	36					0	0	0.024245	0	0
RNF186	54546	broad.mit.edu	37	1	20141360	20141360	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:20141360A>T	ENST00000375121.2	-	1	411	c.235T>A	c.(235-237)Tcc>Acc	p.S79T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	79						integral to membrane	zinc ion binding	p.S79T(1)		kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGATGGACCAGGTGTTG	0.692000													38	26					0	0	0.007835	0	0
MYO5B	4645	broad.mit.edu	37	18	47428979	47428979	+	Silent	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:47428979C>A	ENST00000285039.7	-	21	3095	c.2796G>T	c.(2794-2796)cgG>cgT	p.R932R	MYO5B_ENST00000324581.6_Silent_p.R73R	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	932					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R932R(1)|p.R932>?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATCGATCTTCCGCTGCAGCT	0.592000													27	53					1.74197e-06	1.78612e-06	0.006320	1	0
GRIK3	2899	broad.mit.edu	37	1	37499707	37499707	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:37499707C>T	ENST00000373091.3	-	1	19	c.3G>A	c.(1-3)atG>atA	p.M1I	GRIK3_ENST00000373093.4_Start_Codon_SNP_p.M1I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	1					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.M1I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGGAGCGGTCATCGTTGGGC	0.771000													3	3					0	0	0.004672	0	0
LFNG	3955	broad.mit.edu	37	7	2565141	2565141	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:2565141C>T	ENST00000222725.5	+	4	695	c.675C>T	c.(673-675)gtC>gtT	p.V225V	LFNG_ENST00000338732.3_Silent_p.V96V|LFNG_ENST00000359574.3_Silent_p.V225V|LFNG_ENST00000402506.1_Silent_p.V154V|LFNG_ENST00000402045.1_Silent_p.V96V	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	225					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	p.V96V(1)|p.V225V(1)|p.V154V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		ACGTCTACGTCGGCAAGCCCA	0.677000													8	14					0	0	0.004482	0	0
CATSPERB	79820	broad.mit.edu	37	14	92139220	92139220	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:92139220G>T	ENST00000256343.3	-	13	1275	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	373					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.F373L(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCTTGTTATAGAAGAGGTAAA	0.353000													57	192					5.82218e-30	6.20568e-30	0.014410	1	0
PLXND1	23129	broad.mit.edu	37	3	129288723	129288723	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:129288723G>A	ENST00000393239.1	-	20	4006	c.3828C>T	c.(3826-3828)atC>atT	p.I1276I	PLXND1_ENST00000324093.4_Silent_p.I1276I			Q9Y4D7	PLXD1_HUMAN	plexin D1	1276					axon guidance	integral to membrane|intracellular|plasma membrane		p.I1276I(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCAGATGACGATGGACACGA	0.637000													7	48					0	0	0.003080	0	0
CATSPER3	347732	broad.mit.edu	37	5	134332199	134332199	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:134332199C>T	ENST00000282611.6	+	3	575	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	163					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.I163I(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGGGCATCCGGGTGAGTG	0.562000													17	66					0	0	0.010504	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417182	113417182	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:113417182G>T	ENST00000272542.3	+	8	1989	c.1450G>T	c.(1450-1452)Gtc>Ttc	p.V484F		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	484					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.V484F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGACATGAGTGTCAAGGCAGA	0.463000													89	221					1.56974e-57	1.68119e-57	0.014410	1	0
G3BP2	9908	broad.mit.edu	37	4	76579204	76579204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:76579204G>A	ENST00000359707.4	-	8	1573	c.788C>T	c.(787-789)tCt>tTt	p.S263F	G3BP2_ENST00000357854.3_Intron|G3BP2_ENST00000395719.3_Missense_Mutation_p.S263F	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	263					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	p.S263F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGGAATTCCAGAGGAAGAAAC	0.423000													10	21					0	0	0.008291	0	0
MIR548H4	100313884	broad.mit.edu	37	8	26906419	26906419	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:26906419G>A	ENST00000408689.1	-	0	61					NR_031680.1																						tgtcattaatgaaacgtaaag	0.338000													3	9					0	0	0.004672	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565117	58565117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:58565117G>A	ENST00000282326.1	+	6	1172	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	309					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E309K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCACTTCATCGAGCACCAGAA	0.627000													25	39					0	0	0.021523	0	0
MVB12B	89853	broad.mit.edu	37	9	129157918	129157918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:129157918C>T	ENST00000361171.3	+	6	685	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	MVB12B_ENST00000436593.3_Nonsense_Mutation_p.Q187*|MVB12B_ENST00000545391.1_Nonsense_Mutation_p.Q202*|MVB12B_ENST00000535766.1_Nonsense_Mutation_p.Q195*	NM_033446.2	NP_258257.1			multivesicular body subunit 12B									p.Q202*(1)									TGACTCATCTCAACCCACAAC	0.522000													26	143					0	0	0.024334	0	0
TICRR	90381	broad.mit.edu	37	15	90161397	90161397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:90161397G>C	ENST00000268138.7	+	17	3080	c.2975G>C	c.(2974-2976)gGt>gCt	p.G992A	TICRR_ENST00000560985.1_Missense_Mutation_p.G991A|KIF7_ENST00000558928.1_5'UTR					TOPBP1-interacting checkpoint and replication regulator									p.G992A(1)									TCTGATCCTGGTCCTGATATT	0.413000													157	269					0	0	0.014410	0	0
TDP1	55775	broad.mit.edu	37	14	90429474	90429474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:90429474G>A	ENST00000335725.4	+	3	266	c.16G>A	c.(16-18)Gat>Aat	p.D6N	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.D6N|TDP1_ENST00000555880.1_Missense_Mutation_p.D6N|TDP1_ENST00000393454.2_Missense_Mutation_p.D6N	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	6					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.D6N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCAGGAAGGCGATTATGGGAG	0.433000								Repair of DNA-protein crosslinks					19	69					0	0	0.010504	0	0
MACF1	23499	broad.mit.edu	37	1	39797480	39797480	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39797480G>C	ENST00000564288.1	+	37	5997	c.5220G>C	c.(5218-5220)ttG>ttC	p.L1740F	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L180F|MACF1_ENST00000372915.3_Missense_Mutation_p.L1745F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L1777F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1745					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L180F(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTGAGCTTGAAATCAGGCC	0.488000													10	165					0	0	0.006214	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423000													65	333					5.10652e-33	5.44941e-33	0.014410	1	0
CFAP221	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:120413990G>A	ENST00000602047.1	+	25	2721	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E823K			Q4G0U5	PCDP1_HUMAN		823						cilium	calmodulin binding	p.E537K(1)				Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473000													7	40					0	0	0.004482	0	0
RPL31	6160	broad.mit.edu	37	2	101622476	101622476	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622476G>A	ENST00000264258.3	+	4	890	c.289G>A	c.(289-291)Gat>Aat	p.D97N	RPL31_ENST00000409650.1_Missense_Mutation_p.D97N|RPL31_ENST00000409028.4_Missense_Mutation_p.D97N|RPL31_ENST00000409733.1_Missense_Mutation_p.D97N|RPL31_ENST00000409320.3_Missense_Mutation_p.D97N|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409038.1_Missense_Mutation_p.D97N	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.D97N(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						TGAGGATGAAGATTCACCAAA	0.368000													5	70					0	0	0.010729	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530861	84530861	+	RNA	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:84530861C>G	ENST00000527857.1	+	0	883					NR_026851.1																						AACCCCTTATCAAATATTTCC	0.483000													7	34					0	0	0.001984	0	0
KDM3B	51780	broad.mit.edu	37	5	137763715	137763715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:137763715G>C	ENST00000314358.5	+	20	4893	c.4693G>C	c.(4693-4695)Gat>Cat	p.D1565H	KDM3B_ENST00000542866.1_Missense_Mutation_p.D597H|KDM3B_ENST00000394866.1_Missense_Mutation_p.D1221H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1565	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.D1565H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGATGTGTCTGATGCTGTTAA	0.428000													67	277					0	0	0.014410	0	0
CLEC9A	283420	broad.mit.edu	37	12	10218209	10218209	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:10218209A>C	ENST00000355819.1	+	9	1317	c.704A>C	c.(703-705)tAt>tCt	p.Y235S		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	235					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.Y235S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TGTGAGAAGTATGCGTTGAGA	0.448000													31	145					0	0	0.013726	0	0
ADCY10	55811	broad.mit.edu	37	1	167852770	167852770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:167852770C>G	ENST00000367848.1	-	9	1146	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	ADCY10_ENST00000367851.4_Missense_Mutation_p.E309Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.E156Q			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	309					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.E309Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGGCCTATCTCTTCTGCTTTG	0.438000													54	207					0	0	0.014410	0	0
SLC27A2	11001	broad.mit.edu	37	15	50518226	50518226	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:50518226A>T	ENST00000267842.5	+	6	1441	c.1209A>T	c.(1207-1209)aaA>aaT	p.K403N	SLC27A2_ENST00000380902.4_Missense_Mutation_p.K350N|SLC27A2_ENST00000544960.1_Missense_Mutation_p.K168N	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	403					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.K403N(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTGGAGAAAGATGAACCTG	0.323000													41	104					0	0	0.007835	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574496	60574496	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:60574496T>C	ENST00000406854.1	+	2	694	c.140T>C	c.(139-141)cTt>cCt	p.L47P	PCNXL4_ENST00000391611.2_Missense_Mutation_p.L47P|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L47P|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)									p.L47P(1)									CAAATTATTCTTTTTCTAATG	0.413000													18	58					0	0	0.006122	0	0
UNC13D	201294	broad.mit.edu	37	17	73839336	73839336	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:73839336G>C	ENST00000207549.4	-	3	544	c.165C>G	c.(163-165)ctC>ctG	p.L55L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.L55L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	55					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.L55L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCCTCGTAGAGCAGGGCCC	0.642000									Familial Hemophagocytic Lymphohistiocytosis				5	22					0	0	0.021553	0	0
CSF1	1435	broad.mit.edu	37	1	110466437	110466437	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:110466437G>A	ENST00000329608.6	+	6	1585	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369802.3_Silent_p.P398P	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	398					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.P398P(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACCCCCCGGAGCCAGGCT	0.667000													9	44					0	0	0.010729	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833492	27833492	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:27833492G>A	ENST00000357320.2	+	1	459	c.360G>A	c.(358-360)aaG>aaA	p.K120K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	120					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.K120K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						TGCCCAAGAAGACCGAGAGTC	0.522000													19	88					0	0	0.014323	0	0
CR1	1378	broad.mit.edu	37	1	207785142	207785142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207785142C>T	ENST00000367049.4	+	38	6416	c.6416C>T	c.(6415-6417)gCg>gTg	p.A2139V	CR1_ENST00000367051.1_Missense_Mutation_p.A1689V|CR1_ENST00000367052.1_Missense_Mutation_p.A1689V|CR1_ENST00000400960.2_Missense_Mutation_p.A1689V|CR1_ENST00000367053.1_Missense_Mutation_p.A1689V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1689					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.A1694V(1)|p.A2139V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGAGGGGCTGCGTCTCTGCAC	0.562000													5	212					0	0	0.014758	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87446150	87446150	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:87446150G>C	ENST00000268616.4	-	12	1983	c.1766C>G	c.(1765-1767)tCc>tGc	p.S589C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	589					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.S589C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGACCAAAGGAGACTGTGGG	0.657000													8	46					0	0	0.003080	0	0
AP3B1	8546	broad.mit.edu	37	5	77406125	77406125	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:77406125G>C	ENST00000255194.6	-	20	2478	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*	AP3B1_ENST00000519295.1_Nonsense_Mutation_p.S719*	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	768	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	p.S768*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCGTCATTTGAAGAATCTGA	0.328000									Hermansky-Pudlak syndrome				8	38					0	0	0.003080	0	0
PLCD4	84812	broad.mit.edu	37	2	219498429	219498429	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:219498429C>T	ENST00000450993.2	+	11	1890	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Silent_p.F549F|PLCD4_ENST00000417849.1_Silent_p.F517F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	517	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.F517F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACTACCACTTCTACGAGATAT	0.502000													19	59					0	0	0.006122	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791859	8791859	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:8791859G>A	ENST00000447110.1	-	10	1369	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	PIK3R5_ENST00000584803.1_Silent_p.R415R|PIK3R5_ENST00000581552.1_Silent_p.R415R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	415					platelet activation	cytosol|membrane|nucleus		p.R415R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCCCAGGCCTGCGGTGGCCTC	0.632000													10	9					0	0	0.008291	0	0
PTPN21	11099	broad.mit.edu	37	14	88946469	88946469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:88946469G>A	ENST00000556564.1	-	13	1590	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	PTPN21_ENST00000328736.3_Missense_Mutation_p.R436W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	436						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.R436W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCTGTGCCGATGGGACGGG	0.607000													9	30					0	0	0.006214	0	0
CLN8	2055	broad.mit.edu	37	8	1728467	1728467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:1728467C>T	ENST00000331222.4	+	3	842	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	199	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.H199Y(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCTGATGATTCACATGTTTCA	0.517000													11	72					0	0	0.013537	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103068411C>T	ENST00000264260.2	+	12	2159	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P382S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	524	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.P524S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418000													81	174					0	0	0.014410	0	0
ZNF700	90592	broad.mit.edu	37	19	12060204	12060204	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:12060204C>T	ENST00000482090.1	+	3	1729	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F455F|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F455F(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGAAAGCCTTCAGATCTACCT	0.488000													23	94					0	0	0.012319	0	0
RBM15	64783	broad.mit.edu	37	1	110884629	110884629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:110884629G>A	ENST00000369784.3	+	1	3502	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	RBM15_ENST00000487146.2_Missense_Mutation_p.D868N|RBM15_ENST00000602849.1_Missense_Mutation_p.D868N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	868	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.D868N(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGAAGTTCTGACAGCCGGTC	0.512000			T	MKL1	acute megakaryocytic leukemia								13	67					0	0	0.020292	0	0
SYNJ2	8871	broad.mit.edu	37	6	158499228	158499228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:158499228G>C	ENST00000355585.4	+	18	2557	c.2482G>C	c.(2482-2484)Gat>Cat	p.D828H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.D828H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D828H|SYNJ2_ENST00000367112.1_5'UTR	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	828							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.D828H(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGTGATCTAGATGTTGACAC	0.493000													21	103					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9077704	9077704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:9077704G>A	ENST00000397910.4	-	3	9945	c.9742C>T	c.(9742-9744)Cag>Tag	p.Q3248*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3249	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q3248*(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						GCTGTGGACTGAAGGGTGACT	0.517000													23	166					0	0	0.018920	0	0
FAM221A	340277	broad.mit.edu	37	7	23731113	23731113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:23731113G>A	ENST00000344962.4	+	4	624	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	FAM221A_ENST00000409994.3_Missense_Mutation_p.E121K|FAM221A_ENST00000409653.1_Missense_Mutation_p.E121K|FAM221A_ENST00000409192.3_Missense_Mutation_p.E179K	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	179								p.E179K(1)									ATTGGCTCAGGAAAAACCAGT	0.493000													57	137					0	0	0.014410	0	0
LRFN2	57497	broad.mit.edu	37	6	40400146	40400146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:40400146G>A	ENST00000338305.6	-	2	1249	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	236						cell junction|integral to membrane|postsynaptic membrane		p.S236F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAACTAAAGGACAAGGGTGG	0.597000													9	35					0	0	0.028581	0	0
FAM114A2	10827	broad.mit.edu	37	5	153407773	153407773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:153407773G>A	ENST00000351797.4	-	6	642	c.566C>T	c.(565-567)gCa>gTa	p.A189V	FAM114A2_ENST00000520313.1_Missense_Mutation_p.A119V|FAM114A2_ENST00000522858.1_Missense_Mutation_p.A189V|FAM114A2_ENST00000520667.1_Missense_Mutation_p.A189V	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	189							purine nucleotide binding	p.A189V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ATCCCCTTCTGCTATCACATC	0.393000													36	88					0	0	0.021022	0	0
MACF1	23499	broad.mit.edu	37	1	39799895	39799895	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39799895G>T	ENST00000564288.1	+	37	8412	c.7635G>T	c.(7633-7635)caG>caT	p.Q2545H	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q985H|MACF1_ENST00000372915.3_Missense_Mutation_p.Q2550H|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2582H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2550					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q985H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATCCATCAGATTTTTAATC	0.378000													26	248					7.38237e-10	7.66664e-10	0.006320	1	0
DGKA	1606	broad.mit.edu	37	12	56334172	56334172	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56334172C>T	ENST00000331886.5	+	11	1327	c.873C>T	c.(871-873)atC>atT	p.I291I	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.I291I|DGKA_ENST00000394147.1_Silent_p.I291I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	291					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.I291I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGATCCGGATCTACCACAGTC	0.582000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	84					0	0	0.023175	0	0
DAZAP2	9802	broad.mit.edu	37	12	51634204	51634204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:51634204C>G	ENST00000412716.3	+	2	707	c.91C>G	c.(91-93)Cag>Gag	p.Q31E	DAZAP2_ENST00000604900.1_Missense_Mutation_p.Q31E|DAZAP2_ENST00000549555.1_Missense_Mutation_p.Q31E|DAZAP2_ENST00000425012.2_Missense_Mutation_p.Q31E|DAZAP2_ENST00000449723.3_Missense_Mutation_p.Q31E|DAZAP2_ENST00000439799.2_Missense_Mutation_p.Q31E|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Missense_Mutation_p.Q31E			Q15038	DAZP2_HUMAN	DAZ associated protein 2	31	Pro-rich.						WW domain binding	p.Q31E(1)		haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GCATCTTCCTCAGGCTCCACC	0.488000													21	115					0	0	0.010504	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325188	77325188	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:77325188C>A	ENST00000282849.5	-	21	3795	c.3377G>T	c.(3376-3378)gGa>gTa	p.G1126V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1126	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1126V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAATACCATCCAGCTACCAT	0.502000													5	77					0.00198382	0.00200864	0.001984	1	0
TMTC4	84899	broad.mit.edu	37	13	101278119	101278119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:101278119C>G	ENST00000342624.5	-	14	1872	c.1614G>C	c.(1612-1614)atG>atC	p.M538I	TMTC4_ENST00000328767.5_Missense_Mutation_p.M408I|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.M519I	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	519						integral to membrane	binding	p.M538I(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAAGATTATTCATGGCATGAA	0.343000													16	56					0	0	0.006122	0	0
RPS18	6222	broad.mit.edu	37	6	33244172	33244172	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33244172C>T	ENST00000439602.2	+	6	498	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.R60C			P62269	RS18_HUMAN	ribosomal protein S18	130					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	p.R130C(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CTGCAGCCTTCGTGTCCGAGG	0.512000													4	27					0	0	0.009096	0	0
FRAS1	80144	broad.mit.edu	37	4	79199890	79199890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:79199890G>A	ENST00000264895.6	+	10	1503	c.1063G>A	c.(1063-1065)Gga>Aga	p.G355R	FRAS1_ENST00000325942.6_Missense_Mutation_p.G355R|FRAS1_ENST00000264899.6_Missense_Mutation_p.G355R	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	355	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.G355R(3)		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						TGAAGAAACTGGAGAATTTGT	0.328000													17	43					0	0	0.028581	0	0
APH1A	51107	broad.mit.edu	37	1	150238976	150238976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:150238976G>C	ENST00000360244.4	-	6	1182	c.690C>G	c.(688-690)atC>atG	p.I230M	APH1A_ENST00000414276.2_Missense_Mutation_p.I160M|APH1A_ENST00000369109.3_Missense_Mutation_p.I230M|APH1A_ENST00000461320.1_5'UTR	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	230					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	p.I230M(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCAGCTGTGATGAAGGCCC	0.567000													6	37					0	0	0.021553	0	0
ZNF594	84622	broad.mit.edu	37	17	5086687	5086687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:5086687G>A	ENST00000399604.4	-	1	1005	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	ZNF594_ENST00000575779.1_Missense_Mutation_p.H289Y			Q96JF6	ZN594_HUMAN	zinc finger protein 594	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H289Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCCAGTGTGAATTCTCTGA	0.433000													21	154					0	0	0.012319	0	0
PPP3CA	5530	broad.mit.edu	37	4	102117268	102117268	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:102117268G>T	ENST00000394854.3	-	2	747	c.64C>A	c.(64-66)Cca>Aca	p.P22T	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P22T|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P22T|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P22T|PPP3CA_ENST00000523694.2_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	22	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	p.P22T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGAGGAAATGGAACAGCTGAA	0.383000													13	47					0.00010058	0.000102539	0.013537	1	0
LRRC48	83450	broad.mit.edu	37	17	17891266	17891266	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:17891266G>A	ENST00000313838.8	+	6	677	c.298G>A	c.(298-300)Gag>Aag	p.E100K	LRRC48_ENST00000584166.1_Missense_Mutation_p.E100K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E100K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E100K|LRRC48_ENST00000399187.1_Missense_Mutation_p.E100K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	100						cytoplasm		p.E100K(2)		breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAACAACATTGAGACCATCGA	0.552000													9	43					0	0	0.006214	0	0
URB2	9816	broad.mit.edu	37	1	229772944	229772944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229772944G>A	ENST00000258243.2	+	4	2720	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	862						nucleolus		p.E862K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGCTGGACCCGAAGGTATAGA	0.498000													21	144					0	0	0.010504	0	0
BUD13	84811	broad.mit.edu	37	11	116640940	116640940	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:116640940T>C	ENST00000260210.4	-	2	167		c.e2-2		BUD13_ENST00000375445.3_Splice_Site	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)									p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCCGCATTCTAAATGAGAAT	0.368000													13	57					0	0	0.020292	0	0
NSUN7	79730	broad.mit.edu	37	4	40763266	40763266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:40763266G>C	ENST00000381782.2	+	4	931	c.436G>C	c.(436-438)Gat>Cat	p.D146H	NSUN7_ENST00000316607.5_Missense_Mutation_p.D146H	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7									p.D146H(2)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGTCCTTTCTGATAATGAAGA	0.323000													31	141					0	0	0.008361	0	0
MALAT1	378938	broad.mit.edu	37	11	65268182	65268182	+	RNA	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65268182G>C	ENST00000534336.1	+	0	2950					NR_002819.2																						GTGCGTAGAGGATCCTAGACC	0.532000													8	64					0	0	0.003080	0	0
NEU2	4759	broad.mit.edu	37	2	233899630	233899630	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:233899630G>A	ENST00000233840.3	+	2	1006	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	336							exo-alpha-sialidase activity	p.D336N(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGCCTACTCAGACCTCCAGAG	0.612000													114	84					0	0	0.014410	0	0
PDZD7	79955	broad.mit.edu	37	10	102777862	102777862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:102777862C>T	ENST00000370215.3	-	9	1741	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	506						cilium|nucleus	protein binding	p.E506K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TTACCTTTCTCTATGTCCAGG	0.587000													9	88					0	0	0.010729	0	0
SERINC3	10955	broad.mit.edu	37	20	43141486	43141486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43141486G>C	ENST00000342374.4	-	3	508	c.351C>G	c.(349-351)ttC>ttG	p.F117L	SERINC3_ENST00000255175.1_Missense_Mutation_p.F117L|SERINC3_ENST00000541235.1_Missense_Mutation_p.F62L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	117						integral to membrane|plasma membrane	protein binding	p.F117L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTTTTACTTTGAACATGAGCA	0.398000													17	108					0	0	0.028581	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859121	67859121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67859121G>A	ENST00000388833.3	+	7	975	c.598G>A	c.(598-600)Gac>Aac	p.D200N	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.D254N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.D185N|TSNAXIP1_ENST00000562321.1_3'UTR	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	200					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.D200N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCTCATCGCAGACCTGAATGA	0.542000													15	45					0	0	0.020292	0	0
SACS	26278	broad.mit.edu	37	13	23904867	23904867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23904867G>C	ENST00000382298.3	-	10	13736	c.13148C>G	c.(13147-13149)tCa>tGa	p.S4383*	SACS_ENST00000382292.3_Nonsense_Mutation_p.S4383*|SACS_ENST00000402364.1_Nonsense_Mutation_p.S3633*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4383	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.S4383*(1)|p.S4236*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCGGGATGCTGAGGTTGAAAA	0.378000													45	135					0	0	0.009718	0	0
HCN1	348980	broad.mit.edu	37	5	45462008	45462008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:45462008G>A	ENST00000303230.4	-	3	1008	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	317						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F317F(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGTACTAAGAACTGAAGAC	0.423000													16	64					0	0	0.028581	0	0
ATP2B1	490	broad.mit.edu	37	12	90005096	90005096	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:90005096G>C	ENST00000428670.3	-	13	2577	c.2121C>G	c.(2119-2121)gtC>gtG	p.V707V	ATP2B1_ENST00000261173.2_Silent_p.V707V|ATP2B1_ENST00000348959.3_Silent_p.V707V|ATP2B1_ENST00000393164.2_Silent_p.V450V|ATP2B1_ENST00000359142.3_Silent_p.V707V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	707					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.V707V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATCACCAGTGACCATCCGCA	0.358000													67	410					0	0	0.014410	0	0
R3HDM1	23518	broad.mit.edu	37	2	136389328	136389328	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:136389328G>C	ENST00000264160.4	+	8	908	c.538G>C	c.(538-540)Gat>Cat	p.D180H	R3HDM1_ENST00000329971.3_Missense_Mutation_p.D136H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.D124H|R3HDM1_ENST00000409478.1_Missense_Mutation_p.D136H|R3HDM1_ENST00000409606.1_Missense_Mutation_p.D180H	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	180	R3H.						nucleic acid binding	p.D180H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGAAATTTTAGATTTCATTGG	0.323000													30	43					0	0	0.009535	0	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	39					0.000274275	0.000278977	0.004482	1	0
FOXS1	2307	broad.mit.edu	37	20	30433105	30433105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:30433105G>A	ENST00000375978.3	-	1	315	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	81					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R81C(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGGTCATCGCGGGGCACCTTG	0.637000													14	23					0	0	0.024245	0	0
PLCB1	23236	broad.mit.edu	37	20	8113380	8113380	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:8113380T>C	ENST00000378641.3	+	1	557	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	PLCB1_ENST00000378637.2_Missense_Mutation_p.F28L|PLCB1_ENST00000338037.6_Missense_Mutation_p.F28L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	28				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.F28L(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGGCACCAAATTCGTCAAGTG	0.682000													5	5					0	0	0.021553	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728335	20728335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:20728335C>G	ENST00000427401.4	-	4	768	c.674G>C	c.(673-675)gGa>gCa	p.G225A		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	225					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G224A(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCGTTTCTCTCCAGTATGAAT	0.403000													3	56					0	0	0.004672	0	0
NAA25	80018	broad.mit.edu	37	12	112477111	112477111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:112477111G>T	ENST00000261745.4	-	22	2819	c.2571C>A	c.(2569-2571)taC>taA	p.Y857*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	857						cytoplasm	protein binding	p.Y857*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CACTCTCACAGTAACTGGATA	0.328000													40	101					1.52319e-26	1.61964e-26	0.008740	1	0
KIAA0754	643314	broad.mit.edu	37	1	39876601	39876601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39876601C>T	ENST00000530275.1	+	1	451	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	86	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTAGATTTCAGCAGCACAG	0.433000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	144					0	0	0.010818	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797074	1797074	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:1797074C>T	ENST00000250894.4	+	6	946	c.789C>T	c.(787-789)gcC>gcT	p.A263A	MAPK8IP3_ENST00000356010.5_Silent_p.A263A|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	263					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.A264A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCTCGGCGGCCGCCACACCCA	0.667000													3	21					0	0	0.014758	0	0
DNTT	1791	broad.mit.edu	37	10	98078150	98078150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:98078150C>T	ENST00000419175.1	+	2	415	c.245C>T	c.(244-246)tCg>tTg	p.S82L	DNTT_ENST00000371174.2_Missense_Mutation_p.S82L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	82	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.S82L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACTCGGGTTCGGATGTTCTG	0.473000													42	251					0	0	0.010771	0	0
PPM1G	5496	broad.mit.edu	37	2	27609992	27609992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27609992C>T	ENST00000344034.4	-	2	418	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PPM1G_ENST00000350803.4_Missense_Mutation_p.E52K	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	52					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.E52K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGGCTGTCTCACTGTCCAGC	0.448000													31	56					0	0	0.023175	0	0
MKI67	4288	broad.mit.edu	37	10	129913744	129913744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:129913744C>T	ENST00000368654.3	-	7	1303	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	310					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E310K(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)				AGCTCTTGTTCAGGTGAAGCA	0.572000													22	110					0	0	0.014323	0	0
FCN1	2219	broad.mit.edu	37	9	137804336	137804336	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:137804336G>C	ENST00000371806.3	-	7	685	c.594C>G	c.(592-594)gcC>gcG	p.A198A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	198	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.A198A(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCTACCCTGGGCAGTCAGGG	0.642000													4	13					0	0	0.021553	0	0
MCM2	4171	broad.mit.edu	37	3	127327705	127327705	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:127327705G>A	ENST00000265056.7	+	8	1511	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	423					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.D423N(1)		ovary(3)|skin(2)|stomach(1)	6						CAACAACTATGATGGCTCCCT	0.567000													114	145					0	0	0.014410	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279160	51279160	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:51279160G>A	ENST00000551456.1	+	4	829	c.784G>A	c.(784-786)Gat>Aat	p.D262N	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.D262N			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	262	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.D262N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TGGAGCTTTTGATACTTGCAG	0.378000													92	223					0	0	0.014410	0	0
DIEXF	27042	broad.mit.edu	37	1	210010531	210010531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:210010531G>A	ENST00000491415.2	+	6	1094	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	346					multicellular organismal development	nucleus		p.R346K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GATGACTTCAGAGACCAAGGG	0.522000													4	36					0	0	0.009096	0	0
RBM4B	83759	broad.mit.edu	37	11	66444285	66444285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:66444285C>T	ENST00000525754.1	-	1	934	c.266G>A	c.(265-267)tGt>tAt	p.C89Y	RBM4B_ENST00000310046.4_Missense_Mutation_p.C89Y|RBM4B_ENST00000524637.1_Missense_Mutation_p.C89Y|RBM4B_ENST00000531969.1_Missense_Mutation_p.C89Y|RBM4B_ENST00000531036.2_Missense_Mutation_p.C89Y			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	89	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	p.C89Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TTGGTTGGTACAAGTGGGGCT	0.488000													124	295					0	0	0.014410	0	0
PPRC1	23082	broad.mit.edu	37	10	103900177	103900177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103900177G>A	ENST00000278070.2	+	5	1951	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PPRC1_ENST00000413464.2_Missense_Mutation_p.D638N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.D638N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTCCTGGCTGACTCAGCAGC	0.562000													18	69					0	0	0.006122	0	0
SCUBE1	80274	broad.mit.edu	37	22	43634897	43634897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:43634897C>T	ENST00000360835.4	-	7	917	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Missense_Mutation_p.R294Q	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.R264Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCAGCTGCATCGCACGCCAGT	0.607000													8	21					0	0	0.006214	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445991	87445991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:87445991G>C	ENST00000268616.4	-	12	2142	c.1925C>G	c.(1924-1926)tCg>tGg	p.S642W		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	642					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.S642W(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AACAGATGACGACAGCAGCAG	0.592000													29	109					0	0	0.027356	0	0
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:7684884C>T	ENST00000358368.4	-	17	2381	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	XAB2_ENST00000534844.1_Missense_Mutation_p.E779K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	p.E779K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCTCCGCCTCAGCCGCCAGC	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)					4	16					0	0	0.014758	0	0
ARAF	369	broad.mit.edu	37	X	47422403	47422403	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:47422403G>A	ENST00000377045.4	+	2	231	c.37G>A	c.(37-39)Gag>Aag	p.E13K	ARAF_ENST00000290277.6_Missense_Mutation_p.E13K|ARAF_ENST00000377039.2_Missense_Mutation_p.E13K	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	13					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.E13K(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CAATGGGGCCGAGCCATCCCG	0.627000											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	3					0	0	0.009096	0	0
CSNK2B	1460	broad.mit.edu	37	6	31635725	31635725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:31635725C>G	ENST00000375880.2	+	3	271	c.153C>G	c.(151-153)gaC>gaG	p.D51E	CSNK2B_ENST00000375866.2_Missense_Mutation_p.D51E|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D51E|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D51E|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D70E														p.D51E(1)									AAGCTCTAGACATGATCTTGG	0.463000													21	63					0	0	0.008871	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842905	72842905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72842905T>C	ENST00000293190.5	-	10	2302	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	GRIN2C_ENST00000347612.4_Missense_Mutation_p.K719R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	719					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	p.K719R(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCACCCCATCTTGAGGCTGGT	0.617000													12	26					0	0	0.016522	0	0
ADAM19	8728	broad.mit.edu	37	5	156932736	156932736	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:156932736A>G	ENST00000257527.4	-	11	1149	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	ADAM19_ENST00000517905.1_Silent_p.S357S|ADAM19_ENST00000430702.2_Silent_p.S90S|ADAM19_ENST00000394020.1_Silent_p.S359S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	357	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.S358S(1)|p.S357S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCAATCTGCAGAATCATGGG	0.602000													6	18					0	0	0.001984	0	0
RFK	55312	broad.mit.edu	37	9	79002362	79002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:79002362C>T	ENST00000376736.1	-	4	754	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	141					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	p.D148N(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	AAGAAATTGTCTTCTTTGATT	0.313000													70	108					0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23904719	23904719	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23904719G>C	ENST00000382298.3	-	10	13884	c.13296C>G	c.(13294-13296)ttC>ttG	p.F4432L	SACS_ENST00000382292.3_Missense_Mutation_p.F4432L|SACS_ENST00000402364.1_Missense_Mutation_p.F3682L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4432					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.F4285L(2)|p.F4432L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAGGAACAAAGAACCTTTGAG	0.478000													42	112					0	0	0.007835	0	0
SRCAP	10847	broad.mit.edu	37	16	30735080	30735080	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:30735080C>T	ENST00000262518.4	+	25	4720	c.4335C>T	c.(4333-4335)acC>acT	p.T1445T	SRCAP_ENST00000395059.2_Silent_p.T1383T|SRCAP_ENST00000344771.4_Silent_p.T1287T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1445	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.T1445T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGTCCCCACCACACTTCCTG	0.567000													32	118					0	0	0.009535	0	0
SIDT1	54847	broad.mit.edu	37	3	113321989	113321989	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:113321989C>T	ENST00000264852.4	+	12	1981	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R419W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	419						integral to membrane		p.R419W(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAACATCATCCGGACCAAGGT	0.507000													9	62					0	0	0.008291	0	0
PKIG	11142	broad.mit.edu	37	20	43243233	43243233	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43243233C>T	ENST00000372889.1	+	5	621	c.36C>T	c.(34-36)atC>atT	p.I12I	Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372882.3_Silent_p.I12I|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372891.3_Silent_p.I12I|PKIG_ENST00000372887.1_Silent_p.I12I|PKIG_ENST00000349959.3_Silent_p.I12I|PKIG_ENST00000372894.3_Silent_p.I12I|PKIG_ENST00000372886.1_Silent_p.I12I|PKIG_ENST00000372892.3_Silent_p.I12I	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	12							cAMP-dependent protein kinase inhibitor activity|protein binding	p.I12I(1)		breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGGACTTCATCTCCTGTGACC	0.617000													31	74					0	0	0.008361	0	0
EPHB1	2047	broad.mit.edu	37	3	134967280	134967280	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:134967280G>A	ENST00000398015.3	+	14	2989	c.2619G>A	c.(2617-2619)gaG>gaA	p.E873E	EPHB1_ENST00000493838.1_Silent_p.E434E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	873	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.E873E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGTTTGCGGAGATTGTCAACA	0.572000													17	35					0	0	0.004990	0	0
MOB4	25843	broad.mit.edu	37	2	198380840	198380840	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:198380840G>A	ENST00000323303.4	+	1	285	c.30G>A	c.(28-30)ctG>ctA	p.L10L	MOB4_ENST00000448447.2_Silent_p.L10L|MOB4_ENST00000409916.1_Intron|MOB4_ENST00000497443.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron|MOB4_ENST00000233892.4_Intron	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein									p.L10L(2)									CGGCAGTGCTGAGGCGGAACA	0.687000													4	6					0	0	0.009096	0	0
OR2G2	81470	broad.mit.edu	37	1	247752506	247752506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:247752506C>T	ENST00000320065.1	+	1	845	c.845C>T	c.(844-846)aCt>aTt	p.T282I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T282I(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCTTCTACACTGTGGTAACC	0.448000													125	201					0	0	0.014410	0	0
SLC26A4	5172	broad.mit.edu	37	7	107342406	107342406	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:107342406C>G	ENST00000265715.3	+	17	2162	c.1938C>G	c.(1936-1938)gtC>gtG	p.V646V	SLC26A4_ENST00000544569.1_Silent_p.V233V|SLC26A4_ENST00000543100.1_Silent_p.V215V|SLC26A4_ENST00000541474.1_Silent_p.V207V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	646	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.V646V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCTTCCAGTCAAAGTGAACG	0.453000									Pendred syndrome				14	76					0	0	0.016723	0	0
CDCP1	64866	broad.mit.edu	37	3	45152268	45152268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:45152268G>A	ENST00000296129.1	-	4	855	c.721C>T	c.(721-723)Cca>Tca	p.P241S	CDCP1_ENST00000425231.2_Missense_Mutation_p.P241S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	241						extracellular region|integral to membrane|plasma membrane		p.P241S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AAGCCTTCTGGGTAGTTGGCA	0.542000													94	169					0	0	0.014410	0	0
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:75609037G>A	ENST00000423381.1	-	6	519	c.396C>T	c.(394-396)atC>atT	p.I132I	CAMK2G_ENST00000372765.1_Silent_p.I132I|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I132I|CAMK2G_ENST00000322635.3_Silent_p.I132I|CAMK2G_ENST00000322680.3_Silent_p.I132I|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.I132I|CAMK2G_ENST00000351293.3_Silent_p.I132I	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	132	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	p.I132I(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCCTGTGGACGATGTCATGCT	0.522000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	23					0	0	0.003080	0	0
HPR	3250	broad.mit.edu	37	16	72108235	72108235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:72108235G>C	ENST00000540303.2	+	3	176	c.144G>C	c.(142-144)ttG>ttC	p.L48F	HPR_ENST00000228226.8_Missense_Mutation_p.L85F|HPR_ENST00000356967.5_Missense_Mutation_p.L48F|HPR_ENST00000561690.1_Missense_Mutation_p.L48F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	48	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.L48F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGGAGCACTTGTTTCGCTACC	0.493000													13	63					0	0	0.013537	0	0
PRPF8	10594	broad.mit.edu	37	17	1576731	1576731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1576731C>T	ENST00000572621.1	-	22	3842	c.3577G>A	c.(3577-3579)Gag>Aag	p.E1193K	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1193K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1193						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.E1193K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCGGCACTCGAAGCCACAC	0.577000													19	61					0	0	0.008871	0	0
ZFP37	7539	broad.mit.edu	37	9	115805331	115805331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:115805331C>G	ENST00000374227.3	-	4	1594	c.1567G>C	c.(1567-1569)Ggg>Cgg	p.G523R	ZFP37_ENST00000555206.1_Missense_Mutation_p.G524R|ZFP37_ENST00000553380.1_Missense_Mutation_p.G538R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	523						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G523R(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCCTTTCCCACATTGATTA	0.388000													39	77					0	0	0.023175	0	0
CHERP	10523	broad.mit.edu	37	19	16634026	16634026	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16634026C>G	ENST00000546361.2	-	11	1968	c.1817G>C	c.(1816-1818)gGa>gCa	p.G606A	CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.G617A|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	606	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.G606A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTGCTGGGGTCCAGCCCAAGG	0.662000													14	82					0	0	0.028581	0	0
ZNF460	10794	broad.mit.edu	37	19	57802811	57802811	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:57802811G>C	ENST00000360338.3	+	3	1224	c.902G>C	c.(901-903)aGc>aCc	p.S301T	ZNF460_ENST00000537645.1_Missense_Mutation_p.S260T	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S301T(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAAGAGCCACAATGAG	0.473000													22	141					0	0	0.014323	0	0
DOCK4	9732	broad.mit.edu	37	7	111634279	111634279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:111634279C>G	ENST00000428084.1	-	5	498	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.E76Q			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	76					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.E64Q(1)|p.E76Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATAACCATTTCAAATTGTCTG	0.308000													23	89					0	0	0.014323	0	0
ABCC12	94160	broad.mit.edu	37	16	48177901	48177901	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:48177901C>T	ENST00000311303.3	-	2	540	c.195G>A	c.(193-195)gtG>gtA	p.V65V	ABCC12_ENST00000448542.1_Silent_p.V65V|ABCC12_ENST00000416054.1_Silent_p.V65V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	65						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V65V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGTAGCCTTTCACCATCACCG	0.552000													12	163					0	0	0.010729	0	0
KPRP	448834	broad.mit.edu	37	1	152732377	152732377	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152732377T>C	ENST00000368773.1	+	2	371	c.313T>C	c.(313-315)Tcc>Ccc	p.S105P	KPRP_ENST00000606109.1_Missense_Mutation_p.S105P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	105	Gln-rich.					cytoplasm		p.S105P(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCAAACTTCCTCTGTTCA	0.537000													115	274					0	0	0.014410	0	0
MALAT1	378938	broad.mit.edu	37	11	65271213	65271213	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65271213G>A	ENST00000534336.1	+	0	5981					NR_002819.2																						CTTTGTCTGCGAACACTCTTT	0.373000													28	75					0	0	0.007291	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484612	45484612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:45484612C>G	ENST00000359600.5	-	14	3277	c.3072G>C	c.(3070-3072)atG>atC	p.M1024I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1024							zinc ion binding	p.M1024I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAAGATGGCTCATGGCCAATG	0.567000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	87					0	0	0.010729	0	0
SND1	27044	broad.mit.edu	37	7	127344995	127344995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:127344995G>C	ENST00000354725.3	+	8	1137	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	315	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.E315Q(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAGGGCGGCAGAGAGGTAAGG	0.532000													4	35					0	0	0.009096	0	0
ANKFY1	51479	broad.mit.edu	37	17	4086695	4086695	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:4086695G>A	ENST00000341657.4	-	14	1985	c.1950C>T	c.(1948-1950)gtC>gtT	p.V650V	ANKFY1_ENST00000570535.1_Silent_p.V692V|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.V650V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	650						endosome membrane	metal ion binding|protein binding	p.V650V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCTACCTGACATTTATAT	0.488000													22	89					0	0	0.018920	0	0
OSBP	5007	broad.mit.edu	37	11	59349008	59349008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:59349008G>A	ENST00000263847.1	-	10	2177	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	566					lipid transport	Golgi membrane	oxysterol binding	p.F566F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGTTGCATGGAAAATACAAT	0.413000													21	149					0	0	0.008871	0	0
REEP4	80346	broad.mit.edu	37	8	21997685	21997685	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:21997685C>T	ENST00000306306.3	-	3	650	c.182G>A	c.(181-183)tGg>tAg	p.W61*	REEP4_ENST00000523293.1_Splice_Site_p.W61*|REEP4_ENST00000334530.5_Splice_Site_p.W61*	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	61						integral to membrane		p.W61*(1)		kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GCGTCCATACCAGGAGATAAA	0.577000													4	15					0	0	0.014758	0	0
TRIM29	23650	broad.mit.edu	37	11	120008356	120008356	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:120008356G>C	ENST00000341846.5	-	1	805	c.384C>G	c.(382-384)cgC>cgG	p.R128R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	128					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R128R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAATGGACTTGCGCAGCTCGC	0.637000													40	215					0	0	0.008740	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265572	36265572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:36265572C>T	ENST00000296604.3	-	5	804	c.319G>A	c.(319-321)Gat>Aat	p.D107N	RANBP3L_ENST00000502994.1_Missense_Mutation_p.D132N|RANBP3L_ENST00000515759.1_Missense_Mutation_p.D107N	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	107					intracellular transport			p.D107N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTCTTTATATCAACACTACTT	0.308000													32	101					0	0	0.013726	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004392	73004392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:73004392G>C	ENST00000389617.4	+	4	905	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	248					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.K248>?(1)|p.K248N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AAATCCCCAAGATTGGCTGGT	0.478000													8	30					0	0	0.008291	0	0
IGFN1	91156	broad.mit.edu	37	1	201185733	201185733	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:201185733G>A	ENST00000335211.4	+	16	9577	c.9447G>A	c.(9445-9447)ctG>ctA	p.L3149L	IGFN1_ENST00000295591.8_Silent_p.L309L	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.L3149L(1)|p.L309L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCACTTGGCTGAAGGTGGGCG	0.662000													5	25					0	0	0.014758	0	0
MFSD12	126321	broad.mit.edu	37	19	3551099	3551099	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3551099T>C	ENST00000355415.2	-	2	561	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.Y131C|MFSD12_ENST00000398558.4_Missense_Mutation_p.Y131C|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	131					transmembrane transport	integral to membrane		p.Y131C(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GAACGGGCCGTAGTAGAGGAG	0.637000													5	22					0	0	0.021553	0	0
KLHL42	57542	broad.mit.edu	37	12	27933977	27933977	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:27933977C>T	ENST00000381271.2	+	1	1025	c.714C>T	c.(712-714)ccC>ccT	p.P238P	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42									p.P238P(1)									ACCTTCCTCCCGACCTGGTCA	0.622000													7	15					0	0	0.001984	0	0
KDM5B	10765	broad.mit.edu	37	1	202718108	202718108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:202718108C>T	ENST00000367265.3	-	14	3145	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D697N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	661					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.D661N(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCTTTCTCATCCTCAATCATA	0.388000													46	153					0	0	0.011902	0	0
SLC13A5	284111	broad.mit.edu	37	17	6610016	6610016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:6610016G>C	ENST00000433363.2	-	3	546	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V	SLC13A5_ENST00000381074.4_Missense_Mutation_p.L62V|SLC13A5_ENST00000293800.6_Missense_Mutation_p.L105V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.L105V	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	105						integral to membrane	citrate transmembrane transporter activity	p.L105V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CTCTTGTGCAGGTTCCAGCGC	0.627000													3	26					0	0	0.009096	0	0
ADCY7	113	broad.mit.edu	37	16	50339495	50339495	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50339495G>A	ENST00000394697.2	+	13	2017	c.1677G>A	c.(1675-1677)acG>acA	p.T559T	ADCY7_ENST00000254235.3_Silent_p.T559T|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000538642.1_Silent_p.T559T|ADCY7_ENST00000566433.2_Silent_p.T559T			P51828	ADCY7_HUMAN	adenylate cyclase 7	559					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.T559T(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCAGCTCCACGAGGTGAGGTC	0.612000													53	88					0	0	0.014410	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798494	57798494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:57798494G>A	ENST00000302622.3	+	1	93	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E24K(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCATCCATGAAGCACACCT	0.468000													111	305					0	0	0.014410	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213827	42213827	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:42213827G>T	ENST00000221992.6	+	2	407	c.293G>T	c.(292-294)cGa>cTa	p.R98L	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R98L|CEA_ENST00000598976.1_Missense_Mutation_p.R98L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R98L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	98	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.R98L(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACAGTGGTCGAGAGATAATA	0.448000													39	229					3.21399e-22	3.40125e-22	0.021022	1	0
XPO1	7514	broad.mit.edu	37	2	61710158	61710158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:61710158G>C	ENST00000401558.2	-	22	3473	c.2746C>G	c.(2746-2748)Caa>Gaa	p.Q916E	XPO1_ENST00000406957.1_Missense_Mutation_p.Q916E|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.Q916E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	916					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.Q916E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAATAAGTTTGATAAAAACTC	0.333000			Mis		CLL								39	97					0	0	0.023175	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97376261	97376261	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:97376261G>A	ENST00000371224.2	-	13	1715	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	ALDH18A1_ENST00000371221.3_Silent_p.I524I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	526	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	p.I526I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TGACTCCATGGATTGAGAGAG	0.547000													4	3					0	0	0.009096	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107900	42107900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:42107900G>A	ENST00000457542.2	+	12	1682	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D305N|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D466N|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D472N|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D349N	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	472								p.D466N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGACAAAGCTGATGCATCCCT	0.547000													7	26					0	0	0.001984	0	0
CSF1R	1436	broad.mit.edu	37	5	149449619	149449619	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:149449619C>T	ENST00000286301.3	-	10	1618	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	443	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.E443K(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACTTGGGCCTCATCACACCTG	0.617000													8	36					0	0	0.004482	0	0
ZNF644	84146	broad.mit.edu	37	1	91406420	91406420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:91406420G>A	ENST00000370440.1	-	3	708	c.491C>T	c.(490-492)tCt>tTt	p.S164F	ZNF644_ENST00000337393.5_Missense_Mutation_p.S164F|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S164F(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGGTGTAGACAGCTGAAG	0.403000													29	150					0	0	0.027356	0	0
LAS1L	81887	broad.mit.edu	37	X	64753613	64753613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:64753613G>A	ENST00000374811.3	-	2	279	c.239C>T	c.(238-240)tCa>tTa	p.S80L	LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.S80L|LAS1L_ENST00000374807.5_Missense_Mutation_p.S80L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	80						MLL1 complex|nucleolus	protein binding	p.S80L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCGTTGCCTGACCTAAAGGG	0.517000													23	17					0	0	0.009535	0	0
SLC27A5	10998	broad.mit.edu	37	19	59011983	59011983	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:59011983G>A	ENST00000263093.2	-	5	1382	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	SLC27A5_ENST00000601355.1_Missense_Mutation_p.P341S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	425					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.P425S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCCGAATAGGACCGAAGCGC	0.587000													35	48					0	0	0.019004	0	0
NCAPD2	9918	broad.mit.edu	37	12	6626188	6626188	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6626188G>C	ENST00000315579.5	+	10	1981	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q349H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	394	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.Q394H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TTGTCCAGCAGAAGGTAACCA	0.458000													31	154					0	0	0.009535	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947425	37947425	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:37947425C>T	ENST00000373087.6	+	4	923	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	269					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.F269F(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTACTCCTTCGTCAATGACA	0.612000													13	21					0	0	0.016723	0	0
FBXO38	81545	broad.mit.edu	37	5	147807414	147807414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:147807414G>A	ENST00000340253.5	+	15	2725	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	853						cytoplasm|nucleus		p.E853K(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGCCTGAGAGTTGTGA	0.582000													6	31					0	0	0.021553	0	0
DUSP6	1848	broad.mit.edu	37	12	89743278	89743278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:89743278G>A	ENST00000279488.7	-	3	2130	c.899C>T	c.(898-900)tCa>tTa	p.S300L	DUSP6_ENST00000547291.1_Missense_Mutation_p.S175L|DUSP6_ENST00000308385.6_Missense_Mutation_p.S154L|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	300	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S300L(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CACAGTGACTGAGCGGCTAAT	0.458000													35	99					0	0	0.017118	0	0
CCDC96	257236	broad.mit.edu	37	4	7044095	7044095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:7044095G>A	ENST00000310085.4	-	1	633	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	191	Glu-rich.							p.P191S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CTTTTGGCCGGGCGTccttcc	0.647000													8	33					0	0	0.003080	0	0
C1orf216	127703	broad.mit.edu	37	1	36181308	36181308	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:36181308G>A	ENST00000270815.4	-	2	1385	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	205								p.I205I(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGTTGTCTAGGATGGTGTCGA	0.607000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	108					0	0	0.018920	0	0
NAA15	80155	broad.mit.edu	37	4	140275244	140275244	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:140275244A>G	ENST00000296543.5	+	10	1402	c.1079A>G	c.(1078-1080)aAc>aGc	p.N360S	NAA15_ENST00000398947.1_Missense_Mutation_p.N360S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	360					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.N360S(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CGGTTATTTAACCCCAATGGT	0.318000													19	104					0	0	0.007413	0	0
NUP107	57122	broad.mit.edu	37	12	69126474	69126474	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:69126474G>T	ENST00000229179.4	+	23	2388	c.2056G>T	c.(2056-2058)Gca>Tca	p.A686S	NUP107_ENST00000378905.2_Missense_Mutation_p.A447S|NUP107_ENST00000401003.3_3'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.A657S	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	686					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.A686S(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCGCAGAGGGCAGAAGCACT	0.373000													22	43					4.26978e-12	4.45498e-12	0.018920	1	0
FHL5	9457	broad.mit.edu	37	6	97051647	97051647	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:97051647A>T	ENST00000326771.2	+	3	538	c.158A>T	c.(157-159)aAg>aTg	p.K53M	FHL5_ENST00000541107.1_Splice_Site_p.K53M	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	53	LIM zinc-binding 1.					nucleus	zinc ion binding	p.K53M(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TCTGATTCTAAGGTAAGTCTC	0.358000													42	64					0	0	0.008740	0	0
LPPR5	163404	broad.mit.edu	37	1	99387500	99387500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:99387500G>A	ENST00000370188.3	-	4	1096	c.736C>T	c.(736-738)Cga>Tga	p.R246*	LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R246*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		246						integral to membrane	hydrolase activity	p.R246*(1)									CAATGATTTCGATATTCTGCT	0.368000													35	116					0	0	0.021022	0	0
DLC1	10395	broad.mit.edu	37	8	12947971	12947971	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:12947971C>T	ENST00000276297.4	-	15	4273	c.3864G>A	c.(3862-3864)gaG>gaA	p.E1288E	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.E777E|DLC1_ENST00000512044.2_Silent_p.E885E|DLC1_ENST00000358919.2_Silent_p.E851E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1288					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.E1288E(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCTCATTTCCTCGGGAACCT	0.517000													12	47					0	0	0.013537	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70728465	70728465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:70728465C>T	ENST00000370944.4	-	13	1874	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.D486N	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	521					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.D521N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATGGAGCCATCAAATTCATCG	0.408000													61	138					0	0	0.014410	0	0
C8orf33	65265	broad.mit.edu	37	8	146279413	146279413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:146279413C>G	ENST00000331434.6	+	5	674	c.560C>G	c.(559-561)tCa>tGa	p.S187*		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	187								p.S187*(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GCTGCTTATTCAGCCCAGGTG	0.478000													160	148					0	0	0.014410	0	0
HP	3240	broad.mit.edu	37	16	72094456	72094456	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:72094456G>A	ENST00000357763.4	+	8	1023	c.996G>A	c.(994-996)ctG>ctA	p.L332L	HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Silent_p.L237L|HP_ENST00000398131.2_Silent_p.L237L|HP_ENST00000355906.5_Silent_p.L296L|HP_ENST00000570083.1_Silent_p.L237L|HP_ENST00000562526.1_Intron			P00738	HPT_HUMAN	haptoglobin	0	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	p.L296L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTGACCATCTGAAGTATGTCA	0.493000													15	36					0	0	0.020292	0	0
TTC33	23548	broad.mit.edu	37	5	40730373	40730373	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:40730373C>T	ENST00000337702.4	-	3	446	c.294G>A	c.(292-294)atG>atA	p.M98I	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	98							binding	p.M98I(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGTGATTTCATCTCGTATA	0.368000													46	119					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13841027	13841027	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:13841027G>C	ENST00000265104.4	-	34	5801	c.5697C>G	c.(5695-5697)atC>atG	p.I1899M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1899	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1899M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCATCAAAGATATCCCTTT	0.383000									Kartagener syndrome				19	106					0	0	0.008871	0	0
MFSD5	84975	broad.mit.edu	37	12	53647277	53647277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:53647277C>T	ENST00000534842.1	+	2	1126	c.979C>T	c.(979-981)Cga>Tga	p.R327*	MFSD5_ENST00000329548.4_Nonsense_Mutation_p.R220*	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	220					transport	integral to membrane		p.R220*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTGGCCCTTCGAAACTGGGG	0.662000													32	79					0	0	0.015359	0	0
SNHG1	23642	broad.mit.edu	37	11	62622829	62622829	+	RNA	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:62622829A>G	ENST00000384147.1	-	0	9					NR_002564.1																						TCGTAAAATCATCCCCGTAGC	0.438000													33	73					0	0	0.010818	0	0
GPR98	84059	broad.mit.edu	37	5	90052949	90052949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:90052949C>T	ENST00000405460.2	+	57	12007	c.11911C>T	c.(11911-11913)Cat>Tat	p.H3971Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3971	Calx-beta 26.				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.H3971Y(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)		TAAACCATCTCATGGGATTCT	0.423000													22	49					0	0	0.012319	0	0
BRD4	23476	broad.mit.edu	37	19	15367816	15367816	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:15367816C>T	ENST00000263377.2	-	8	1731	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.E504K|BRD4_ENST00000360016.5_Missense_Mutation_p.E504K	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	504					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.E504K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGCTCCTCCTCAGAGTCATCA	0.647000			T	C15orf55	lethal midline carcinoma of young people								3	3					0	0	0.009096	0	0
PRSS54	221191	broad.mit.edu	37	16	58314274	58314274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:58314274C>T	ENST00000219301.4	-	7	1436	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E249K|PRSS54_ENST00000567164.1_Missense_Mutation_p.E348K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	348					proteolysis	extracellular region	serine-type endopeptidase activity	p.E348K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACAGACGCCTCAGGAGACCTG	0.478000													22	63					0	0	0.012319	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697282	153697282	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:153697282C>T	ENST00000369682.3	+	25	4579	c.4404C>T	c.(4402-4404)ctC>ctT	p.L1468L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1468					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.L1468L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					AGGACAAGCTCATCCGTCAGC	0.612000													34	23					0	0	0.021022	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782172	34782172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:34782172G>A	ENST00000338074.2	+	12	1500	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	EPB41L1_ENST00000373950.2_Missense_Mutation_p.D350N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.D416N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D385N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D447N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D385N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	447					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.D21N(1)|p.D447N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGAGAACCATGATGCAGGGCC	0.597000													6	28					0	0	0.003080	0	0
ZNF713	349075	broad.mit.edu	37	7	56007179	56007179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:56007179C>T	ENST00000429591.2	+	4	811	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S258L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCCACACCTCATCTCTTAGC	0.423000													24	65					0	0	0.021523	0	0
LSR	51599	broad.mit.edu	37	19	35758034	35758034	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:35758034C>G	ENST00000602122.1	+	8	1738	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L	LSR_ENST00000361790.3_Silent_p.L437L|LSR_ENST00000360798.3_Silent_p.L369L|LSR_ENST00000427250.1_Silent_p.L281L|LSR_ENST00000347609.4_Silent_p.L379L|LSR_ENST00000354900.3_Silent_p.L418L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	437					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	p.L437L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCACCTCCCTCCACGAGGACG	0.682000													6	33					0	0	0.001984	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871960	51871960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:51871960G>T	ENST00000371497.5	+	2	2850	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.E652*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.E652*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	655					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E655*(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GAAGGAGGAGGAGAAGCTGAT	0.592000													9	69					3.09899e-07	3.18855e-07	0.004482	1	0
RNF111	54778	broad.mit.edu	37	15	59344515	59344515	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:59344515G>A	ENST00000348370.4	+	3	1325	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	RNF111_ENST00000434298.1_Missense_Mutation_p.E298K|RNF111_ENST00000559209.1_Missense_Mutation_p.E298K|RNF111_ENST00000561186.1_Missense_Mutation_p.E298K|RNF111_ENST00000557998.1_Missense_Mutation_p.E298K	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	298	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E298K(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGTATTGATGAAGATGTTGT	0.373000													28	149					0	0	0.024334	0	0
RPEL1	729020	broad.mit.edu	37	10	105006301	105006301	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:105006301T>C	ENST00000441178.2	+	1	658	c.548T>C	c.(547-549)gTc>gCc	p.V183A		NM_001143909.1	NP_001137381.1												p.V183A(1)									TCTGACACTGTCCATAAGTGT	0.448000													22	51					0	0	0.010504	0	0
TDRD6	221400	broad.mit.edu	37	6	46658620	46658620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:46658620G>T	ENST00000544460.1	+	1	3009	c.2755G>T	c.(2755-2757)Gaa>Taa	p.E919*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E919*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	919					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.E919*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAAAATCTAGAATTAAAATG	0.338000													20	155					3.8784e-16	4.0753e-16	0.012319	1	0
OLFML3	56944	broad.mit.edu	37	1	114524373	114524373	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:114524373G>A	ENST00000369551.1	+	4	1431	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	OLFML3_ENST00000320334.4_Silent_p.K401K|OLFML3_ENST00000393300.2_Silent_p.K381K|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	401	Olfactomedin-like.				multicellular organismal development	extracellular region		p.K401K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATGAGGAAGAAAGAGGAGG	0.458000													8	26					0	0	0.004482	0	0
PDLIM3	27295	broad.mit.edu	37	4	186429463	186429463	+	Missense_Mutation	SNP	G	G	A	rs150809809		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:186429463G>A	ENST00000284770.5	-	5	725	c.652C>T	c.(652-654)Cct>Tct	p.P218S	PDLIM3_ENST00000284771.6_Intron|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	218						sarcomere	zinc ion binding	p.P218S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTCATCAAAGGTGTTTCCCCT	0.403000													39	151					0	0	0.009718	0	0
TMX1	81542	broad.mit.edu	37	14	51707163	51707163	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:51707163G>C	ENST00000457354.2	+	1	277		c.e1+1			NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1						anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	p.?(1)		endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TGATAGAATTGTGAGTGCGGG	0.647000													3	15					0	0	0.004672	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839578	173839578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:173839578C>T	ENST00000367701.5	+	2	406	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ZBTB37_ENST00000367702.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000427304.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000367704.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000432989.1_Missense_Mutation_p.S72L			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37		BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S72L(4)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GTCTCCATTTCAGTCATCAAG	0.483000													42	80					0	0	0.025465	0	0
ING3	54556	broad.mit.edu	37	7	120614801	120614801	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:120614801A>C	ENST00000315870.5	+	12	1308	c.1160A>C	c.(1159-1161)cAt>cCt	p.H387P	ING3_ENST00000431467.1_Missense_Mutation_p.H372P	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	387					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	p.H387P(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GAATGGTTCCATTATGGCTGC	0.413000													6	53					0	0	0.003080	0	0
RALY	22913	broad.mit.edu	37	20	32659982	32659982	+	Missense_Mutation	SNP	G	G	C	rs114080584	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:32659982G>C	ENST00000375114.3	+	3	680	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RALY_ENST00000246194.3_Missense_Mutation_p.K34N|RALY_ENST00000493399.1_3'UTR	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	34	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	p.K34N(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTCTGGTGAAGAAATCAGATG	0.488000													21	114					0	0	0.010504	0	0
SMPD1	6609	broad.mit.edu	37	11	6412757	6412757	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6412757C>G	ENST00000342245.4	+	2	630	c.462C>G	c.(460-462)agC>agG	p.S154R	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.S154R|SMPD1_ENST00000356761.2_Missense_Mutation_p.S154R|SMPD1_ENST00000527275.1_Missense_Mutation_p.S153R	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	152	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.S154R(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAGTGCTGAGCCCATCTGAGG	0.572000													16	23					0	0	0.028581	0	0
ZNF527	84503	broad.mit.edu	37	19	37880276	37880276	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:37880276T>A	ENST00000436120.2	+	5	1432	c.1325T>A	c.(1324-1326)tTc>tAc	p.F442Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F442Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTTCAAATGTAGT	0.428000													7	249					0	0	0.001984	0	0
ZBTB48	3104	broad.mit.edu	37	1	6649195	6649195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6649195G>A	ENST00000377674.4	+	11	2148	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	664						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E664K(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTGCAGAGGAGAGCTTCAC	0.667000													15	71					0	0	0.020292	0	0
FER1L5	90342	broad.mit.edu	37	2	97365766	97365766	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:97365766G>A	ENST00000457909.1	+	0	4382							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.E1654K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTTCAGTCCTGAGGAAGATGC	0.527000													26	50					0	0	0.007291	0	0
CES2	8824	broad.mit.edu	37	16	66976646	66976646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:66976646G>A	ENST00000317091.4	+	10	2554	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	460					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.E524K(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCATGGTGATGAGCTTCCTTT	0.552000													11	51					0	0	0.010729	0	0
MALAT1	378938	broad.mit.edu	37	11	65265316	65265316	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65265316G>A	ENST00000534336.1	+	0	84					NR_002819.2																						CCGGCGCCGGGAAGCCTCAGC	0.632000													31	49					0	0	0.019004	0	0
CUL1	8454	broad.mit.edu	37	7	148427336	148427336	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:148427336G>A	ENST00000325222.4	+	2	401	c.122G>A	c.(121-123)aGa>aAa	p.R41K	CUL1_ENST00000409469.1_Missense_Mutation_p.R41K|CUL1_ENST00000602748.1_Missense_Mutation_p.R41K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.R41K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCAAGTCCAGATATATGGAG	0.478000													14	89					0	0	0.020292	0	0
APBB1	322	broad.mit.edu	37	11	6432430	6432430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6432430G>C	ENST00000389906.2	-	2	247	c.148C>G	c.(148-150)Ctg>Gtg	p.L50V	APBB1_ENST00000299402.6_Missense_Mutation_p.L50V|APBB1_ENST00000609360.1_Missense_Mutation_p.L50V|APBB1_ENST00000311051.3_Missense_Mutation_p.L50V			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	50					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.L50V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCGCTGCGCAGGTCCTTGGGT	0.697000													18	114					0	0	0.006122	0	0
DNER	92737	broad.mit.edu	37	2	230341868	230341868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:230341868G>A	ENST00000341772.4	-	7	1383	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	417	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.Q417*(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCTGGACACTGGCAGGTGAAT	0.368000													38	21					0	0	0.023175	0	0
SDPR	8436	broad.mit.edu	37	2	192700978	192700978	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192700978C>G	ENST00000304141.4	-	2	1278	c.949G>C	c.(949-951)Gac>Cac	p.D317H		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	317						caveola|cytosol	phosphatidylserine binding|protein binding	p.D317H(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTAGGCAGGTCTTCTGACTTG	0.552000													74	127					0	0	0.014410	0	0
GLYAT	10249	broad.mit.edu	37	11	58478139	58478139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58478139C>T	ENST00000344743.3	-	5	553	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	GLYAT_ENST00000529732.1_Missense_Mutation_p.E138K|GLYAT_ENST00000278400.3_Missense_Mutation_p.E138K	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	138					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.E138K(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTGGCTGTTTCAGCTGCCATA	0.423000													39	199					0	0	0.013114	0	0
CD47	961	broad.mit.edu	37	3	107778373	107778373	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:107778373T>C	ENST00000355354.7	-	5	733	c.617A>G	c.(616-618)aAt>aGt	p.N206S	CD47_ENST00000361309.5_Missense_Mutation_p.N206S	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	206					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	p.N206S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GCCAGTAGCATTCTTTAATGA	0.284000													21	165					0	0	0.014323	0	0
FGF8	2253	broad.mit.edu	37	10	103531247	103531247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103531247C>T	ENST00000347978.2	-	4	499	c.330G>A	c.(328-330)atG>atA	p.M110I	FGF8_ENST00000346714.3_Missense_Mutation_p.M99I|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Missense_Mutation_p.M128I|FGF8_ENST00000320185.2_Missense_Mutation_p.M139I	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	128					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	p.M139I(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCTTCTTGTTCATGCAGATGT	0.607000													16	30					0	0	0.004990	0	0
CNN3	1266	broad.mit.edu	37	1	95363303	95363303	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:95363303A>C	ENST00000370206.4	-	7	1368	c.985T>G	c.(985-987)Tat>Gat	p.Y329D	CNN3_ENST00000538964.1_Missense_Mutation_p.Y329D|CNN3_ENST00000394202.4_Missense_Mutation_p.Y283D|CNN3_ENST00000545882.1_Missense_Mutation_p.Y288D	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	329	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	p.Y329D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TGGATCTAATAATCAATGCCT	0.398000													33	154					0	0	0.013726	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140559208G>C	ENST00000239444.2	+	1	1838	c.1593G>C	c.(1591-1593)cgG>cgC	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													11	108					0	0	0.028581	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899596	45899596	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:45899596G>A	ENST00000418234.2	-	5	889	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	PPP1R13L_ENST00000360957.5_Splice_Site_p.R271C	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	271	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.R271C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCACTCACGTTCATAGCTC	0.652000													15	41					0	0	0.028581	0	0
FBXO33	254170	broad.mit.edu	37	14	39868857	39868857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:39868857G>A	ENST00000298097.7	-	4	1868	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	511								p.H511Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATAAGGTTATGCACTGGATCT	0.488000													9	26					0	0	0.008291	0	0
FCGBP	8857	broad.mit.edu	37	19	40408603	40408603	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:40408603G>C	ENST00000221347.6	-	8	4243	c.4236C>G	c.(4234-4236)gcC>gcG	p.A1412A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1412	VWFD 3.					extracellular region	protein binding	p.A1412A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAACTCATTGGCGTTGCCTG	0.632000													16	44					0	0	0.004990	0	0
CROCC	9696	broad.mit.edu	37	1	17249254	17249254	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:17249254G>A	ENST00000375541.5	+	2	226	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	53					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.E53K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTTATCAGGGAGATTGTCAC	0.622000													35	109					0	0	0.017118	0	0
ATR	545	broad.mit.edu	37	3	142184050	142184050	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:142184050C>G	ENST00000350721.4	-	41	7051	c.6930G>C	c.(6928-6930)aaG>aaC	p.K2310N	ATR_ENST00000383101.3_Missense_Mutation_p.K2246N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2310					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.K2310N(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGAAATCTTCTTTGGTTTCT	0.318000								Other conserved DNA damage response genes					18	109					0	0	0.007413	0	0
SPATS2	65244	broad.mit.edu	37	12	49890687	49890687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49890687C>T	ENST00000553127.1	+	9	1111	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Nonsense_Mutation_p.Q200*|SPATS2_ENST00000552918.1_Nonsense_Mutation_p.Q200*			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm		p.Q200*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TCACAATTCTCAACAACCCAG	0.433000													62	126					0	0	0.014410	0	0
CCNA1	8900	broad.mit.edu	37	13	37011849	37011849	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:37011849C>T	ENST00000418263.1	+	3	728	c.378C>T	c.(376-378)gtC>gtT	p.V126V	CCNA1_ENST00000255465.4_Silent_p.V127V|CCNA1_ENST00000449823.1_Silent_p.V83V|CCNA1_ENST00000440264.1_Silent_p.V83V	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	127					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.V127V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACTGTGGGGTCCAAGAGCCCC	0.498000													32	74					0	0	0.009535	0	0
KPNA1	3836	broad.mit.edu	37	3	122168479	122168479	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:122168479C>G	ENST00000344337.6	-	9	1035	c.859G>C	c.(859-861)Gat>Cat	p.D287H	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	287	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	p.D287H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGAATTTTATCATTGGGTCCA	0.458000													18	102					0	0	0.006122	0	0
RAD51C	5889	broad.mit.edu	37	17	56809868	56809868	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:56809868C>A	ENST00000337432.4	+	8	1060	c.989C>A	c.(988-990)cCc>cAc	p.P330H	RAD51C_ENST00000583539.1_Missense_Mutation_p.P330H	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	330					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.P330H(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACAAGTCACCCAGCCAGAAG	0.328000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				24	83					7.26314e-15	7.60494e-15	0.007291	1	0
MALAT1	378938	broad.mit.edu	37	11	65267742	65267742	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65267742G>A	ENST00000534336.1	+	0	2510					NR_002819.2																						TGAAAAATGTGAAGGACTTTC	0.318000													15	40					0	0	0.020292	0	0
DHX35	60625	broad.mit.edu	37	20	37621005	37621005	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:37621005C>T	ENST00000252011.3	+	7	552	c.519C>T	c.(517-519)atC>atT	p.I173I	DHX35_ENST00000373323.4_Silent_p.I142I|DHX35_ENST00000373325.2_Silent_p.I173I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	173	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.I173I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTAGTGTCATCATGCTGGATG	0.433000													49	126					0	0	0.014410	0	0
POGK	57645	broad.mit.edu	37	1	166818747	166818747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:166818747C>G	ENST00000367875.1	+	5	1291	c.931C>G	c.(931-933)Cga>Gga	p.R311G	POGK_ENST00000537173.1_Missense_Mutation_p.R193G|POGK_ENST00000367876.4_Missense_Mutation_p.R311G|POGK_ENST00000536514.1_Missense_Mutation_p.R226G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	311	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	p.R311G(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGGTTGGTGTCGAAGAATGAT	0.547000													14	95					0	0	0.024245	0	0
NR3C2	4306	broad.mit.edu	37	4	149073701	149073701	+	Missense_Mutation	SNP	G	G	A	rs41511344		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:149073701G>A	ENST00000355292.3	-	6	2803	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	NR3C2_ENST00000344721.4_Missense_Mutation_p.S810L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S693L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S814L|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.S810L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	810	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S810L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCAAATGATGATAGACACAT	0.353000													15	59					0	0	0.024245	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235859	63235859	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:63235859C>A	ENST00000540857.1	-	4	556	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	HRASLS5_ENST00000539221.1_Missense_Mutation_p.D152Y|HRASLS5_ENST00000301790.4_Missense_Mutation_p.D152Y	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	152								p.D152Y(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACGCAATCATCTTCTACATAG	0.388000													29	192					1.13719e-10	1.18374e-10	0.008361	1	0
PPRC1	23082	broad.mit.edu	37	10	103901412	103901412	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103901412G>A	ENST00000278070.2	+	5	3186	c.3147G>A	c.(3145-3147)caG>caA	p.Q1049Q	PPRC1_ENST00000413464.2_Silent_p.Q1049Q|PPRC1_ENST00000370012.1_Silent_p.Q16Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1049	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.Q1049Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGCTCCTCAGACAGAGCCTA	0.582000													4	26					0	0	0.009096	0	0
ASPM	259266	broad.mit.edu	37	1	197070599	197070599	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:197070599C>T	ENST00000367409.4	-	18	8038	c.7782G>A	c.(7780-7782)caG>caA	p.Q2594Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2594					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2594Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAATACTTTCTGTTTCTTTT	0.353000													18	86					0	0	0.004990	0	0
CSE1L	1434	broad.mit.edu	37	20	47704592	47704592	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:47704592C>T	ENST00000262982.2	+	17	1893	c.1770C>T	c.(1768-1770)taC>taT	p.Y590Y	CSE1L_ENST00000396192.3_Silent_p.Y534Y|CSE1L_ENST00000542325.1_Silent_p.Y373Y	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	590					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.Y590Y(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TAATCCCCTACATCCCTACTC	0.348000													36	106					0	0	0.027894	0	0
AKR7L	246181	broad.mit.edu	37	1	19595155	19595155	+	RNA	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:19595155C>A	ENST00000420396.2	-	0	547				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like									p.E71*(1)		breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						AGGGCCTTCTCCACCAGGGCA	0.632000													14	86					2.32078e-09	2.40454e-09	0.024245	1	0
PRRG4	79056	broad.mit.edu	37	11	32858272	32858272	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:32858272G>C	ENST00000257836.3	+	3	425	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	58	Gla.					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	p.E58Q(1)		large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ATTTGATCTGGAGCTCTTCAC	0.348000													15	67					0	0	0.020292	0	0
ZNF689	115509	broad.mit.edu	37	16	30620909	30620909	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:30620909C>T	ENST00000287461.3	-	2	593	c.256G>A	c.(256-258)Gat>Aat	p.D86N	ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D86N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TCCCAGTCATCGGTGTTTCGT	0.567000													9	53					0	0	0.008291	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019252	27019252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:27019252G>C	ENST00000354760.3	+	3	129	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	32	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.E32Q(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTTCACGGCCGAGTGCCCCAG	0.592000													15	90					0	0	0.024245	0	0
HRC	3270	broad.mit.edu	37	19	49658329	49658329	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49658329C>T	ENST00000252825.4	-	1	352	c.166G>A	c.(166-168)Gag>Aag	p.E56K	HRC_ENST00000595625.1_Missense_Mutation_p.E56K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	56					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E56K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGCGAAGCTCTGCTGATGCC	0.597000													58	121					0	0	0.014410	0	0
RLTPR	146206	broad.mit.edu	37	16	67683380	67683380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67683380C>T	ENST00000334583.6	+	20	2105	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R557W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	593	Tropomodulin-like.							p.R633W(1)|p.R593W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCTGAGTCTCGGCTGAAGCT	0.632000													6	26					0	0	0.003080	0	0
PSPC1	55269	broad.mit.edu	37	13	20283725	20283725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:20283725C>T	ENST00000338910.4	-	7	1332	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.M391I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CACCCATTCTCATTTCCTGTT	0.373000													50	115					0	0	0.014410	0	0
NMD3	51068	broad.mit.edu	37	3	160958933	160958933	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:160958933G>C	ENST00000460469.1	+	9	1308	c.853G>C	c.(853-855)Gat>Cat	p.D285H	NMD3_ENST00000472947.1_Missense_Mutation_p.D285H|NMD3_ENST00000351193.2_Missense_Mutation_p.D285H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	285					protein transport	cytoplasm|nucleolus|nucleoplasm		p.D285H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCACCTCATTGATCCAAACAC	0.363000													17	154					0	0	0.006122	0	0
MBD2	8932	broad.mit.edu	37	18	51731413	51731413	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:51731413C>T	ENST00000256429.3	-	2	885	c.657G>A	c.(655-657)caG>caA	p.Q219Q	MBD2_ENST00000398398.2_Silent_p.Q219Q|MBD2_ENST00000583046.1_Silent_p.Q219Q	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	219					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	p.Q219Q(1)		breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GTTTGTTCTTCTGTAATTTAC	0.388000													74	148					0	0	0.014410	0	0
ECE2	9718	broad.mit.edu	37	3	184002817	184002817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:184002817G>A	ENST00000402825.3	+	9	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.D329N|ECE2_ENST00000404464.3_Missense_Mutation_p.D358N|ECE2_ENST00000357474.5_Missense_Mutation_p.D404N	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	476	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.D476N(1)|p.D404N(1)|p.D329N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGTTGAGTGACTCTGAGCC	0.552000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	126					0	0	0.014410	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840056	27840056	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:27840056C>T	ENST00000356790.2	+	3	878	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	211	MAGE.							p.I211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGGGTATTATCTTCACAAATG	0.473000													15	38					0	0	0.024245	0	0
DOCK1	1793	broad.mit.edu	37	10	129245729	129245729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:129245729G>A	ENST00000280333.6	+	51	5531	c.5422G>A	c.(5422-5424)Gtg>Atg	p.V1808M		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1808	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.V1808M(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAAAGGCAGCGTGGCAGATTA	0.572000													7	15					0	0	0.003080	0	0
THAP10	56906	broad.mit.edu	37	15	71174897	71174897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:71174897C>T	ENST00000249861.4	-	3	1182	c.670G>A	c.(670-672)Gac>Aac	p.D224N	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	224							DNA binding|metal ion binding	p.D224N(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGTAAATGTCAAAGAGAGAG	0.393000													34	187					0	0	0.013726	0	0
CIT	11113	broad.mit.edu	37	12	120221778	120221778	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:120221778C>T	ENST00000392521.2	-	12	1534	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	CIT_ENST00000261833.7_Silent_p.L493L|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	493					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.L493L(2)|p.L494L(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGAGGCCTTCAGCTCCACCT	0.542000													62	273					0	0	0.014410	0	0
MYOT	9499	broad.mit.edu	37	5	137219160	137219160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:137219160G>C	ENST00000239926.4	+	7	1278	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.E187Q|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.E118Q	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	302	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	p.E302Q(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATAGTGTCTGAGAAGGGTCT	0.433000													25	88					0	0	0.018920	0	0
EEF1G	1937	broad.mit.edu	37	11	62334336	62334336	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:62334336C>T	ENST00000378019.3	-	7	1039	c.949G>A	c.(949-951)Gag>Aag	p.E317K	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.E267K			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	267	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.E267K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCGCCTGCTCACATTCATCC	0.602000													31	53					0	0	0.010818	0	0
TAF1A	9015	broad.mit.edu	37	1	222743964	222743964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:222743964G>A	ENST00000350027.4	-	6	801	c.648C>T	c.(646-648)ttC>ttT	p.F216F	TAF1A_ENST00000543857.1_Silent_p.F216F|TAF1A_ENST00000366890.1_Silent_p.F102F|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000352967.4_Silent_p.F216F|TAF1A_ENST00000391882.1_Silent_p.F102F	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	216					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.F216F(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		AGCTGTGGTTGAACACATCCT	0.363000													85	166					0	0	0.014410	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414425	121414425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121414425G>A	ENST00000393667.3	-	13	5055	c.4945C>T	c.(4945-4947)Caa>Taa	p.Q1649*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q1644*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1644					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q1644*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TACAGTTCTTGTTTCTCTTGC	0.408000													137	227					0	0	0.014410	0	0
TMX2	51075	broad.mit.edu	37	11	57506699	57506699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:57506699G>C	ENST00000278422.4	+	7	723	c.711G>C	c.(709-711)aaG>aaC	p.K237N	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.K199N	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	237	Thioredoxin.				cell redox homeostasis	integral to membrane		p.K237N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						AGATTGACAAGAAAGGACGGG	0.562000													16	110					0	0	0.004990	0	0
C3orf38	285237	broad.mit.edu	37	3	88205273	88205273	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:88205273C>G	ENST00000318887.3	+	3	788	c.478C>G	c.(478-480)Cta>Gta	p.L160V	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	160					apoptosis			p.L158V(2)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GAATCCTTTTCTAGGACCACC	0.388000													48	114					0	0	0.014410	0	0
PPIL4	85313	broad.mit.edu	37	6	149856762	149856762	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:149856762T>C	ENST00000253329.2	-	5	466	c.434A>G	c.(433-435)gAc>gGc	p.D145G		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	145	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	p.D145G(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		AAAGTCCTTGTCAACAAAGGT	0.353000													38	77					0	0	0.021022	0	0
IL3RA	3563	broad.mit.edu	37	X	1475113	1475113	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:1475113G>A	ENST00000331035.4	+	7	965		c.e7-1		IL3RA_ENST00000381469.2_Splice_Site	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)							integral to membrane|plasma membrane	interleukin-3 receptor activity	p.?(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCGTTGCTAGAGATATTAAC	0.328000													52	171					0	0	0.014410	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49377076G>A	ENST00000200453.5	+	2	855	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.E196K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532000													40	56					0	0	0.025465	0	0
SETD2	29072	broad.mit.edu	37	3	47164187	47164187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:47164187C>T	ENST00000409792.3	-	3	1981	c.1939G>A	c.(1939-1941)Gat>Aat	p.D647N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.D144N(1)|p.D647N(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATACTATCATGGCTATCA	0.318000			"""N, F, S, Mis"""		clear cell renal carcinoma								17	110					0	0	0.028581	0	0
SLC9A8	23315	broad.mit.edu	37	20	48503324	48503324	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:48503324C>T	ENST00000417961.1	+	15	1785	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	SLC9A8_ENST00000541138.1_Silent_p.L209L|SLC9A8_ENST00000539601.1_Silent_p.L290L|SLC9A8_ENST00000361573.2_Silent_p.L509L|SLC9A8_ENST00000490250.1_3'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	509						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.L509L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTCGGAGCTCACGGAGGAGG	0.647000													23	61					0	0	0.024334	0	0
CLINT1	9685	broad.mit.edu	37	5	157218935	157218935	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:157218935C>T	ENST00000523094.1	-	10	1307	c.1102G>A	c.(1102-1104)Gtt>Att	p.V368I	CLINT1_ENST00000523908.1_Missense_Mutation_p.V386I|CLINT1_ENST00000411809.2_Missense_Mutation_p.V386I|CLINT1_ENST00000530742.1_Missense_Mutation_p.V368I|CLINT1_ENST00000296951.5_Missense_Mutation_p.V368I	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	386					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.V368I(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGAAGCAACAGGGCCTGAT	0.512000													8	46					0	0	0.008291	0	0
TMED1	11018	broad.mit.edu	37	19	10943614	10943614	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10943614C>T	ENST00000591695.1	-	3	683	c.557G>A	c.(556-558)tGa>tAa	p.*186*	TMED1_ENST00000214869.2_3'UTR			Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	0					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CCCCAAGTCTCATATGCACAC	0.612000													7	22					0	0	0.001984	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													8	17					0	0	0.006214	0	0
OR51A7	119687	broad.mit.edu	37	11	4928820	4928820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:4928820C>T	ENST00000359350.4	+	1	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74F(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCCTGTCCCTCTCCTCC	0.463000													7	176					0	0	0.006320	0	0
ZNF7	7553	broad.mit.edu	37	8	146068042	146068042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:146068042G>A	ENST00000528372.1	+	5	1790	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.R421K|ZNF7_ENST00000446747.2_Missense_Mutation_p.R528K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R517K			P17097	ZNF7_HUMAN	zinc finger protein 7	517					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R517K(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TACCATCAGAGAATCCATAAA	0.453000													14	102					0	0	0.016723	0	0
TCF20	6942	broad.mit.edu	37	22	42610021	42610021	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:42610021G>C	ENST00000359486.3	-	1	1427	c.1291C>G	c.(1291-1293)Cat>Gat	p.H431D	TCF20_ENST00000335626.4_Missense_Mutation_p.H431D	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.H431D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTGCAGCATGAGAATTAGGA	0.488000													27	120					0	0	0.027356	0	0
GALM	130589	broad.mit.edu	37	2	38893363	38893363	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:38893363G>A	ENST00000272252.5	+	1	312	c.60G>A	c.(58-60)gaG>gaA	p.E20E	GALM_ENST00000410063.1_Silent_p.E20E	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	20					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	p.E20E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GGACAGTGGAGAAGTTCCAGC	0.597000													16	45					0	0	0.024245	0	0
PRPF8	10594	broad.mit.edu	37	17	1576684	1576684	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1576684G>T	ENST00000572621.1	-	22	3889	c.3624C>A	c.(3622-3624)acC>acA	p.T1208T	PRPF8_ENST00000304992.6_Silent_p.T1208T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1208						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.T1208T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGTCCTTGTGGGTGAACTCCT	0.587000													7	36					2.0095e-06	2.05806e-06	0.001984	1	0
KLC1	3831	broad.mit.edu	37	14	104121150	104121150	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:104121150G>A	ENST00000389744.4	+	2	518	c.249G>A	c.(247-249)ctG>ctA	p.L83L	KLC1_ENST00000380038.3_Silent_p.L83L|KLC1_ENST00000452929.2_Silent_p.L83L|KLC1_ENST00000334553.6_Silent_p.L83L|KLC1_ENST00000246489.7_Silent_p.L83L|KLC1_ENST00000555836.1_Silent_p.L83L|KLC1_ENST00000557575.1_Silent_p.L83L|KLC1_ENST00000445352.4_Silent_p.L83L|KLC1_ENST00000347839.6_Silent_p.L83L|KLC1_ENST00000554280.1_Silent_p.L83L|KLC1_ENST00000348520.6_Silent_p.L83L|RP11-73M18.2_ENST00000472726.2_Silent_p.L255L|KLC1_ENST00000557450.1_Silent_p.L83L|KLC1_ENST00000553286.1_Silent_p.L83L			Q07866	KLC1_HUMAN	kinesin light chain 1	83					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.L83L(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGCTCGGCCTGAGTGAGGCAC	0.418000													9	53					0	0	0.004482	0	0
FCN2	2220	broad.mit.edu	37	9	137777709	137777709	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:137777709G>A	ENST00000350339.2	+	5	425	c.411G>A	c.(409-411)ctG>ctA	p.L137L	FCN2_ENST00000291744.6_Silent_p.L175L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	175	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.L175L(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGTTCTGGCTGGGGAATGACA	0.672000													26	24					0	0	0.024334	0	0
ERCC2	2068	broad.mit.edu	37	19	45873455	45873455	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:45873455T>C	ENST00000391945.4	-	2	118	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	ERCC2_ENST00000221481.6_Missense_Mutation_p.Y14C|ERCC2_ENST00000485403.2_5'UTR|ERCC2_ENST00000391940.4_5'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y14C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	14	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.Y14C(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGTAGTCGTACGGGAAGTA	0.682000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	27					0	0	0.021553	0	0
TCEA3	6920	broad.mit.edu	37	1	23713897	23713897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:23713897C>T	ENST00000450454.2	-	9	941	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	279	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	p.E279K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCCTCAGTTCATCACTGGCC	0.557000													17	11					0	0	0.004990	0	0
DAXX	1616	broad.mit.edu	37	6	33287200	33287200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33287200G>A	ENST00000374542.5	-	6	2101	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	DAXX_ENST00000266000.6_Missense_Mutation_p.R633W|DAXX_ENST00000414083.2_Missense_Mutation_p.R558W	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	633	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.R633W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCTCCTTCCGAGATTTTTTG	0.507000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								47	225					0	0	0.014410	0	0
ZFP82	284406	broad.mit.edu	37	19	36884578	36884578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:36884578C>T	ENST00000392161.3	-	5	906	c.664G>A	c.(664-666)Ggt>Agt	p.G222S	ZFP82_ENST00000392171.1_Missense_Mutation_p.G222S	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G222S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTCACCAGAATGAAGT	0.413000													29	118					0	0	0.007291	0	0
SBF2	81846	broad.mit.edu	37	11	9806738	9806738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:9806738G>A	ENST00000256190.8	-	37	5302	c.5165C>T	c.(5164-5166)tCc>tTc	p.S1722F	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1722					myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.S1722F(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTCCATTGGATGGGGAGAT	0.507000													13	66					0	0	0.013537	0	0
DSP	1832	broad.mit.edu	37	6	7580702	7580702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7580702G>A	ENST00000379802.3	+	23	4620	c.4279G>A	c.(4279-4281)Gaa>Aaa	p.E1427K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1427	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1427K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGGAGGGTGGAAGAAGACAT	0.483000													11	58					0	0	0.010729	0	0
PTPN13	5783	broad.mit.edu	37	4	87691109	87691109	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:87691109A>G	ENST00000436978.1	+	29	5172	c.4692A>G	c.(4690-4692)ggA>ggG	p.G1564G	PTPN13_ENST00000427191.2_Silent_p.G1540G|PTPN13_ENST00000411767.2_Silent_p.G1559G|PTPN13_ENST00000316707.6_Silent_p.G1368G|PTPN13_ENST00000511467.1_Silent_p.G1564G	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1559	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.G1564G(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGTGAATGGAGCCTCTTTGA	0.408000													17	116					0	0	0.004990	0	0
ANXA13	312	broad.mit.edu	37	8	124693585	124693585	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:124693585C>T	ENST00000262219.6	-	12	1036	c.969G>A	c.(967-969)ggG>ggA	p.G323G	ANXA13_ENST00000419625.1_Silent_p.G282G	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	282					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.G323G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCTTTGATCCCCTGAAGGT	0.453000													140	129					0	0	0.014410	0	0
BICC1	80114	broad.mit.edu	37	10	60273078	60273078	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:60273078G>A	ENST00000373886.3	+	1	179	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	59					multicellular organismal development		RNA binding	p.E59K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAAGAAACTTGAGGCCATGTT	0.657000													20	34					0	0	0.012319	0	0
KRT34	3885	broad.mit.edu	37	17	39538574	39538574	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:39538574C>T	ENST00000394001.1	-	1	81	c.51G>A	c.(49-51)caG>caA	p.Q17Q		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	17	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.Q17Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCTTCCTCTGCAGTCCTT	0.458000													19	84					0	0	0.010504	0	0
PUM2	23369	broad.mit.edu	37	2	20451400	20451400	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:20451400C>T	ENST00000361078.2	-	20	3169	c.3147G>A	c.(3145-3147)ttG>ttA	p.L1049L	PUM2_ENST00000319801.5_Silent_p.L970L|PUM2_ENST00000403432.1_Silent_p.L1047L|PUM2_ENST00000536417.1_Silent_p.L991L|PUM2_ENST00000338086.5_Silent_p.L1047L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1049					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.L1047L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTATTCTTCAAATAATACT	0.378000													84	219					0	0	0.014410	0	0
TEX29	121793	broad.mit.edu	37	13	111973258	111973258	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:111973258G>A	ENST00000283547.1	+	2	150	c.21G>A	c.(19-21)gtG>gtA	p.V7V		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	7						integral to membrane		p.V7V(1)									TGCTGGAAGTGAAGAACTCTC	0.652000													18	45					0	0	0.012319	0	0
ABL1	25	broad.mit.edu	37	9	133760298	133760298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:133760298G>A	ENST00000318560.5	+	11	3002	c.2621G>A	c.(2620-2622)aGa>aAa	p.R874K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	874	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.R874K(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAGGAGTCCAGAGTGAGGAGG	0.667000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								5	12					0	0	0.001984	0	0
URB2	9816	broad.mit.edu	37	1	229773668	229773668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229773668C>T	ENST00000258243.2	+	4	3444	c.3308C>T	c.(3307-3309)tCa>tTa	p.S1103L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1103						nucleolus		p.S1103L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCTCTGCTCAGTGCCGGGG	0.647000													17	69					0	0	0.010504	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:18122786C>A	ENST00000340650.3	-	1	65	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	18					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E18*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711000													4	17					0.00909568	0.00917818	0.009096	1	0
CD8A	925	broad.mit.edu	37	2	87017667	87017667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:87017667C>T	ENST00000409511.2	-	5	1217	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	CD8A_ENST00000538832.1_Missense_Mutation_p.A104T|CD8A_ENST00000352580.3_Missense_Mutation_p.A63T|CD8A_ENST00000409781.1_Missense_Mutation_p.A63T|CD8A_ENST00000456996.2_Missense_Mutation_p.A63T|CD8A_ENST00000283635.3_Missense_Mutation_p.A63T	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	63	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.A63T(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CTGGCGGCGGCGCCGCGCGGC	0.672000													23	36					0	0	0.014323	0	0
TLE6	79816	broad.mit.edu	37	19	2987903	2987903	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:2987903G>A	ENST00000246112.4	+	10	834	c.633G>A	c.(631-633)agG>agA	p.R211R	TLE6_ENST00000452088.1_Silent_p.R88R|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	88					regulation of transcription, DNA-dependent	nucleus		p.R211R(1)|p.R88R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCCCCCAGGCCACCTGAGG	0.667000													13	18					0	0	0.020292	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283235	33283235	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33283235G>A	ENST00000431845.2	-	2	1610	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	ZBTB22_ENST00000418724.1_Silent_p.L487L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L487L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAATGGCACAGAAAGATCTTA	0.627000													38	141					0	0	0.019004	0	0
DNASE2B	58511	broad.mit.edu	37	1	84867740	84867740	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:84867740A>G	ENST00000370665.3	+	2	315	c.282A>G	c.(280-282)ctA>ctG	p.L94L		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	94					DNA metabolic process	lysosome	deoxyribonuclease II activity	p.L94L(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TACAACAGCTATATGAAGCAT	0.363000													6	28					0	0	0.021553	0	0
OR10A2	341276	broad.mit.edu	37	11	6891489	6891489	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6891489C>A	ENST00000307322.4	+	1	566	c.504C>A	c.(502-504)agC>agA	p.S168R		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S168R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTGTGACAGCCCACCTGTGC	0.532000													19	185					1.10923e-09	1.1506e-09	0.016522	1	0
IL18RAP	8807	broad.mit.edu	37	2	103068499	103068499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103068499C>A	ENST00000264260.2	+	12	2247	c.1658C>A	c.(1657-1659)gCc>gAc	p.A553D	IL18RAP_ENST00000409369.1_Missense_Mutation_p.A411D	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	553	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.A553D(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGGTTCTGGGCCAAAATGCGC	0.463000													77	171					5.72124e-26	6.07626e-26	0.014410	1	0
NLRP1	22861	broad.mit.edu	37	17	5462822	5462822	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:5462822G>A	ENST00000345221.3	-	4	1748	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	NLRP1_ENST00000572272.1_Silent_p.I398I|NLRP1_ENST00000262467.5_Silent_p.I398I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.I398I|NLRP1_ENST00000354411.3_Silent_p.I398I|NLRP1_ENST00000269280.4_Silent_p.I398I	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	398	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.I398I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTAGACAGGATCTGTCTAA	0.577000													6	38					0	0	0.004482	0	0
CHD7	55636	broad.mit.edu	37	8	61748694	61748694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:61748694C>T	ENST00000423902.2	+	16	4320	c.3841C>T	c.(3841-3843)Cag>Tag	p.Q1281*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1281					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.Q1281*(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCAGATTTTCAGCTCCAGGC	0.458000													14	13					0	0	0.016723	0	0
CASC3	22794	broad.mit.edu	37	17	38320174	38320174	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:38320174G>T	ENST00000264645.7	+	7	1452	c.1226G>T	c.(1225-1227)aGa>aTa	p.R409I		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	409	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.R409I(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CGGGCAAGAAGAACTCGAACC	0.567000													5	184					1.024e-07	1.05726e-07	0.014758	1	0
GREB1	9687	broad.mit.edu	37	2	11765299	11765299	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:11765299C>T	ENST00000381486.2	+	24	4467	c.4167C>T	c.(4165-4167)gaC>gaT	p.D1389D	GREB1_ENST00000396123.1_Silent_p.D387D|GREB1_ENST00000234142.5_Silent_p.D1389D	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1389						integral to membrane		p.D1389D(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAGAATCTGACTGGCATTATC	0.438000													41	263					0	0	0.025465	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795688	208795688	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:208795688G>A	ENST00000457206.1	-	5	2275	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	PLEKHM3_ENST00000389247.4_Silent_p.F616F|PLEKHM3_ENST00000427836.2_Silent_p.F616F			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	616					intracellular signal transduction		metal ion binding	p.F616F(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGGCAGCTGAACAAATAGG	0.627000													22	20					0	0	0.011902	0	0
P2RY13	53829	broad.mit.edu	37	3	151046193	151046193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:151046193G>C	ENST00000325602.5	-	2	670	c.651C>G	c.(649-651)ttC>ttG	p.F217L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	217						integral to membrane|plasma membrane		p.F217L(1)|p.F196L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAACAGTCCAGAAAATAAACT	0.358000													14	141					0	0	0.020292	0	0
HELZ	9931	broad.mit.edu	37	17	65141898	65141898	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:65141898T>C	ENST00000358691.5	-	21	2896	c.2730A>G	c.(2728-2730)gtA>gtG	p.V910V	HELZ_ENST00000580168.1_Silent_p.V911V	NM_014877.3	NP_055692			helicase with zinc finger									p.V910V(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTTTTCTTGTACATCTTCTC	0.373000													11	108					0	0	0.008291	0	0
GORASP1	64689	broad.mit.edu	37	3	39139937	39139937	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:39139937C>T	ENST00000319283.3	-	9	1934	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	GORASP1_ENST00000476334.1_5'UTR|GORASP1_ENST00000422110.2_Silent_p.L216L|GORASP1_ENST00000479927.1_Silent_p.L276L	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	371					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		p.L371L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGCTGTCCAGGAAGGAGA	0.592000													15	33					0	0	0.020292	0	0
HOXC6	3223	broad.mit.edu	37	12	54423560	54423560	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:54423560C>T	ENST00000394331.3	+	3	1986	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|HOXC6_ENST00000243108.4_Silent_p.I174I	NM_153693.4	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	174					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I174I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCATCGAGATCGCCAACGCGC	0.562000													24	92					0	0	0.018920	0	0
ERG	2078	broad.mit.edu	37	21	39755527	39755527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:39755527G>A	ENST00000442448.1	-	11	1458	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L	ERG_ENST00000398919.2_Missense_Mutation_p.S420L|ERG_ENST00000398897.1_Missense_Mutation_p.S297L|ERG_ENST00000398907.1_Missense_Mutation_p.S390L|ERG_ENST00000398910.1_Missense_Mutation_p.S397L|ERG_ENST00000288319.7_Missense_Mutation_p.S413L|ERG_ENST00000398905.1_Missense_Mutation_p.S389L|ERG_ENST00000417133.2_Missense_Mutation_p.S420L|ERG_ENST00000398911.1_Missense_Mutation_p.S396L|ERG_ENST00000453032.2_Missense_Mutation_p.S321L	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	420					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S420L(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CGGGAGGTCTGAGGGGTACTT	0.597000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								62	71					0	0	0.014410	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417118	121417118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121417118C>G	ENST00000393667.3	-	13	2362	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R746T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	746					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.R746T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGCTGGTCTCTTTCTTCAGA	0.423000													63	175					0	0	0.014410	0	0
SDPR	8436	broad.mit.edu	37	2	192700708	192700708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192700708C>G	ENST00000304141.4	-	2	1548	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	407						caveola|cytosol	phosphatidylserine binding|protein binding	p.E407Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCGGAGCGCTCCGCCTCCTCG	0.617000													28	73					0	0	0.027356	0	0
CRAT	1384	broad.mit.edu	37	9	131864290	131864290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:131864290G>A	ENST00000318080.2	-	6	971	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	226					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	p.A226V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GATCTGATCCGCAGTGAGGGG	0.567000													4	38					0	0	0.009096	0	0
CCDC142	84865	broad.mit.edu	37	2	74708006	74708006	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:74708006G>A	ENST00000393965.3	-	5	1789	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Silent_p.L458L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	465								p.L458L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCATGCAACAGAGGCTTTGGG	0.572000													39	100					0	0	0.025465	0	0
EPHA10	284656	broad.mit.edu	37	1	38197174	38197174	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:38197174G>A	ENST00000373048.4	-	7	1571	c.1572C>T	c.(1570-1572)cgC>cgT	p.R524R	EPHA10_ENST00000540011.1_Silent_p.R19R|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.R524R|EPHA10_ENST00000330210.7_Silent_p.R19R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	524	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R525R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAGACGTAGCGGGTAGCCG	0.587000													40	72					0	0	0.014410	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566319	27566319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27566319C>T	ENST00000359541.2	-	2	532	c.103G>A	c.(103-105)Gat>Aat	p.D35N	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D35N			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	35						transcription factor TFIIIC complex		p.D35N(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTGACATCAAGCTGATTT	0.547000													82	199					0	0	0.014410	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													8	60					0	0	0.003080	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236427	103236427	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103236427G>A	ENST00000233969.2	+	1	262	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	40						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.P40P(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGAACGCGCCGAGGGCCATGG	0.711000													4	15					0	0	0.009096	0	0
LOC643733	643733	broad.mit.edu	37	11	104774208	104774208	+	RNA	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:104774208C>G	ENST00000532510.1	-	0	3328																											GTAGAAATATCTTGTCATGGA	0.408000													13	39					0	0	0.024245	0	0
MYH9	4627	broad.mit.edu	37	22	36681274	36681274	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:36681274G>A	ENST00000216181.5	-	38	5606	c.5376C>T	c.(5374-5376)gtC>gtT	p.V1792V	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1792					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.V1792V(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTGCAGCTTGACCTTAAGCT	0.587000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				26	88					0	0	0.024334	0	0
MALAT1	378938	broad.mit.edu	37	11	65267982	65267982	+	RNA	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65267982G>C	ENST00000534336.1	+	0	2750					NR_002819.2																						GCAGCAGTTCGTGGTGAAGAT	0.493000													18	39					0	0	0.004990	0	0
PSD3	23362	broad.mit.edu	37	8	18729854	18729854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:18729854C>T	ENST00000440756.2	-	3	622	c.520G>A	c.(520-522)Gac>Aac	p.D174N	PSD3_ENST00000523619.1_Missense_Mutation_p.D109N|PSD3_ENST00000327040.8_Missense_Mutation_p.D174N			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	174					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D174N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGGCAGTGTCCAGCTCTTTT	0.443000													21	118					0	0	0.009535	0	0
CYB5R1	51706	broad.mit.edu	37	1	202935922	202935922	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:202935922G>C	ENST00000367249.4	-	2	194	c.120C>G	c.(118-120)ctC>ctG	p.L40L		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	40					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	p.L40L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGGGGTCCAGGAGAGTGACCT	0.632000													5	54					0	0	0.021553	0	0
GPR15	2838	broad.mit.edu	37	3	98251707	98251707	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:98251707C>T	ENST00000284311.3	+	1	965	c.830C>T	c.(829-831)tCa>tTa	p.S277L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	277						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.S277L(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TATTTACCCTCAGCTATTCTT	0.478000													22	143					0	0	0.012319	0	0
MYO1C	4641	broad.mit.edu	37	17	1371362	1371362	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1371362T>C	ENST00000359786.5	-	28	3140	c.2816A>G	c.(2815-2817)cAg>cGg	p.Q939R	MYO1C_ENST00000545534.2_Missense_Mutation_p.Q915R|MYO1C_ENST00000361007.2_Missense_Mutation_p.Q904R|MYO1C_ENST00000575158.1_Missense_Mutation_p.Q904R|MYO1C_ENST00000438665.2_Missense_Mutation_p.Q920R	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	939					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.Q904R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGCAGCAGCTGCCGGGAGCG	0.627000													7	39					0	0	0.008291	0	0
FBXL2	25827	broad.mit.edu	37	3	33400807	33400807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:33400807C>G	ENST00000484457.1	+	4	244	c.153C>G	c.(151-153)aaC>aaG	p.N51K	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000507198.1_Missense_Mutation_p.N51K|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000538892.1_Missense_Mutation_p.N51K|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	51	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	p.N51K(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATGGAAGCAACTGGCAAAGAA	0.378000													9	73					0	0	0.008291	0	0
BTN1A1	696	broad.mit.edu	37	6	26501556	26501556	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26501556C>T	ENST00000244513.6	+	1	108	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	14						extracellular region|integral to plasma membrane	receptor activity	p.L14L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GATGTCTGCTCACCCTCATTC	0.483000													21	67					0	0	0.016522	0	0
SUN3	256979	broad.mit.edu	37	7	48046822	48046822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:48046822C>T	ENST00000453192.2	-	6	639	c.396G>A	c.(394-396)atG>atA	p.M132I	SUN3_ENST00000395572.2_Missense_Mutation_p.M144I|SUN3_ENST00000297325.4_Missense_Mutation_p.M144I|SUN3_ENST00000412142.1_Missense_Mutation_p.M44I	NM_001284350.1	NP_001271279.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	144						integral to membrane		p.M144I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATTATTGTCCATACCATCCT	0.483000													21	70					0	0	0.008871	0	0
EXO1	9156	broad.mit.edu	37	1	242048771	242048771	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:242048771C>G	ENST00000366548.3	+	15	2960	c.2367C>G	c.(2365-2367)atC>atG	p.I789M	EXO1_ENST00000348581.5_Missense_Mutation_p.I789M|EXO1_ENST00000518483.1_Missense_Mutation_p.I789M	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	789	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.I789M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTACAGATCAAACTCAATG	0.428000								Editing and processing nucleases					20	89					0	0	0.016522	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	99					0	0	0.009096	0	0
C12orf52	84934	broad.mit.edu	37	12	113629482	113629482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:113629482C>G	ENST00000548278.1	+	4	1362	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	C12orf52_ENST00000549621.1_Missense_Mutation_p.Q224E|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.Q248E	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	224	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	p.Q224E(1)		large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AAATGGGCCTCAGGATCTCAG	0.617000													10	55					0	0	0.008291	0	0
SF3B2	10992	broad.mit.edu	37	11	65824745	65824745	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65824745C>G	ENST00000528302.1	+	6	679	c.625C>G	c.(625-627)Cca>Gca	p.P209A	SF3B2_ENST00000322535.6_Missense_Mutation_p.P226A			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	226					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.P226A(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGTAGCTGCTCCAGTGGGCCC	0.542000													37	214					0	0	0.011902	0	0
TBC1D29	26083	broad.mit.edu	37	17	28887196	28887196	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:28887196A>G	ENST00000580161.1	+	3	2571	c.74A>G	c.(73-75)gAt>gGt	p.D25G	TBC1D29_ENST00000579181.1_Missense_Mutation_p.D25G|TBC1D29_ENST00000584297.1_Missense_Mutation_p.D25G			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	25	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity	p.D25G(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GTGCTGAATGATGGGGTAAGG	0.627000													5	11					0	0	0.014758	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034629	46034629	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:46034629C>T	ENST00000372070.3	+	8	1530	c.783C>T	c.(781-783)atC>atT	p.I261I	AKR1A1_ENST00000473038.1_3'UTR|AKR1A1_ENST00000351829.4_Silent_p.I261I	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	261					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	p.I261I(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGATCTGCATCCCCAAAAGTA	0.453000													155	114					0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39800966	39800966	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39800966G>C	ENST00000564288.1	+	37	9483	c.8706G>C	c.(8704-8706)atG>atC	p.M2902I	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.M1342I|MACF1_ENST00000372915.3_Missense_Mutation_p.M2907I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.M2939I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2907					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.M1342I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATAACATGGGAAATGATA	0.338000													20	214					0	0	0.008871	0	0
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:131895051G>A	ENST00000265335.6	+	2	592	c.205G>A	c.(205-207)Gat>Aat	p.D69N	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	69					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.D69Y(1)|p.D69N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.284000								Homologous recombination					22	81					0	0	0.012319	0	0
HECTD4	283450	broad.mit.edu	37	12	112608964	112608964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:112608964G>A	ENST00000550722.1	-	68	11846	c.11451C>T	c.(11449-11451)ccC>ccT	p.P3817P	HECTD4_ENST00000377560.5_Silent_p.P3791P|HECTD4_ENST00000430131.2_Silent_p.P3541P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.P3541P(1)|p.P3791P(1)									GGGTATACATGGGTGTCTGGC	0.632000													5	17					0	0	0.021553	0	0
MSL2	55167	broad.mit.edu	37	3	135913931	135913931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:135913931G>A	ENST00000309993.2	-	1	757	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	9					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.L9F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAAATGTAGAGAGCAGTAGCA	0.527000													99	199					0	0	0.014410	0	0
RIF1	55183	broad.mit.edu	37	2	152293454	152293454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:152293454C>T	ENST00000243326.5	+	11	1792	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	RIF1_ENST00000428287.2_Missense_Mutation_p.H437Y|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.H437Y|RIF1_ENST00000453091.2_Missense_Mutation_p.H437Y|RIF1_ENST00000430328.2_Missense_Mutation_p.H437Y			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.H437Y(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGTTGCTTCATTTCTTGTT	0.398000													14	54					0	0	0.024245	0	0
TTC3	7267	broad.mit.edu	37	21	38519889	38519889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:38519889G>A	ENST00000399017.2	+	22	4749	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	TTC3_ENST00000354749.2_Missense_Mutation_p.D668N|TTC3_ENST00000355666.1_Missense_Mutation_p.D668N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.D358N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	668					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D668N(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATACATAACTGATCCAGACTT	0.378000													58	179					0	0	0.014410	0	0
MGAT4B	11282	broad.mit.edu	37	5	179229052	179229052	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:179229052G>A	ENST00000337755.5	-	1	946	c.60C>T	c.(58-60)ccC>ccT	p.P20P	MGAT4B_ENST00000292591.7_Intron|MGAT4B_ENST00000521305.1_Intron	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	0					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.P20P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACACATCTGGGTGTCCACC	0.562000											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	98					0	0	0.021523	0	0
BRD7	29117	broad.mit.edu	37	16	50383964	50383964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50383964G>A	ENST00000394688.3	-	5	720	c.561C>T	c.(559-561)aaC>aaT	p.N187N	BRD7_ENST00000394689.2_Silent_p.N187N|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	187	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N187N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GATAGTCATTGTTCTTGATCT	0.343000													86	121					0	0	0.014410	0	0
ACAP1	9744	broad.mit.edu	37	17	7250445	7250445	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7250445C>T	ENST00000158762.3	+	14	1433	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	409	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.A409A(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						ACGTGGTGGCCCAGGTCCAGA	0.667000													9	48					0	0	0.006214	0	0
LPGAT1	9926	broad.mit.edu	37	1	211966441	211966441	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:211966441C>T	ENST00000366997.4	-	3	556	c.330G>A	c.(328-330)ctG>ctA	p.L110L	LPGAT1_ENST00000366996.1_Silent_p.L110L	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	110					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.L110L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GGCACATCATCAGTGTGCACA	0.448000													123	283					0	0	0.014410	0	0
E2F2	1870	broad.mit.edu	37	1	23848342	23848342	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:23848342T>C	ENST00000361729.2	-	3	991	c.565A>G	c.(565-567)Aac>Gac	p.N189D		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	189					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N189D(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CACTGGATGTTGTTCTTGGCC	0.602000													11	89					0	0	0.010729	0	0
SACS	26278	broad.mit.edu	37	13	23905173	23905173	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23905173G>C	ENST00000382298.3	-	10	13430	c.12842C>G	c.(12841-12843)tCt>tGt	p.S4281C	SACS_ENST00000382292.3_Missense_Mutation_p.S4281C|SACS_ENST00000402364.1_Missense_Mutation_p.S3531C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4281					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.S4134C(1)|p.S4281C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCTCTACCAGAGAAAAGAGG	0.478000													29	84					0	0	0.007291	0	0
BTAF1	9044	broad.mit.edu	37	10	93719635	93719635	+	Missense_Mutation	SNP	G	G	A	rs112687582		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:93719635G>A	ENST00000265990.6	+	10	1392	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	362					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.E362K(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGTTTCTGATGAAGTAAGTAT	0.348000													41	80					0	0	0.007835	0	0
HMCN1	83872	broad.mit.edu	37	1	186044020	186044020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:186044020C>G	ENST00000271588.4	+	53	8516	c.8287C>G	c.(8287-8289)Caa>Gaa	p.Q2763E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2763E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2763	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q2763E(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGAATATTCAAGGTAATAC	0.294000													20	91					0	0	0.014323	0	0
EPHA8	2046	broad.mit.edu	37	1	22924702	22924702	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:22924702G>C	ENST00000166244.3	+	12	2247	c.2175G>C	c.(2173-2175)ctG>ctC	p.L725L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	725	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.L725L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACACCTTCCTGAGGGTGCGTG	0.627000													23	121					0	0	0.027356	0	0
OR51A7	119687	broad.mit.edu	37	11	4928821	4928821	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:4928821C>T	ENST00000359350.4	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCCTGTCCCTCTCCTCCC	0.458000													7	176					0	0	0.006320	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128910840	128910840	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:128910840T>C	ENST00000310343.9	-	10	985	c.986A>G	c.(985-987)aAc>aGc	p.N329S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N255S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	329					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.N329S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGCACTGAGTTGGTCACTGA	0.398000													5	17					0	0	0.014758	0	0
RBBP4	5928	broad.mit.edu	37	1	33138430	33138430	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:33138430C>T	ENST00000373493.5	+	11	1299	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	RBBP4_ENST00000544435.1_Silent_p.F128F|RBBP4_ENST00000373485.1_Silent_p.F380F|RBBP4_ENST00000414241.3_Silent_p.F379F|RBBP4_ENST00000458695.2_Silent_p.F345F	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	380					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	p.F380F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TATCTGATTTCTCCTGGAATC	0.373000													16	96					0	0	0.004990	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99023225	99023225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:99023225C>T	ENST00000453547.2	-	4	564	c.565G>A	c.(565-567)Gag>Aag	p.E189K	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.E180K|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.E189K|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.E189K|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.E180K|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.E189K														p.E8K(1)|p.E189K(1)									AGCAGAGGCTCCGGCAACTCT	0.403000													58	169					0	0	0.014410	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102514870	102514870	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:102514870C>T	ENST00000360184.4	+	74	13400	c.13236C>T	c.(13234-13236)ttC>ttT	p.F4412F	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4412					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.F4412F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTTCAGGTTCTTTGAGAGAG	0.483000													9	37					0	0	0.006214	0	0
CREBBP	1387	broad.mit.edu	37	16	3807965	3807965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:3807965G>A	ENST00000262367.5	-	18	4263	c.3454C>T	c.(3454-3456)Cag>Tag	p.Q1152*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1114*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1152	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q1152*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCACGTACTGCCAGGGCTCT	0.458000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	65					0	0	0.028581	0	0
ADCY7	113	broad.mit.edu	37	16	50339739	50339739	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50339739G>A	ENST00000394697.2	+	14	2071	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	ADCY7_ENST00000254235.3_Silent_p.L577L|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.L577L|ADCY7_ENST00000566433.2_Silent_p.L577L			P51828	ADCY7_HUMAN	adenylate cyclase 7	577					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.L577L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCATCTTCCTGGAGAAGGGCT	0.672000													30	44					0	0	0.010818	0	0
KCNC2	3747	broad.mit.edu	37	12	75437006	75437006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:75437006C>T	ENST00000549446.1	-	5	2476	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	KCNC2_ENST00000540018.1_Missense_Mutation_p.R544Q|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000341669.3_Intron|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	599					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R599Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTTTAAGCTTCGGGATTTTTC	0.433000													12	72					0	0	0.016723	0	0
NDUFA5	4698	broad.mit.edu	37	7	123197496	123197496	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:123197496C>T	ENST00000471770.1	-	2	162	c.28G>A	c.(28-30)Ggc>Agc	p.G10S	NDUFA5_ENST00000355749.2_Missense_Mutation_p.G10S|NDUFA5_ENST00000467117.1_5'UTR	NM_001282419.1|NM_001282420.1|NM_001282421.1	NP_001269348.1|NP_001269349.1|NP_001269350.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	10					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.G10S(1)		large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	CCCACAAGGCCAGTGGTCTGT	0.438000													12	44					0	0	0.010729	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934364	68934364	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:68934364G>A	ENST00000356291.2	-	7	786	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	243	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L243L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCTGTGAGCAGCCATGTGTTA	0.527000													9	76					0	0	0.008291	0	0
CCDC13	152206	broad.mit.edu	37	3	42777313	42777313	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:42777313C>T	ENST00000310232.6	-	10	1340	c.1257G>A	c.(1255-1257)ctG>ctA	p.L419L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	419								p.L419L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCTCGCTGTTCAGTTGCTGGT	0.622000													22	63					0	0	0.010504	0	0
SEMA4A	64218	broad.mit.edu	37	1	156127890	156127890	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156127890G>C	ENST00000368285.3	+	4	597	c.330G>C	c.(328-330)aaG>aaC	p.K110N	SEMA4A_ENST00000368282.1_Missense_Mutation_p.K110N|SEMA4A_ENST00000368284.1_Missense_Mutation_p.K11N|SEMA4A_ENST00000355014.2_Missense_Mutation_p.K110N|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.K11N	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	110	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.K110N(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ACAGAAAAAAGAGTGAATGTG	0.522000													9	37					0	0	0.010729	0	0
SLC37A2	219855	broad.mit.edu	37	11	124949113	124949113	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:124949113C>T	ENST00000403796.2	+	5	721	c.420C>T	c.(418-420)atC>atT	p.I140I	SLC37A2_ENST00000298280.5_Silent_p.I140I|SLC37A2_ENST00000407458.1_Silent_p.I140I|SLC37A2_ENST00000308074.4_Silent_p.I140I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	140					carbohydrate transport|transmembrane transport	integral to membrane		p.I140I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCTGGAACATCCACGAGCTCT	0.557000													29	133					0	0	0.007291	0	0
CCR3	1232	broad.mit.edu	37	3	46307616	46307616	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:46307616C>T	ENST00000357422.2	+	4	1510	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	CCR3_ENST00000541018.1_Missense_Mutation_p.H323Y|CCR3_ENST00000395942.2_Missense_Mutation_p.H323Y|CCR3_ENST00000395940.2_Missense_Mutation_p.H323Y|CCR3_ENST00000545097.1_Missense_Mutation_p.H344Y			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	323					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		p.H323Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTTGCTCATGCACCTGGGCAG	0.532000													29	56					0	0	0.006320	0	0
PRF1	5551	broad.mit.edu	37	10	72358051	72358051	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:72358051C>T	ENST00000441259.1	-	3	1586	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	PRF1_ENST00000373209.2_Missense_Mutation_p.G476R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	476	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G476R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCAGGGGCCCCCCTGTGGCC	0.607000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				29	82					0	0	0.008361	0	0
PLOD2	5352	broad.mit.edu	37	3	145804623	145804623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:145804623C>A	ENST00000282903.5	-	10	1255	c.1078G>T	c.(1078-1080)Gta>Tta	p.V360L	PLOD2_ENST00000360060.3_Missense_Mutation_p.V360L|PLOD2_ENST00000494950.1_Missense_Mutation_p.V305L|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	360					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.V360L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTGGTCCTACTATTTTTATA	0.254000													7	23					0.00198382	0.00200864	0.001984	1	0
OR6N2	81442	broad.mit.edu	37	1	158747226	158747226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:158747226G>A	ENST00000339258.1	-	1	199	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67F(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CTCCAAGAAGGAAAGAACACT	0.443000													28	211					0	0	0.027356	0	0
KCNH7	90134	broad.mit.edu	37	2	163236516	163236516	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:163236516C>T	ENST00000332142.5	-	14	3077	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	993					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R993Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCCCAGCTTCGCATGTCAGT	0.488000													77	87					0	0	0.014410	0	0
PMS2	5395	broad.mit.edu	37	7	6027006	6027006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:6027006C>T	ENST00000265849.7	-	11	1495	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.D464N|PMS2_ENST00000441476.2_Missense_Mutation_p.D358N|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	464					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.D464N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACGCCTTTGTCAGAGATGGCA	0.562000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				45	111					0	0	0.008740	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883236	43883236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:43883236C>T	ENST00000443950.2	-	3	583	c.97G>A	c.(97-99)Gac>Aac	p.D33N	HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000356053.3_Missense_Mutation_p.D33N|HNRNPF_ENST00000337970.3_Missense_Mutation_p.D33N|HNRNPF_ENST00000544000.1_Missense_Mutation_p.D33N|HNRNPF_ENST00000357065.4_Missense_Mutation_p.D33N	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	33	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.D33N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATCGTGCAGTCAGAGAGGAAG	0.552000													20	79					0	0	0.007413	0	0
MTMR12	54545	broad.mit.edu	37	5	32233926	32233926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:32233926C>A	ENST00000382142.3	-	15	1797	c.1627G>T	c.(1627-1629)Gaa>Taa	p.E543*	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Intron|MTMR12_ENST00000264934.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	543	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.E543*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGGCTTTTCCACATAAAGA	0.493000													52	126					1.60974e-12	1.68351e-12	0.014410	1	0
MTG1	92170	broad.mit.edu	37	10	135213089	135213089	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:135213089C>T	ENST00000468317.2	+	7	747	c.492C>T	c.(490-492)ctC>ctT	p.L164L	MTG1_ENST00000317502.6_Silent_p.L159L|MTG1_ENST00000477902.2_Silent_p.L118L														p.L159L(1)									AGTCCTCCCTCATCAACTCCC	0.622000													27	55					0	0	0.027356	0	0
C15orf52	388115	broad.mit.edu	37	15	40633137	40633137	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:40633137C>T	ENST00000559313.1	-	1	31	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	6								p.E6K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTCGCTGCTCAGCACACGAG	0.647000													3	14					0	0	0.009096	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284430	33284430	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33284430G>C	ENST00000431845.2	-	2	415	c.264C>G	c.(262-264)ctC>ctG	p.L88L	ZBTB22_ENST00000418724.1_Silent_p.L88L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	88	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L88L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TCATGCCTTTGAGTAGGACCT	0.602000													24	155					0	0	0.024334	0	0
PSD4	23550	broad.mit.edu	37	2	113941019	113941019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:113941019C>G	ENST00000441564.3	+	2	1155	c.986C>G	c.(985-987)tCc>tGc	p.S329C	PSD4_ENST00000245796.6_Missense_Mutation_p.S329C			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.S329C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACACTCCATCTGCTGG	0.617000													6	44					0	0	0.001984	0	0
SYTL2	54843	broad.mit.edu	37	11	85437234	85437234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:85437234G>A	ENST00000359152.5	-	1	1837	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	SYTL2_ENST00000525423.1_Missense_Mutation_p.S89L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S89L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	137	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.S89L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TATGCCCTTTGAATTTAATTT	0.378000													48	301					0	0	0.014410	0	0
UPF1	5976	broad.mit.edu	37	19	18963840	18963840	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:18963840G>A	ENST00000262803.5	+	7	1289	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	UPF1_ENST00000599848.1_Silent_p.K339K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	339	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.K339K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCTTAACAAGAAGAGAATCG	0.453000													54	101					0	0	0.014410	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444186	5444186	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:5444186C>G	ENST00000300778.4	+	1	846	c.756C>G	c.(754-756)gtC>gtG	p.V252V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V252V(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCCTGGTCCTCTACATTC	0.502000													16	110					0	0	0.006122	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745294	140745294	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140745294C>A	ENST00000518069.1	+	1	1397	c.1397C>A	c.(1396-1398)cCc>cAc	p.P466H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.P466H(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAATCCCAGAGGTGTC	0.532000													5	115					0.014758	0.014875	0.014758	1	0
CHD6	84181	broad.mit.edu	37	20	40065975	40065975	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:40065975C>T	ENST00000373233.3	-	27	4185		c.e27-1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.?(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGTTGCCTCTAAATAAAAG	0.398000													41	84					0	0	0.025465	0	0
ITSN1	6453	broad.mit.edu	37	21	35153820	35153820	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:35153820A>G	ENST00000381318.3	+	15	1940	c.1652A>G	c.(1651-1653)cAa>cGa	p.Q551R	ITSN1_ENST00000437442.2_Missense_Mutation_p.Q551R|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q551R|ITSN1_ENST00000399355.2_Missense_Mutation_p.Q551R|ITSN1_ENST00000399326.3_Missense_Mutation_p.Q551R|ITSN1_ENST00000381291.4_Missense_Mutation_p.Q551R|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q551R|ITSN1_ENST00000399353.1_Missense_Mutation_p.Q514R|ITSN1_ENST00000399338.4_Missense_Mutation_p.Q551R|ITSN1_ENST00000379960.5_Missense_Mutation_p.Q551R|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.Q551R|ITSN1_ENST00000399352.1_Missense_Mutation_p.Q551R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	551	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.Q551R(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCAATGACCAATTAAAACAA	0.358000													15	122					0	0	0.006122	0	0
FLG	2312	broad.mit.edu	37	1	152281379	152281379	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152281379C>G	ENST00000368799.1	-	3	6018	c.5983G>C	c.(5983-5985)Gaa>Caa	p.E1995Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1995	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E1995Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTGTTCATGGGATGAC	0.567000									Ichthyosis				148	1185					0	0	0.014410	0	0
MIR155HG	114614	broad.mit.edu	37	21	26946337	26946337	+	RNA	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:26946337C>T	ENST00000385060.1	+	0	46					NR_030784.1																						CAACTGACTCCTACATATTAG	0.438000													32	40					0	0	0.009535	0	0
DCC	1630	broad.mit.edu	37	18	50977029	50977029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:50977029G>C	ENST00000442544.2	+	23	4005	c.3389G>C	c.(3388-3390)aGa>aCa	p.R1130T	DCC_ENST00000581580.1_Missense_Mutation_p.R765T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1130					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R1130T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCAGCAGAGAAAGTAGGTA	0.473000													5	32					0	0	0.021553	0	0
PSMC4	5704	broad.mit.edu	37	19	40480725	40480725	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:40480725T>C	ENST00000157812.2	+	6	861	c.663T>C	c.(661-663)caT>caC	p.H221H	PSMC4_ENST00000455878.2_Silent_p.H190H	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.H221H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGGTGGCACATCACACAACAG	0.597000													8	29					0	0	0.006214	0	0
IDE	3416	broad.mit.edu	37	10	94267358	94267358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:94267358G>C	ENST00000265986.6	-	9	1275	c.1219C>G	c.(1219-1221)Caa>Gaa	p.Q407E		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	407					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	p.Q407E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCCATTCTTGAGGTCCTTCT	0.328000													33	172					0	0	0.013726	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489744	74489744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:74489744G>A	ENST00000333421.6	-	2	364	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	ABHD17B_ENST00000377041.2_Missense_Mutation_p.R85C	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B									p.R85C(1)									GGTGAACAACGTACAAACATA	0.398000													5	175					0	0	0.014758	0	0
CD55	1604	broad.mit.edu	37	1	207495889	207495889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207495889C>T	ENST00000367064.3	+	2	521	c.263C>T	c.(262-264)tCa>tTa	p.S88L	CD55_ENST00000367063.2_Missense_Mutation_p.S88L|CD55_ENST00000367067.4_Missense_Mutation_p.S88L|CD55_ENST00000367065.5_Missense_Mutation_p.S88L|CD55_ENST00000367062.4_Missense_Mutation_p.S88L|CD55_ENST00000391920.4_Missense_Mutation_p.S88L|CD55_ENST00000391921.4_Missense_Mutation_p.S88L|CD55_ENST00000314754.8_Missense_Mutation_p.S88L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	88	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	p.S88L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGTCAATGGTCAGATATTGAA	0.363000													35	79					0	0	0.021022	0	0
USP12	219333	broad.mit.edu	37	13	27645266	27645266	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:27645266T>C	ENST00000282344.6	-	8	1209	c.953A>G	c.(952-954)tAt>tGt	p.Y318C		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	318					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Y318C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TATTGCAATATAATGGCCTCG	0.274000													12	68					0	0	0.016723	0	0
ARAP2	116984	broad.mit.edu	37	4	36212232	36212232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:36212232G>A	ENST00000303965.4	-	6	1756	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	423					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.Q423*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTAAACTCTGAAAGCATTCT	0.368000													54	199					0	0	0.014410	0	0
SMG7	9887	broad.mit.edu	37	1	183518386	183518386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:183518386C>T	ENST00000367537.3	+	20	3080	c.2885C>T	c.(2884-2886)tCc>tTc	p.S962F	SMG7_ENST00000507469.1_Missense_Mutation_p.S933F|SMG7_ENST00000515829.2_Missense_Mutation_p.S883F|SMG7_ENST00000508461.1_Missense_Mutation_p.S937F|SMG7_ENST00000456731.2_Missense_Mutation_p.S841F|SMG7_ENST00000347615.2_Missense_Mutation_p.S929F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	929	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.S929F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCACATTCATCCTCTTTCCTG	0.388000													35	78					0	0	0.023175	0	0
AP3S2	10239	broad.mit.edu	37	15	90431850	90431850	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:90431850G>A	ENST00000336418.4	-	3	568	c.176C>T	c.(175-177)tCt>tTt	p.S59F	C15orf38-AP3S2_ENST00000560224.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.S260F|AP3S2_ENST00000560940.1_Missense_Mutation_p.S59F|AP3S2_ENST00000558011.1_Missense_Mutation_p.S59F	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit									p.S59F(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTTGTAGTCAGAGCCACCAAT	0.418000													3	35					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179464127	179464127	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179464127G>A	ENST00000589042.1	-	290	56617	c.56393C>T	c.(56392-56394)tCa>tTa	p.S18798L	TTN_ENST00000342992.6_Missense_Mutation_p.S16230L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9858L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9733L|TTN_ENST00000342175.6_Missense_Mutation_p.S9925L|TTN_ENST00000591111.1_Missense_Mutation_p.S17157L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17157	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S16230L(1)|p.S16228L(1)|p.S9858L(1)|p.S9925L(1)|p.S9733L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCTGCTGAAACAGATTC	0.383000													20	58					0	0	0.012319	0	0
C7orf60	154743	broad.mit.edu	37	7	112579712	112579712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:112579712C>T	ENST00000297145.4	-	1	259	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	32								p.E32K(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTCTCCTGCTCCAGTTTCCGC	0.667000													7	28					0	0	0.001984	0	0
PGAP1	80055	broad.mit.edu	37	2	197791211	197791211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:197791211C>T	ENST00000354764.4	-	1	244	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.E44K|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	p.E44K(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCGGGTACTCAAACATGTAG	0.547000													179	145					0	0	0.014410	0	0
CHERP	10523	broad.mit.edu	37	19	16640540	16640540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16640540C>T	ENST00000546361.2	-	8	1199	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	CHERP_ENST00000198939.6_Missense_Mutation_p.E361K|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	350					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.E350K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCCTTGACTTCAGCCTCCATC	0.682000													6	4					0	0	0.003080	0	0
RPL31	6160	broad.mit.edu	37	2	101622467	101622467	+	Missense_Mutation	SNP	G	G	A	rs11551487		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622467G>A	ENST00000264258.3	+	4	881	c.280G>A	c.(280-282)Gag>Aag	p.E94K	RPL31_ENST00000409650.1_Missense_Mutation_p.E94K|RPL31_ENST00000409028.4_Missense_Mutation_p.E94K|RPL31_ENST00000409733.1_Missense_Mutation_p.E94K|RPL31_ENST00000409320.3_Missense_Mutation_p.E94K|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409038.1_Missense_Mutation_p.E94K	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	94					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.E94K(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AAAACGTAATGAGGATGAAGA	0.388000													7	68					0	0	0.024245	0	0
GREB1	9687	broad.mit.edu	37	2	11774306	11774306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:11774306C>T	ENST00000381486.2	+	29	5341	c.5041C>T	c.(5041-5043)Cac>Tac	p.H1681Y	GREB1_ENST00000396123.1_Missense_Mutation_p.H679Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H1681Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1681						integral to membrane		p.H1681Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATCATGCAGCACATCGAGGC	0.622000													17	111					0	0	0.006122	0	0
ANAPC1	64682	broad.mit.edu	37	2	112592358	112592358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112592358G>A	ENST00000341068.3	-	19	2979	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	736					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.S736L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTTCATCTGTGAAGCTTCTGA	0.383000													16	70					0	0	0.028581	0	0
OR51A7	119687	broad.mit.edu	37	11	4928822	4928822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:4928822C>T	ENST00000359350.4	+	1	223	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCCTGTCCCTCTCCTCCCT	0.458000													6	177					0	0	0.027356	0	0
PMS2P4	5382	broad.mit.edu	37	7	66760818	66760818	+	RNA	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:66760818C>T	ENST00000414507.1	-	0	271																											GTGGTGTGTTCAGTGAGAGAC	0.458000													20	117					0	0	0.021523	0	0
PRDM16	63976	broad.mit.edu	37	1	3319489	3319489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:3319489G>C	ENST00000378398.3	+	7	896	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	PRDM16_ENST00000378391.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.E271Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	271					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.E271Q(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCAAGCCCGAGGGCCTTGG	0.637000			T	EVI1	"""MDS, AML"""								15	55					0	0	0.007413	0	0
FANCI	55215	broad.mit.edu	37	15	89834895	89834895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:89834895G>C	ENST00000310775.7	+	20	2028	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q	FANCI_ENST00000300027.8_Missense_Mutation_p.E648Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	648					cell cycle|DNA repair	nucleoplasm	protein binding	p.E648Q(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTGAAATTAGAAGCTTGTAT	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				38	161					0	0	0.008740	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126049	19126049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:19126049C>T	ENST00000381440.3	+	1	796	c.266C>T	c.(265-267)tCg>tTg	p.S89L	CTD-2349B8.1_ENST00000564808.2_Silent_p.L70L	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	89						integral to membrane		p.S89L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTTCTCCTCGAGACACTTC	0.662000													5	14					0	0	0.021553	0	0
HERC1	8925	broad.mit.edu	37	15	63984612	63984612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:63984612G>A	ENST00000443617.2	-	31	5915	c.5828C>T	c.(5827-5829)tCa>tTa	p.S1943L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1943					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.S1943L(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATGTACCTGAAGAACATTT	0.358000													18	88					0	0	0.007413	0	0
TIAF1	9220	broad.mit.edu	37	17	27401192	27401192	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27401192C>G	ENST00000359450.6	-	1	4683	c.26G>C	c.(25-27)aGa>aCa	p.R9T	MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R9T|MYO18A_ENST00000529578.1_5'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	9					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		p.R9T(1)		kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGACTGCTCTCTGAAGGGTGA	0.597000													7	45					0	0	0.003080	0	0
HELZ2	85441	broad.mit.edu	37	20	62195447	62195447	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:62195447C>T	ENST00000467148.1	-	8	4797	c.4728G>A	c.(4726-4728)ctG>ctA	p.L1576L	HELZ2_ENST00000427522.2_Silent_p.L1007L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.L1576L(1)									GGTGCAGTGACAGGGGCACCC	0.711000													10	16					0	0	0.010729	0	0
BMPER	168667	broad.mit.edu	37	7	34125385	34125385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:34125385G>C	ENST00000297161.2	+	14	1800	c.1426G>C	c.(1426-1428)Gat>Cat	p.D476H	BMPER_ENST00000426693.1_Missense_Mutation_p.D476H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	476	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.D476H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AATATCTTGGGATGGAGACAG	0.423000													8	47					0	0	0.003080	0	0
EPHA7	2045	broad.mit.edu	37	6	94068097	94068097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:94068097G>A	ENST00000369303.4	-	4	1049	c.865C>T	c.(865-867)Caa>Taa	p.Q289*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	289	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q289*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGAAGATCTTGAGAGGAAGAC	0.413000													11	25					0	0	0.013537	0	0
ARID5A	10865	broad.mit.edu	37	2	97217382	97217382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:97217382G>C	ENST00000454558.2	+	7	2090	c.913G>C	c.(913-915)Ggg>Cgg	p.G305R	ARID5A_ENST00000357485.3_Missense_Mutation_p.G373R			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	373					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.G373R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGTGCTATTGGGGCCTCCTGG	0.587000													8	22					0	0	0.004482	0	0
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:130785628G>A	ENST00000265909.4	-	1	776	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602000													8	37					0	0	0.013537	0	0
ZNF555	148254	broad.mit.edu	37	19	2853251	2853251	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:2853251T>A	ENST00000334241.4	+	4	1326	c.1188T>A	c.(1186-1188)taT>taA	p.Y396*	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Nonsense_Mutation_p.Y395*	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y396*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACCCTATGAATGCAACC	0.498000													10	64					0	0	0.006214	0	0
FAM83E	54854	broad.mit.edu	37	19	49116416	49116416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49116416C>T	ENST00000263266.3	-	1	403	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	72								p.E72K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCAGTCTTCAGCTGCCGCT	0.672000													15	8					0	0	0.006122	0	0
DENND2D	79961	broad.mit.edu	37	1	111730906	111730906	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:111730906G>A	ENST00000357640.4	-	11	1415	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	DENND2D_ENST00000369752.5_Missense_Mutation_p.R393W	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	396	dDENN.							p.R396W(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTTGCCTCCCGCTTGATATAG	0.473000													26	114					0	0	0.024334	0	0
TNS3	64759	broad.mit.edu	37	7	47467943	47467943	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:47467943G>A	ENST00000398879.1	-	9	722	c.356C>T	c.(355-357)tCa>tTa	p.S119L	TNS3_ENST00000355730.3_Missense_Mutation_p.S119L|TNS3_ENST00000311160.9_Missense_Mutation_p.S119L|TNS3_ENST00000442536.2_Missense_Mutation_p.S119L|TNS3_ENST00000458317.2_Missense_Mutation_p.S119L			Q68CZ2	TENS3_HUMAN	tensin 3	119	Phosphatase tensin-type.					focal adhesion	protein binding	p.S119L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATGTAGGATGATATGACCAC	0.493000													25	93					0	0	0.006320	0	0
MMP16	4325	broad.mit.edu	37	8	89179976	89179976	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:89179976A>G	ENST00000286614.6	-	4	912	c.631T>C	c.(631-633)Ttc>Ctc	p.F211L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	211					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.F211L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGTCCAGGGAAGTAGGCATGT	0.438000													19	102					0	0	0.008871	0	0
SPAST	6683	broad.mit.edu	37	2	32289086	32289086	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32289086G>C	ENST00000315285.3	+	1	311	c.186G>C	c.(184-186)gcG>gcC	p.A62A	SPAST_ENST00000345662.1_Silent_p.A62A	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	62	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	p.A62A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGGCTTCGCGCTGCTGCGTT	0.697000													7	15					0	0	0.003080	0	0
ENPEP	2028	broad.mit.edu	37	4	111397820	111397820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:111397820G>A	ENST00000265162.5	+	1	592	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	84					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.E84K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGTGAGGATGAGAGCGGACA	0.637000													26	51					0	0	0.021523	0	0
COG2	22796	broad.mit.edu	37	1	230819378	230819378	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:230819378C>T	ENST00000534989.1	+	11	1383	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S	COG2_ENST00000535166.1_Missense_Mutation_p.P293S|COG2_ENST00000366669.4_Missense_Mutation_p.P409S|COG2_ENST00000546013.1_Missense_Mutation_p.P98S|COG2_ENST00000366668.3_Missense_Mutation_p.P409S			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	409					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.P409S(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAAGATGCCCCAGGTAACTC	0.393000													42	91					0	0	0.013114	0	0
MYT1	4661	broad.mit.edu	37	20	62838960	62838960	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:62838960C>G	ENST00000536311.1	+	7	775	c.411C>G	c.(409-411)gtC>gtG	p.V137V	MYT1_ENST00000328439.1_Silent_p.V137V|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	137					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V137V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCCCCGTCAAGTCCCATT	0.582000													18	117					0	0	0.008871	0	0
BEST3	144453	broad.mit.edu	37	12	70088210	70088210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:70088210C>G	ENST00000330891.5	-	3	413	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.E63Q|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	63						chloride channel complex|plasma membrane	chloride channel activity	p.E63Q(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GATAATTTTTCAAAGTAACGT	0.378000													8	41					0	0	0.003080	0	0
SOX30	11063	broad.mit.edu	37	5	157078609	157078609	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:157078609G>A	ENST00000265007.6	-	1	819	c.478C>T	c.(478-480)Cct>Tct	p.P160S	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P160S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	160					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.P160S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGCTCTAGGACCGGTTTCG	0.677000													5	27					0	0	0.021553	0	0
KIF3C	3797	broad.mit.edu	37	2	26204414	26204414	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:26204414C>T	ENST00000264712.3	-	1	952	c.373G>A	c.(373-375)Gag>Aag	p.E125K	KIF3C_ENST00000405914.1_Missense_Mutation_p.E125K	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	125	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.E125K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATGTGCTCAAAGGCATTC	0.592000													19	114					0	0	0.006122	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85547824	85547824	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:85547824T>C	ENST00000393217.2	+	23	4733	c.4672T>C	c.(4672-4674)Ttg>Ctg	p.L1558L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1558								p.L1558L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAGCAAATGTTGAAGAGGGC	0.289000													9	28					0	0	0.008291	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967407	41967407	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:41967407C>T	ENST00000298919.7	+	10	2434	c.2046C>T	c.(2044-2046)agC>agT	p.S682S	PDZRN4_ENST00000402685.2_Silent_p.S942S|PDZRN4_ENST00000539469.2_Silent_p.S684S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	942							ubiquitin-protein ligase activity|zinc ion binding	p.S942S(1)|p.S684S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTACTGGAGCAAAGAGGAGA	0.542000													17	41					0	0	0.004990	0	0
RTTN	25914	broad.mit.edu	37	18	67871418	67871418	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:67871418G>C	ENST00000255674.6	-	3	587	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	RTTN_ENST00000437017.1_Missense_Mutation_p.L101V|RTTN_ENST00000454359.1_Missense_Mutation_p.L101V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	101							binding	p.L101V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCAGCCTGCAGATTTGGCTCC	0.433000													19	134					0	0	0.007413	0	0
COL6A3	1293	broad.mit.edu	37	2	238266512	238266512	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:238266512T>A	ENST00000295550.4	-	22	6937	c.6485A>T	c.(6484-6486)cAa>cTa	p.Q2162L	COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1961L|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q1555L|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1956L|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1956L|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1962L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2162	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.Q2162L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGCTGTCTTGTCCTGGGTT	0.527000													166	123					0	0	0.014410	0	0
NEK8	284086	broad.mit.edu	37	17	27068520	27068520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27068520G>A	ENST00000268766.6	+	14	2015	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	661						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.D672N(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGTGCAGTTGGATGAGACACA	0.567000													15	64					0	0	0.020292	0	0
PIWIL4	143689	broad.mit.edu	37	11	94340677	94340677	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:94340677C>T	ENST00000299001.6	+	14	1922	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	571	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.P571S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTCAGACTGCCCAGTCCCAAG	0.423000													26	48					0	0	0.027356	0	0
ANKAR	150709	broad.mit.edu	37	2	190559783	190559783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:190559783G>A	ENST00000520309.1	+	6	1472	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	ANKAR_ENST00000281412.6_Missense_Mutation_p.E226K|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.E462K|ANKAR_ENST00000431575.2_Missense_Mutation_p.E391K|ANKAR_ENST00000438402.2_Missense_Mutation_p.E462K	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	462						integral to membrane	binding	p.E462K(1)|p.E391K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGCCATAAATGAAATAGTGAA	0.318000													33	31					0	0	0.023175	0	0
PAK3	5063	broad.mit.edu	37	X	110395674	110395674	+	Splice_Site	SNP	C	C	T	rs139949467		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:110395674C>T	ENST00000372007.5	+	8	858	c.467C>T	c.(466-468)tCg>tTg	p.S156L	PAK3_ENST00000417227.1_Splice_Site_p.S177L|PAK3_ENST00000372010.1_Splice_Site_p.S171L|PAK3_ENST00000518291.1_Splice_Site_p.S192L|PAK3_ENST00000446737.1_Splice_Site_p.S156L|PAK3_ENST00000519681.1_Splice_Site_p.S177L|PAK3_ENST00000262836.4_Splice_Site_p.S171L|PAK3_ENST00000360648.4_Splice_Site_p.S192L|PAK3_ENST00000425146.1_Splice_Site_p.S156L	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.S192L(1)|p.S156L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCCCATCCTTCGGTAAGTGAA	0.338000										TSP Lung(19;0.15)			17	57					0	0	0.006122	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282830	105282830	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:105282830G>A	ENST00000258538.3	-	4	988	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	287						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	p.F287F(1)|p.F204F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GAGATGCAATGAAGGCAGTTG	0.353000													59	154					0	0	0.014410	0	0
CLDN4	1364	broad.mit.edu	37	7	73246019	73246019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:73246019C>T	ENST00000435050.1	+	2	3168	c.488C>T	c.(487-489)tCg>tTg	p.S163L	CLDN4_ENST00000340958.2_Missense_Mutation_p.S163L|CLDN4_ENST00000431918.1_Missense_Mutation_p.S163L			O14493	CLD4_HUMAN	claudin 4	163					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	p.S163L(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATGGGTGCCTCGCTCTACGTC	0.637000													7	28					0	0	0.006214	0	0
HIP1R	9026	broad.mit.edu	37	12	123342655	123342655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:123342655C>G	ENST00000253083.4	+	19	1947	c.1822C>G	c.(1822-1824)Cag>Gag	p.Q608E		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	608					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	p.Q608E(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAGGAGTCTCAGGAGCAGGG	0.652000													11	91					0	0	0.004990	0	0
CD226	10666	broad.mit.edu	37	18	67562996	67562996	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:67562996T>C	ENST00000280200.4	-	4	936	c.668A>G	c.(667-669)tAc>tGc	p.Y223C	CD226_ENST00000581982.1_Missense_Mutation_p.Y68C|CD226_ENST00000577287.1_Missense_Mutation_p.Y68C|CD226_ENST00000582621.1_Missense_Mutation_p.Y223C	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	223	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.Y223C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GGCCTGCAAGTAGCAGCGGTA	0.522000													24	141					0	0	0.018920	0	0
ESRP1	54845	broad.mit.edu	37	8	95653664	95653664	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:95653664C>T	ENST00000433389.2	+	1	308	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	ESRP1_ENST00000423620.2_Silent_p.L40L|ESRP1_ENST00000454170.2_Silent_p.L40L|ESRP1_ENST00000358397.5_Silent_p.L40L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	40					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.L40L(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGTCGTGGATCTGGCCAACAA	0.527000													46	37					0	0	0.014410	0	0
MOV10	4343	broad.mit.edu	37	1	113217604	113217604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113217604C>T	ENST00000413052.2	+	2	460	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.R24W|MOV10_ENST00000544796.1_Missense_Mutation_p.R24W|MOV10_ENST00000357443.2_Missense_Mutation_p.R24W|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	24					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R24W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCTGGTCGTTCGGGGACTGGA	0.667000													8	47					0	0	0.006214	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691518	142691518	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:142691518G>C	ENST00000230173.6	+	4	1133	c.657G>C	c.(655-657)aaG>aaC	p.K219N	GPR126_ENST00000367609.3_Missense_Mutation_p.K219N|GPR126_ENST00000367608.2_Missense_Mutation_p.K219N|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.K219N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	219	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K218N(1)|p.K219N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GAAAGGCCAAGAGTGGCTACT	0.388000													11	31					0	0	0.013537	0	0
MALAT1	378938	broad.mit.edu	37	11	65269399	65269399	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65269399G>A	ENST00000534336.1	+	0	4167					NR_002819.2																						TTTAGTTTATGATTGCAGATA	0.378000													9	23					0	0	0.004482	0	0
MORC3	23515	broad.mit.edu	37	21	37741509	37741509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:37741509G>A	ENST00000400485.1	+	15	1919	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	615					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	p.D615N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTTTGTGGGTGACAGTGAACC	0.473000													70	130					0	0	0.014410	0	0
TCF20	6942	broad.mit.edu	37	22	42609885	42609885	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:42609885G>T	ENST00000359486.3	-	1	1563	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y	TCF20_ENST00000335626.4_Missense_Mutation_p.S476Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.S476Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGGGCATCAGAAAGTAACAT	0.478000													31	197					1.55811e-20	1.64693e-20	0.008361	1	0
RELA	5970	broad.mit.edu	37	11	65421919	65421919	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65421919G>A	ENST00000406246.3	-	11	1847	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	RELA_ENST00000308639.9_Missense_Mutation_p.S526L|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	529					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.S529L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TTCATCTCCTGAAAGGAGGCC	0.632000													23	56					0	0	0.014323	0	0
TMTC1	83857	broad.mit.edu	37	12	29757224	29757224	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:29757224C>T	ENST00000256062.5	-	7	1286	c.813G>A	c.(811-813)gaG>gaA	p.E271E	TMTC1_ENST00000552618.1_Silent_p.E441E|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Silent_p.E333E|TMTC1_ENST00000551659.1_Silent_p.E441E|TMTC1_ENST00000539277.1_Silent_p.E379E	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	379						integral to membrane	binding	p.E271E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCTCCTTGTGCTCCAGTCTCT	0.468000													9	30					0	0	0.004482	0	0
MDC1	9656	broad.mit.edu	37	6	30681764	30681764	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:30681764C>T	ENST00000376406.3	-	3	980	c.333G>A	c.(331-333)gtG>gtA	p.V111V	MDC1_ENST00000376405.2_Silent_p.V111V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	111	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.V111V(1)		breast(2)|kidney(1)|ovary(1)	4						GACGGTGACTCACCCCAGGGC	0.542000								Other conserved DNA damage response genes					18	75					0	0	0.004990	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450206	49450206	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:49450206C>T	ENST00000374201.3	-	5	867	c.565G>A	c.(565-567)Gag>Aag	p.E189K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E165K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E158K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	189	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.E189K(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTACTGACCTCAGAAATGGTA	0.423000													19	139					0	0	0.008871	0	0
NOP56	10528	broad.mit.edu	37	20	2636004	2636004	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:2636004G>A	ENST00000329276.5	+	6	1119	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	201					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.V201V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CGGAGCTGGTGAAGATCATCA	0.522000													15	83					0	0	0.028581	0	0
CHN1	1123	broad.mit.edu	37	2	175742603	175742603	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:175742603C>A	ENST00000409900.3	-	6	827	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	CHN1_ENST00000409156.3_Missense_Mutation_p.D172Y|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	172					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.D172Y(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTGTAGAATCTCTCTCATCA	0.398000			T	TAF15	extraskeletal myxoid chondrosarcoma								21	82					8.10497e-08	8.37796e-08	0.010504	1	0
SDC3	9672	broad.mit.edu	37	1	31346158	31346158	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:31346158C>T	ENST00000336798.7	-	3	2547	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	SDC3_ENST00000339394.6_Missense_Mutation_p.R410H			O75056	SDC3_HUMAN	syndecan 3	410						integral to membrane	cytoskeletal protein binding	p.R410H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTTCATACGATAGATGAG	0.562000													13	66					0	0	0.020292	0	0
PAPOLA	10914	broad.mit.edu	37	14	97003330	97003330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:97003330G>A	ENST00000216277.8	+	12	1268	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E350K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	350					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.E350K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TATCACAGATGAAATTTTGCT	0.318000													11	43					0	0	0.010729	0	0
CCDC70	83446	broad.mit.edu	37	13	52439716	52439716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:52439716G>C	ENST00000242819.4	+	2	498	c.202G>C	c.(202-204)Gag>Cag	p.E68Q		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	68						extracellular region|plasma membrane		p.E68Q(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTTCAGGGAAGAGATGTGGAC	0.468000													12	89					0	0	0.013537	0	0
ESYT3	83850	broad.mit.edu	37	3	138187010	138187010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:138187010C>T	ENST00000389567.4	+	12	1468	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	428						integral to membrane|plasma membrane		p.L428F(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTTTCATTGCTTACTGACCA	0.587000													18	39					0	0	0.010504	0	0
ABHD8	79575	broad.mit.edu	37	19	17405304	17405304	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17405304G>A	ENST00000247706.3	-	4	1181	c.942C>T	c.(940-942)ttC>ttT	p.F314F	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	314							hydrolase activity	p.F314F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTTGGCGGGCGAAGCCGGCCC	0.647000													12	94					0	0	0.016723	0	0
ESPL1	9700	broad.mit.edu	37	12	53677897	53677897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:53677897G>A	ENST00000257934.4	+	17	3224	c.3133G>A	c.(3133-3135)Gat>Aat	p.D1045N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1045N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1045					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.D1045N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAATGACATTGATCTCTGTCA	0.542000													77	222					0	0	0.014410	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416969	121416969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416969C>T	ENST00000393667.3	-	13	2511	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E796K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	796					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E796K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCTGTTCAGTGAGCAGG	0.418000													94	226					0	0	0.014410	0	0
MYO10	4651	broad.mit.edu	37	5	16781865	16781865	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:16781865G>C	ENST00000513610.1	-	6	1130	c.676C>G	c.(676-678)Cag>Gag	p.Q226E		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	226	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.Q226E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATGTTCAGCTGAACAAACTTC	0.423000													14	95					0	0	0.020292	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	33					0	0	0.016522	0	0
MUC6	4588	broad.mit.edu	37	11	1025893	1025893	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:1025893G>C	ENST00000421673.2	-	22	2761	c.2711C>G	c.(2710-2712)tCa>tGa	p.S904*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	904	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S904*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGGCTGTGAGTCGTTGAC	0.652000													6	17					0	0	0.021553	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107327	27107327	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:27107327G>A	ENST00000354348.2	+	1	252	c.240G>A	c.(238-240)aaG>aaA	p.K80K	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	80					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.K80K(1)		lung(1)	1						CCAAGCGCAAGACGGTCACCG	0.597000			T	BCL6	NHL								7	44					0	0	0.004482	0	0
GIN1	54826	broad.mit.edu	37	5	102442447	102442447	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:102442447T>C	ENST00000399004.2	-	3	400	c.306A>G	c.(304-306)acA>acG	p.T102T	GIN1_ENST00000508629.1_Silent_p.T102T	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	102					DNA integration		DNA binding	p.T102T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGGTCACAGATGTCCAATAAT	0.338000													17	35					0	0	0.004990	0	0
MYO5C	55930	broad.mit.edu	37	15	52553307	52553307	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:52553307C>T	ENST00000261839.7	-	10	1226	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.L298L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	355	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.L355L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGAACACCTTCAGGTGACTGT	0.572000													22	54					0	0	0.018920	0	0
GGCX	2677	broad.mit.edu	37	2	85777223	85777223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85777223C>T	ENST00000233838.4	-	15	2191	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	GGCX_ENST00000430215.3_Missense_Mutation_p.R647Q	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	p.R704Q(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TATCAGATTTCGAAGTGAGAT	0.463000													21	77					0	0	0.021523	0	0
BTK	695	broad.mit.edu	37	X	100608277	100608277	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:100608277C>T	ENST00000308731.7	-	18	1976	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	BTK_ENST00000372880.1_Missense_Mutation_p.E429K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	605	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.E605K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGCAGTCTCACTGTTAGTA	0.433000									Agammaglobulinemia, X-linked				110	88					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179604209	179604209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179604209C>G	ENST00000589042.1	-	48	13975	c.13751G>C	c.(13750-13752)gGt>gCt	p.G4584A	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G4346A|TTN_ENST00000460472.2_Missense_Mutation_p.G4221A|TTN_ENST00000342175.6_Missense_Mutation_p.G4413A|TTN_ENST00000591111.1_Missense_Mutation_p.G4267A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4267	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4346A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTCAGTACCACTTTCAGA	0.453000													46	61					0	0	0.014410	0	0
CLLU1	574028	broad.mit.edu	37	12	92818693	92818693	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:92818693G>A	ENST00000378485.1	+	1	959	c.237G>A	c.(235-237)ttG>ttA	p.L79L	CLLU1OS_ENST00000378487.2_Intron|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Intron|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1									p.L79L(1)		NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						ACCCTGAGTTGATGTGTGAGC	0.269000													23	82					0	0	0.021523	0	0
SAP130	79595	broad.mit.edu	37	2	128750795	128750795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:128750795G>C	ENST00000357702.5	-	12	1652	c.1521C>G	c.(1519-1521)atC>atG	p.I507M	SAP130_ENST00000259234.6_Missense_Mutation_p.I481M|SAP130_ENST00000259235.3_Missense_Mutation_p.I507M	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	507					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.I507M(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGGAACTGGTGATTGGGGTGT	0.453000													32	107					0	0	0.013726	0	0
PANK3	79646	broad.mit.edu	37	5	167993164	167993164	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:167993164A>G	ENST00000239231.6	-	3	805	c.489T>C	c.(487-489)ttT>ttC	p.F163F		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	163					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	p.F163F(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AGGCATTAGCAAAATAATAGC	0.448000													28	155					0	0	0.006320	0	0
ADRA2A	150	broad.mit.edu	37	10	112839122	112839122	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:112839122C>T	ENST00000280155.2	+	1	2333	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	441					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.L441L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	AGAAGATCCTCTGTCGGGGGG	0.592000													14	77					0	0	0.028581	0	0
GATAD2A	54815	broad.mit.edu	37	19	19612021	19612021	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19612021G>A	ENST00000404158.1	+	11	1717	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	GATAD2A_ENST00000358713.3_Silent_p.K432K|GATAD2A_ENST00000537887.1_Silent_p.K61K|GATAD2A_ENST00000252577.5_Silent_p.K432K|GATAD2A_ENST00000429563.2_Silent_p.K260K|GATAD2A_ENST00000360315.3_Silent_p.K432K			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	432					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K432K(1)|p.K289K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGGAGGAGAAGAGCGGCGCCA	0.622000													7	44					0	0	0.003080	0	0
MCM4	4173	broad.mit.edu	37	8	48888324	48888324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:48888324G>C	ENST00000262105.2	+	15	2624	c.2415G>C	c.(2413-2415)ttG>ttC	p.L805F	MCM4_ENST00000523944.1_Missense_Mutation_p.L805F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	805					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.L805F(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGAAGCATTGAAAAAGCTTA	0.328000													13	58					0	0	0.013537	0	0
ATP2A3	489	broad.mit.edu	37	17	3856676	3856676	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:3856676C>T	ENST00000309890.7	-	3	334	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	ATP2A3_ENST00000397041.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000397043.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000352011.3_Missense_Mutation_p.V62M	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	62					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.V62M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGATGCGCACCAGGAGGTCC	0.647000													7	61					0	0	0.003080	0	0
BRWD1	54014	broad.mit.edu	37	21	40559037	40559037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:40559037G>A	ENST00000333229.2	-	42	7205	c.6878C>T	c.(6877-6879)tCt>tTt	p.S2293F		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S2293F(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCACTTTCAGAATTTATGGT	0.343000													56	146					0	0	0.014410	0	0
NCAPD2	9918	broad.mit.edu	37	12	6626830	6626830	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6626830G>C	ENST00000315579.5	+	12	2188	c.1389G>C	c.(1387-1389)caG>caC	p.Q463H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q418H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	463	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.Q463H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGAGGGCCCAGAGGCGAACTG	0.483000													5	51					0	0	0.014758	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177390	6177390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:6177390C>T	ENST00000588304.1	+	8	1185	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	ACSBG2_ENST00000588485.1_Nonsense_Mutation_p.Q110*|ACSBG2_ENST00000586696.1_Nonsense_Mutation_p.Q297*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.Q297*|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.Q297*			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	297					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	p.Q297*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACTTTGCTCAAGCAGATGC	0.507000													20	34					0	0	0.007413	0	0
CPSF1	29894	broad.mit.edu	37	8	145622704	145622704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:145622704C>T	ENST00000349769.3	-	22	2477	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	795					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.E795K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCACCTACCTCCATGGTGCCA	0.682000													12	9					0	0	0.010729	0	0
RPL31	6160	broad.mit.edu	37	2	101622473	101622473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622473G>A	ENST00000264258.3	+	4	887	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RPL31_ENST00000409650.1_Missense_Mutation_p.E96K|RPL31_ENST00000409028.4_Missense_Mutation_p.E96K|RPL31_ENST00000409733.1_Missense_Mutation_p.E96K|RPL31_ENST00000409320.3_Missense_Mutation_p.E96K|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409038.1_Missense_Mutation_p.E96K	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	96					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.E96K(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						TAATGAGGATGAAGATTCACC	0.378000													5	67					0	0	0.016723	0	0
FNDC3B	64778	broad.mit.edu	37	3	172028660	172028660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:172028660G>C	ENST00000336824.4	+	11	1342	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E415Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E415Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	415	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane		p.E415Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTACCTTTTAGAGTGGGATGA	0.313000													10	303					0	0	0.006214	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316071	19316071	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:19316071G>T	ENST00000454498.2	-	5	1730	c.717C>A	c.(715-717)ctC>ctA	p.L239L	CSGALNACT1_ENST00000522854.1_Silent_p.L239L|CSGALNACT1_ENST00000311540.4_Silent_p.L239L|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Silent_p.L239L|CSGALNACT1_ENST00000332246.6_Silent_p.L239L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	239					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.L239L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433000													61	200					1.87469e-40	2.00538e-40	0.014410	1	0
TRGC1	6966	broad.mit.edu	37	7	38305062	38305062	+	RNA	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:38305062G>C	ENST00000443402.2	-	0	217					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					CCGTTAACCAGCTAAATTTCA	0.393000													54	266					0	0	0.014410	0	0
NDST4	64579	broad.mit.edu	37	4	115858492	115858492	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:115858492G>A	ENST00000264363.2	-	5	2067	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	463	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.F463F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATTGTGAATGAAGCCCTTTC	0.438000													21	72					0	0	0.014323	0	0
LRRC59	55379	broad.mit.edu	37	17	48460409	48460409	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48460409G>A	ENST00000225972.7	-	7	1099	c.864C>T	c.(862-864)gtC>gtT	p.V288V		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	288						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	p.V288V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GTAGACCCTGGACCGCATTGT	0.607000													6	8					0	0	0.021553	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400556	117400556	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:117400556C>T	ENST00000160373.3	-	10	3196	c.3105G>A	c.(3103-3105)gtG>gtA	p.V1035V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1035								p.V1035V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TATTGCAAGTCACGTCTTCCA	0.453000													29	180					0	0	0.008361	0	0
TSC1	7248	broad.mit.edu	37	9	135781419	135781419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:135781419G>A	ENST00000298552.3	-	15	1767	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q516*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q465*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	516					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.Q516*(2)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTCCGCTGAGAACCTGGG	0.567000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				21	19					0	0	0.010504	0	0
OR2C1	4993	broad.mit.edu	37	16	3406140	3406140	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:3406140C>G	ENST00000304936.2	+	1	252	c.200C>G	c.(199-201)tCc>tGc	p.S67C		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67C(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGCAACCTCTCCTCCTTGGAC	0.522000													37	161					0	0	0.027894	0	0
CCDC30	728621	broad.mit.edu	37	1	43042700	43042700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:43042700G>A	ENST00000428554.2	+	14	2008	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	CCDC30_ENST00000342022.4_Missense_Mutation_p.E289K|CCDC30_ENST00000507855.1_Missense_Mutation_p.E78K|CCDC30_ENST00000340612.4_Missense_Mutation_p.E289K|CCDC30_ENST00000390640.4_Missense_Mutation_p.E78K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	289								p.E289K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GATAAAGATTGAACTAAAGCA	0.388000													13	53					0	0	0.016723	0	0
URB2	9816	broad.mit.edu	37	1	229771854	229771854	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229771854C>T	ENST00000258243.2	+	4	1630	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	498						nucleolus		p.L498L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCACGGTACTCTCTGCATGCC	0.577000													62	127					0	0	0.014410	0	0
RALY	22913	broad.mit.edu	37	20	32664519	32664519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:32664519G>A	ENST00000375114.3	+	6	1086	c.508G>A	c.(508-510)Gag>Aag	p.E170K	RALY_ENST00000246194.3_Missense_Mutation_p.E186K|RALY_ENST00000493399.1_3'UTR	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	186						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	p.E186K(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AAAGAGCAGTGAGCTGCAGGC	0.572000													8	45					0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870243	140870243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140870243C>T	ENST00000252087.1	+	1	1436	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		479	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S479L(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTGCCTCAGATCCAGAC	0.542000													33	116					0	0	0.013726	0	0
FEM1B	10116	broad.mit.edu	37	15	68582398	68582398	+	Silent	SNP	C	C	T	rs142803256		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:68582398C>T	ENST00000306917.4	+	2	1317	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	234					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.V234V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AAGCTGATGTCGTAGAACTGT	0.458000													36	466					0	0	0.017118	0	0
PTPN4	5775	broad.mit.edu	37	2	120709702	120709702	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:120709702A>T	ENST00000263708.2	+	19	2581	c.1810A>T	c.(1810-1812)Aat>Tat	p.N604Y	PTPN4_ENST00000544261.1_Missense_Mutation_p.N237Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	604						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.N604Y(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTTCGACCTAATGGTGAGTA	0.393000													19	142					0	0	0.006122	0	0
SLC39A12	221074	broad.mit.edu	37	10	18331702	18331702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:18331702G>C	ENST00000377369.2	+	13	2289	c.2016G>C	c.(2014-2016)ttG>ttC	p.L672F	SLC39A12_ENST00000539911.1_Missense_Mutation_p.L538F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L635F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L671F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	672					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L635F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACTTTGGATTGATCCTAGGTT	0.338000													35	186					0	0	0.017118	0	0
TRIM10	10107	broad.mit.edu	37	6	30126201	30126201	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:30126201T>C	ENST00000449742.2	-	3	806	c.731A>G	c.(730-732)gAg>gGg	p.E244G	TRIM10_ENST00000376704.3_Missense_Mutation_p.E244G	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	244						cytoplasm	zinc ion binding	p.E244G(1)		ovary(1)	1						TGCTGGCCTCTCATTCTTCTC	0.537000													41	219					0	0	0.027894	0	0
TMEM74	157753	broad.mit.edu	37	8	109797208	109797208	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:109797208G>C	ENST00000297459.3	-	2	298	c.120C>G	c.(118-120)ctC>ctG	p.L40L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	40					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.L40L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCTGACAGCAGAGAGCAGCTC	0.542000													18	121					0	0	0.007413	0	0
PLK3	1263	broad.mit.edu	37	1	45269324	45269324	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:45269324C>T	ENST00000372201.4	+	9	1364	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	375						membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.L336L(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGAGCGGCCTCATGCGCACAT	0.617000													7	22					0	0	0.003080	0	0
EXOC6	54536	broad.mit.edu	37	10	94757311	94757311	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:94757311G>C	ENST00000371552.4	+	19	2048	c.2019G>C	c.(2017-2019)gaG>gaC	p.E673D	EXOC6_ENST00000371547.4_Missense_Mutation_p.E694D|EXOC6_ENST00000260762.6_Missense_Mutation_p.E678D|EXOC6_ENST00000443748.2_Missense_Mutation_p.E575D	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	678					protein transport|vesicle docking involved in exocytosis	exocyst		p.E673D(1)|p.E678D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TGGACAGTGAGTTAAAACAAA	0.388000													10	81					0	0	0.006214	0	0
THADA	63892	broad.mit.edu	37	2	43801742	43801742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:43801742G>A	ENST00000403856.1	-	12	1609	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	THADA_ENST00000405975.2_Nonsense_Mutation_p.Q488*|THADA_ENST00000330266.7_Nonsense_Mutation_p.Q198*|THADA_ENST00000402360.2_Nonsense_Mutation_p.Q488*|THADA_ENST00000415080.2_Nonsense_Mutation_p.Q198*|THADA_ENST00000405006.4_Nonsense_Mutation_p.Q488*|THADA_ENST00000404790.1_Nonsense_Mutation_p.Q488*			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	488							binding	p.Q488*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAATGACTGGTCTCCCATC	0.403000													48	128					0	0	0.014410	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134454941	134454941	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:134454941C>G	ENST00000372195.1	-	24	3471	c.3228G>C	c.(3226-3228)ctG>ctC	p.L1076L	RAPGEF1_ENST00000372190.3_Silent_p.L1077L|RAPGEF1_ENST00000372189.3_Silent_p.L1059L			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1059					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	p.L1077L(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTTTAATTTTCAGAGACAGTT	0.517000													34	148					0	0	0.015359	0	0
MED13L	23389	broad.mit.edu	37	12	116549237	116549237	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:116549237C>G	ENST00000281928.3	-	3	597	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	131					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.E131Q(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTACCTTTCTAACAGATTG	0.388000													13	114					0	0	0.016723	0	0
THADA	63892	broad.mit.edu	37	2	43458299	43458299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:43458299G>A	ENST00000405006.4	-	38	6001	c.5650C>T	c.(5650-5652)Cag>Tag	p.Q1884*	THADA_ENST00000405975.2_Nonsense_Mutation_p.Q1884*|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Nonsense_Mutation_p.Q1565*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1884							binding	p.Q1884*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTGAAGAACTGAGACAGGAGG	0.532000													12	28					0	0	0.013537	0	0
PLCD3	113026	broad.mit.edu	37	17	43196285	43196285	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:43196285C>T	ENST00000322765.5	-	5	923	c.810G>A	c.(808-810)ctG>ctA	p.L270L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	270	EF-hand 3.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L270L(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CAGGGGCACTCAGCACGCGGT	0.652000													7	11					0	0	0.001984	0	0
TMEM130	222865	broad.mit.edu	37	7	98460916	98460916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:98460916C>T	ENST00000339375.4	-	2	367	c.193G>A	c.(193-195)Gct>Act	p.A65T	TMEM130_ENST00000416379.2_Missense_Mutation_p.A65T|TMEM130_ENST00000546258.1_Missense_Mutation_p.A46T|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000450876.1_5'UTR	NM_001134450.1|NM_152913.2	NP_001127922.1|NP_690877.1	Q8N3G9	TM130_HUMAN	transmembrane protein 130	65						Golgi membrane|integral to membrane		p.A65T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGCGTCAGCGGGCAGGGCC	0.642000													6	11					0	0	0.003080	0	0
CD163L1	283316	broad.mit.edu	37	12	7559389	7559389	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:7559389C>G	ENST00000313599.3	-	5	883	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	CD163L1_ENST00000396630.1_Missense_Mutation_p.E276Q|CD163L1_ENST00000416109.2_Missense_Mutation_p.E286Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	276	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E276Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTTCAGCTCTACTCTCCCC	0.473000													19	110					0	0	0.012319	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63066796	63066796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:63066796C>G	ENST00000371129.3	+	3	730	c.650C>G	c.(649-651)tCt>tGt	p.S217C	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	217					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	p.S217C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATTTCTCTATCTTCCAAGCCA	0.343000													22	131					0	0	0.012319	0	0
MCAT	27349	broad.mit.edu	37	22	43538972	43538972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:43538972G>A	ENST00000290429.6	-	1	428	c.383C>T	c.(382-384)tCg>tTg	p.S128L	MCAT_ENST00000327555.5_Missense_Mutation_p.S128L|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	p.S128L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				AGCGGCCAGCGATGCCACGAA	0.682000													3	5					0	0	0.009096	0	0
PML	5371	broad.mit.edu	37	15	74336969	74336969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:74336969C>T	ENST00000565898.1	+	8	2209	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	PML_ENST00000268058.3_Missense_Mutation_p.L757F			P29590	PML_HUMAN	promyelocytic leukemia	757					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.L757F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GTGCCGCCTCCTCGAGGTCTC	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	23					0	0	0.014758	0	0
FNDC7	163479	broad.mit.edu	37	1	109276098	109276098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:109276098C>T	ENST00000370017.3	+	10	2361	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	FNDC7_ENST00000271311.2_Missense_Mutation_p.S696L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	696	Fibronectin type-III 8.					extracellular region		p.S462L(1)|p.S695L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGATGGTCTCACCAGTTGCT	0.423000													23	94					0	0	0.012319	0	0
TRPC3	7222	broad.mit.edu	37	4	122853440	122853440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:122853440C>T	ENST00000264811.5	-	1	1172	c.754G>A	c.(754-756)Gag>Aag	p.E252K	TRPC3_ENST00000379645.3_Missense_Mutation_p.E325K|TRPC3_ENST00000513531.1_Missense_Mutation_p.E252K	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	240					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E252K(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AACTCCTTCTCTATGTTGGCC	0.627000													10	31					0	0	0.008291	0	0
DUSP16	80824	broad.mit.edu	37	12	12630910	12630910	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630910G>A	ENST00000228862.2	-	7	1486	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	285	Tyrosine-protein phosphatase.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.F285F(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAGAAAATTGAAGTTTGGAG	0.398000													60	152					0	0	0.014410	0	0
POLQ	10721	broad.mit.edu	37	3	121207358	121207358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121207358C>T	ENST00000264233.5	-	16	4548	c.4420G>A	c.(4420-4422)Gaa>Aaa	p.E1474K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1474					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.E1609K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGAAGACATTCTCCTTCTACA	0.333000								DNA polymerases (catalytic subunits)					33	171					0	0	0.009535	0	0
ETNK1	55500	broad.mit.edu	37	12	22778128	22778128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:22778128G>A	ENST00000266517.4	+	1	120	c.31G>A	c.(31-33)Gac>Aac	p.D11N	ETNK1_ENST00000335148.3_Missense_Mutation_p.D11N	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	11					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	p.D11N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCCAGCTCCGACAACAGGAA	0.716000													3	5					0	0	0.009096	0	0
ROBO4	54538	broad.mit.edu	37	11	124757737	124757737	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:124757737C>T	ENST00000306534.3	-	13	2434		c.e13-1		ROBO4_ENST00000533054.1_Splice_Site	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)						angiogenesis|cell differentiation	integral to membrane	receptor activity	p.?(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGCTGCAGCTCTGCAAAGAAA	0.562000													14	45					0	0	0.016723	0	0
EHD4	30844	broad.mit.edu	37	15	42193072	42193072	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:42193072G>C	ENST00000220325.4	-	6	1480	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	466	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.S466*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GTTGACACCTGATATCTTGCC	0.597000													10	51					0	0	0.010729	0	0
IPO13	9670	broad.mit.edu	37	1	44424218	44424218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:44424218C>G	ENST00000372343.3	+	10	2497	c.1835C>G	c.(1834-1836)tCg>tGg	p.S612W		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	612					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.S612W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AACCTGCACTCGCTTATCTCA	0.562000													14	186					0	0	0.024245	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136711	96136711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:96136711C>T	ENST00000324765.8	+	5	928	c.581C>T	c.(580-582)cCg>cTg	p.P194L	DIAPH2_ENST00000373049.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P190L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P194L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	194	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.P194L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCAGCAATCCGGTCAGGTAA	0.343000													51	33					0	0	0.014410	0	0
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:34867123G>A	ENST00000505624.1	+	7	892	c.789G>A	c.(787-789)caG>caA	p.Q263Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263							binding	p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547000													5	17					0	0	0.021553	0	0
SPTA1	6708	broad.mit.edu	37	1	158641938	158641938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:158641938C>T	ENST00000368147.4	-	11	1579	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E467K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGATGACGCTCGTCCCACAGT	0.428000													14	64					0	0	0.020292	0	0
KEAP1	9817	broad.mit.edu	37	19	10610637	10610637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10610637C>T	ENST00000171111.5	-	2	620	c.73G>A	c.(73-75)Gag>Aag	p.E25K	KEAP1_ENST00000393623.2_Missense_Mutation_p.E25K	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E25K(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCTGCCCCCTCAGGGCACTGT	0.652000													19	73					0	0	0.007413	0	0
PCNT	5116	broad.mit.edu	37	21	47851851	47851851	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:47851851G>C	ENST00000359568.5	+	38	8580	c.8473G>C	c.(8473-8475)Gag>Cag	p.E2825Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2825					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E2825Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTTGAGGCTGAGGCTCAGAA	0.572000													9	45					0	0	0.004482	0	0
MICAL2	9645	broad.mit.edu	37	11	12278388	12278388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:12278388C>G	ENST00000256194.4	+	24	3300	c.3012C>G	c.(3010-3012)ttC>ttG	p.F1004L	MICAL2_ENST00000527546.1_Missense_Mutation_p.F814L|MICAL2_ENST00000379612.3_Missense_Mutation_p.F778L|MICAL2_ENST00000537344.1_Missense_Mutation_p.F814L|MICAL2_ENST00000342902.5_Missense_Mutation_p.F983L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1004	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.F1004L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGTGTTACTTCTGTAAGAAAC	0.557000													10	49					0	0	0.006214	0	0
H2AFY	9555	broad.mit.edu	37	5	134705752	134705752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:134705752C>T	ENST00000511689.1	-	3	846	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000312469.4_Missense_Mutation_p.V85M|H2AFY_ENST00000304332.4_Missense_Mutation_p.V85M|H2AFY_ENST00000510038.1_Missense_Mutation_p.V85M	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	85	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.V85M(2)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGGCCACAGCCAGCAGG	0.562000													3	29					0	0	0.009096	0	0
RASL12	51285	broad.mit.edu	37	15	65347506	65347506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:65347506C>T	ENST00000220062.4	-	5	808	c.532G>A	c.(532-534)Gag>Aag	p.E178K	RASL12_ENST00000421977.3_Missense_Mutation_p.E159K|RASL12_ENST00000434605.2_Missense_Mutation_p.E167K	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	178					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.E167K(1)|p.E178K(1)		lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CGCACTGCCTCGTGGAAGACA	0.647000													7	29					0	0	0.004482	0	0
NCOR1	9611	broad.mit.edu	37	17	16001781	16001781	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:16001781A>G	ENST00000268712.3	-	21	2977	c.2720T>C	c.(2719-2721)cTg>cCg	p.L907P	NCOR1_ENST00000395851.1_Missense_Mutation_p.L923P|NCOR1_ENST00000395848.1_Missense_Mutation_p.L814P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	907					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.L907P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGGTTTAACAGTGAAGGCTT	0.373000													3	73					0	0	0.004672	0	0
SNX30	401548	broad.mit.edu	37	9	115598511	115598511	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:115598511G>A	ENST00000374232.3	+	5	800	c.636G>A	c.(634-636)aaG>aaA	p.K212K		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	212					cell communication|protein transport	cytoplasm	phosphatidylinositol binding	p.K212K(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACGCCTACAAGAAGCAAGGGA	0.498000													23	163					0	0	0.012319	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128694	46128694	+	Missense_Mutation	SNP	A	A	G	rs117666459	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:46128694A>G	ENST00000362042.3	+	2	830	c.214A>G	c.(214-216)Ata>Gta	p.I72V	NFE2L1_ENST00000585291.1_Missense_Mutation_p.I72V|NFE2L1_ENST00000361665.3_Missense_Mutation_p.I72V|NFE2L1_ENST00000357480.5_Missense_Mutation_p.I72V	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	72					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.I72V(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCAAGAGCATAGACCTGGA	0.567000													38	115					0	0	0.017118	0	0
BARX2	8538	broad.mit.edu	37	11	129246023	129246023	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:129246023C>G	ENST00000281437.4	+	1	189	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	31								p.L31L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACGAGATCCTCTCCAAGGAGA	0.597000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	178					0	0	0.010818	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618332	77618332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:77618332C>T	ENST00000521891.2	+	2	2457	c.2009C>T	c.(2008-2010)cCg>cTg	p.P670L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P670L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P670L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P670L|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	670						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P670L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCCTGAGCCGGGTGGCTCT	0.507000										HNSCC(33;0.089)			5	39					0	0	0.021553	0	0
COL27A1	85301	broad.mit.edu	37	9	117027210	117027210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:117027210C>G	ENST00000356083.3	+	30	3647	c.3256C>G	c.(3256-3258)Cca>Gca	p.P1086A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1086	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1086A(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGGGCCCTCCAGGACCCCA	0.647000													39	42					0	0	0.010771	0	0
ACLY	47	broad.mit.edu	37	17	40070073	40070073	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:40070073G>A	ENST00000352035.2	-	2	184	c.54C>T	c.(52-54)ttC>ttT	p.F18F	ACLY_ENST00000590151.1_Silent_p.F18F|ACLY_ENST00000537919.1_Silent_p.F18F|ACLY_ENST00000393896.2_Silent_p.F18F|ACLY_ENST00000353196.1_Silent_p.F18F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	18					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.F18F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTACAGATGAACTTGTAAA	0.562000													25	178					0	0	0.024334	0	0
ELP5	23587	broad.mit.edu	37	17	7160258	7160258	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7160258C>T	ENST00000574993.1	+	5	757	c.540C>T	c.(538-540)ctC>ctT	p.L180L	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Silent_p.L180L|ELP5_ENST00000356683.2_Silent_p.L180L|ELP5_ENST00000396627.2_Silent_p.L180L|ELP5_ENST00000396628.2_Silent_p.L180L					elongator acetyltransferase complex subunit 5									p.L180L(2)									TGGGAGCTCTCAGCAGCCTTG	0.617000													13	29					0	0	0.020292	0	0
TNK2	10188	broad.mit.edu	37	3	195615316	195615316	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:195615316C>T	ENST00000333602.6	-	2	761	c.144G>A	c.(142-144)aaG>aaA	p.K48K	TNK2_ENST00000428187.1_Silent_p.K80K|TNK2_ENST00000392400.1_Silent_p.K48K|TNK2_ENST00000381916.2_Silent_p.K111K|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000316664.3_Silent_p.K48K	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	48	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K48K(2)|p.K111K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCATGCCGATCTTCTCCAGGT	0.607000													4	65					0	0	0.009096	0	0
DUSP16	80824	broad.mit.edu	37	12	12630832	12630832	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630832G>C	ENST00000228862.2	-	7	1564	c.933C>G	c.(931-933)ctC>ctG	p.L311L	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	311					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.L311L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCAGCAGCTTGAGTTTGCTCT	0.517000													49	92					0	0	0.014410	0	0
SYCP2L	221711	broad.mit.edu	37	6	10913109	10913109	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:10913109T>C	ENST00000283141.6	+	14	1317	c.1021T>C	c.(1021-1023)Tgg>Cgg	p.W341R	SYCP2L_ENST00000543878.1_Missense_Mutation_p.W182R|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	341						nucleus		p.W341R(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAATACTCTATGGGACTCAGT	0.348000													29	53					0	0	0.006320	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001237	13001237	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:13001237A>G	ENST00000376189.1	-	3	545	c.446T>C	c.(445-447)gTg>gCg	p.V149A	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.V149A	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	149								p.V149A(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTACGAACACAGTCAAGGG	0.507000													26	388					0	0	0.008740	0	0
TTC7A	57217	broad.mit.edu	37	2	47249004	47249004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:47249004G>A	ENST00000319190.5	+	12	1764	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.E112K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E466K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E432K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	466							binding	p.E466K(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTTGCAGCTAGAGGAAGCAGA	0.562000													38	99					0	0	0.021022	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			52	251					0	0	0.014410	0	0
UBE2O	63893	broad.mit.edu	37	17	74387282	74387282	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:74387282G>A	ENST00000319380.7	-	18	3685	c.3621C>T	c.(3619-3621)ggC>ggT	p.G1207G		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1207			G -> S (in dbSNP:rs3803739).				ATP binding|ubiquitin-protein ligase activity	p.S1207S(1)|p.G1207G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTGAGGCCAGGCCCTGGGCAC	0.632000													13	96					0	0	0.020292	0	0
BTN3A3	10384	broad.mit.edu	37	6	26446154	26446154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26446154C>T	ENST00000244519.2	+	5	899	c.656C>T	c.(655-657)tCc>tTc	p.S219F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S177F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S177F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	219	Ig-like V-type 2.					integral to membrane		p.S219F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGGGTGTATCCTGCATCATC	0.552000													54	81					0	0	0.014410	0	0
CORO6	84940	broad.mit.edu	37	17	27946710	27946710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27946710C>T	ENST00000345068.5	-	3	493	c.280G>A	c.(280-282)Gac>Aac	p.D94N	CORO6_ENST00000445145.2_Missense_Mutation_p.D94N|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Missense_Mutation_p.D94N|CORO6_ENST00000580212.1_Missense_Mutation_p.D94N|CORO6_ENST00000388767.3_Missense_Mutation_p.D94N			Q6QEF8	CORO6_HUMAN	coronin 6	94					actin cytoskeleton organization	actin cytoskeleton	actin filament binding	p.D94N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ATAACGTTGTCATTGTGTGGA	0.572000													23	141					0	0	0.012319	0	0
DNAH14	127602	broad.mit.edu	37	1	225147899	225147899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:225147899G>A	ENST00000430092.1	+	4	477	c.262G>A	c.(262-264)Gag>Aag	p.E88K	DNAH14_ENST00000445597.2_Intron|DNAH14_ENST00000439375.2_Missense_Mutation_p.E88K|DNAH14_ENST00000366850.3_Missense_Mutation_p.E88K|DNAH14_ENST00000366849.1_Missense_Mutation_p.E88K|DNAH14_ENST00000366848.1_Missense_Mutation_p.E88K|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000400952.3_Missense_Mutation_p.E88K	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	249					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity	p.E88K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GGTTTCTCCAGAGCCAGCTTC	0.368000													32	58					0	0	0.009535	0	0
ZNF320	162967	broad.mit.edu	37	19	53383882	53383882	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53383882G>A	ENST00000595635.1	-	8	1998	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.C499C	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C499C(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TATACTCATTGCACTTGAAAC	0.368000													22	140					0	0	0.024334	0	0
BCL2L13	23786	broad.mit.edu	37	22	18209590	18209590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:18209590G>C	ENST00000317582.5	+	7	1095	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.E88Q|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E126Q|BCL2L13_ENST00000543133.1_Missense_Mutation_p.E88Q|BCL2L13_ENST00000485631.1_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	250					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	p.E250Q(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGGCAGTCTGAGAGCTTACC	0.537000													8	52					0	0	0.003080	0	0
PPRC1	23082	broad.mit.edu	37	10	103900464	103900464	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103900464G>A	ENST00000278070.2	+	5	2238	c.2199G>A	c.(2197-2199)ctG>ctA	p.L733L	PPRC1_ENST00000413464.2_Silent_p.L733L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.L733L(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGATTCTCTGAAAATTGAAA	0.547000													28	84					0	0	0.008361	0	0
XYLT2	64132	broad.mit.edu	37	17	48434547	48434547	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48434547G>A	ENST00000017003.2	+	9	1924	c.1875G>A	c.(1873-1875)ctG>ctA	p.L625L	XYLT2_ENST00000507602.1_Silent_p.L625L	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	625					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.L625L(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGATGTGGCTGATGCCCCAAG	0.632000													6	15					0	0	0.021553	0	0
CHD2	1106	broad.mit.edu	37	15	93558052	93558052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:93558052C>T	ENST00000394196.4	+	37	5887	c.4819C>T	c.(4819-4821)Cat>Tat	p.H1607Y	CHD2_ENST00000557381.1_Missense_Mutation_p.H1607Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1607					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.H1607Y(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCAGAAGCCTCATTTGCCTGC	0.517000													25	174					0	0	0.027356	0	0
MTF2	22823	broad.mit.edu	37	1	93580289	93580289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:93580289G>C	ENST00000370298.4	+	4	620	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	MTF2_ENST00000540243.1_Missense_Mutation_p.E9Q|MTF2_ENST00000370303.4_Missense_Mutation_p.E111Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.E9Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	111						nucleus	DNA binding|zinc ion binding	p.E111Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		ATGTCAAGAAGAGTATTCAGA	0.328000													10	55					0	0	0.013537	0	0
MOV10	4343	broad.mit.edu	37	1	113234326	113234326	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113234326G>T	ENST00000369644.1	+	7	1737	c.708G>T	c.(706-708)ggG>ggT	p.G236G	MOV10_ENST00000369645.1_Silent_p.G292G|MOV10_ENST00000413052.2_Silent_p.G292G|MOV10_ENST00000357443.2_Silent_p.G292G|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	292					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.G292G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGCGCTGGGGACATACTACC	0.542000													20	79					8.10497e-08	8.37796e-08	0.010504	1	0
SDPR	8436	broad.mit.edu	37	2	192701111	192701111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192701111C>G	ENST00000304141.4	-	2	1145	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	272						caveola|cytosol	phosphatidylserine binding|protein binding	p.K272N(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGAGAGATTTCTTAATCTTCT	0.458000													174	332					0	0	0.014410	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397338	5397338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:5397338C>T	ENST00000341928.2	-	18	2900	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	EPB41L3_ENST00000544123.1_Missense_Mutation_p.E685K|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E159K|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E151K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E632K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E854K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E632K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	854	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.E854K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACACGGTCTCCTGCACCACC	0.602000													8	40					0	0	0.003080	0	0
RFT1	91869	broad.mit.edu	37	3	53159984	53159984	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:53159984G>A	ENST00000296292.3	-	2	151	c.90C>T	c.(88-90)gtC>gtT	p.V30V	RFT1_ENST00000394738.3_Silent_p.V30V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	30					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.V30V(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ATGCATTCAAGACAAAGGTGA	0.393000													3	41					0	0	0.009096	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579102	44579102	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:44579102G>A	ENST00000289547.4	-	2	949	c.894C>T	c.(892-894)gtC>gtT	p.V298V	NPC1L1_ENST00000423141.1_Silent_p.V298V|NPC1L1_ENST00000546276.1_Silent_p.V298V|NPC1L1_ENST00000381160.3_Silent_p.V298V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	298					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.V298V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAGGATGGTGACCACAGCGA	0.612000													20	87					0	0	0.007413	0	0
SCAF4	57466	broad.mit.edu	37	21	33044531	33044531	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:33044531C>G	ENST00000286835.7	-	20	3007	c.2625G>C	c.(2623-2625)ttG>ttC	p.L875F	SCAF4_ENST00000434667.3_Missense_Mutation_p.L860F|SCAF4_ENST00000399804.1_Missense_Mutation_p.L853F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	875						nucleus	nucleotide binding|RNA binding	p.L875F(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGGCGGCATCAAAGGGAACC	0.632000													22	73					0	0	0.014323	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21780081	21780081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:21780081G>C	ENST00000206660.6	+	8	1029	c.1029G>C	c.(1027-1029)ttG>ttC	p.L343F	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.L316F|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L316F|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.L343F			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	343					response to stimulus|visual perception	cilium		p.L343F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGTGAGCTTGAAGAGCCAAC	0.453000													11	11					0	0	0.008291	0	0
FCN3	8547	broad.mit.edu	37	1	27695779	27695779	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27695779G>C	ENST00000270879.4	-	8	853	c.848C>G	c.(847-849)tCa>tGa	p.S283*	FCN3_ENST00000354982.2_Nonsense_Mutation_p.S272*	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	283	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	p.S283*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCACGGCCTGAGGCCCAGTC	0.577000													10	65					0	0	0.010729	0	0
COX5B	1329	broad.mit.edu	37	2	98263594	98263594	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:98263594G>A	ENST00000258424.2	+	2	215	c.168G>A	c.(166-168)aaG>aaA	p.K56K	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	56					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	p.K56K(1)		endometrium(1)|lung(1)|urinary_tract(1)	3						TGGCTGCAAAGAAGGGACTGG	0.483000													26	73					0	0	0.024334	0	0
MAPK1	5594	broad.mit.edu	37	22	22161970	22161970	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:22161970G>A	ENST00000215832.6	-	2	473	c.285C>T	c.(283-285)atC>atT	p.I95I	MAPK1_ENST00000544786.1_Silent_p.I95I|MAPK1_ENST00000398822.3_Silent_p.I95I	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	95	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.I95I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TCATTTGCTCGATGGTTGGTG	0.403000													8	110					0	0	0.003080	0	0
ZNF557	79230	broad.mit.edu	37	19	7083113	7083113	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:7083113C>T	ENST00000414706.1	+	8	1124	c.651C>T	c.(649-651)ttC>ttT	p.F217F	ZNF557_ENST00000252840.6_Silent_p.F217F|ZNF557_ENST00000439035.2_Silent_p.F210F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F217F(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGAAAACCTTCAGCAGCAGAT	0.438000													32	52					0	0	0.008361	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817405	26817405	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:26817405T>C	ENST00000444914.3	+	3	732	c.312T>C	c.(310-312)caT>caC	p.H104H	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.H104H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCATCCCATAACCTCGGGG	0.537000													16	102					0	0	0.004990	0	0
SUGP2	10147	broad.mit.edu	37	19	19135806	19135806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19135806C>G	ENST00000601879.1	-	3	1648	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	SUGP2_ENST00000452918.2_Missense_Mutation_p.E451Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.E220Q|SUGP2_ENST00000600377.1_Missense_Mutation_p.E465Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.E451Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	451					mRNA processing|RNA splicing	nucleus	RNA binding	p.E451Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACACTTAGCTCGTAGGCATTG	0.473000													42	253					0	0	0.007835	0	0
CTDP1	9150	broad.mit.edu	37	18	77474710	77474710	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:77474710A>C	ENST00000299543.7	+	8	1397	c.1250A>C	c.(1249-1251)cAa>cCa	p.Q417P	CTDP1_ENST00000075430.7_Missense_Mutation_p.Q417P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	417					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.Q417P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACCAGCAGCCAAGAGCTGGCA	0.746000													7	4					0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3239350	3239350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:3239350G>A	ENST00000217939.6	-	5	4530	c.4376C>T	c.(4375-4377)aCc>aTc	p.T1459I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1459						extracellular region		p.T1459I(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGATCAAGGGTGGTGGTTTC	0.488000													40	32					0	0	0.025465	0	0
WDR77	79084	broad.mit.edu	37	1	111983905	111983905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:111983905C>T	ENST00000235090.5	-	10	1182	c.976G>A	c.(976-978)Gtt>Att	p.V326I	WDR77_ENST00000411751.2_Missense_Mutation_p.V262I	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	326				LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411).	ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.V326I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCACAACGTGGTGGACG	0.537000													22	55					0	0	0.010504	0	0
MERTK	10461	broad.mit.edu	37	2	112779055	112779055	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112779055A>G	ENST00000295408.4	+	17	2503	c.2246A>G	c.(2245-2247)tAc>tGc	p.Y749C	MERTK_ENST00000421804.2_Missense_Mutation_p.Y749C|MERTK_ENST00000409780.1_Missense_Mutation_p.Y573C			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	749	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Y749C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAGAAGATTTACAGTGGCGAT	0.483000													42	122					0	0	0.011902	0	0
ZMYND8	23613	broad.mit.edu	37	20	45923508	45923508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:45923508C>T	ENST00000311275.7	-	5	662	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ZMYND8_ENST00000461685.1_Missense_Mutation_p.E157K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E132K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E132K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E164K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E137K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E157K|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E132K|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E157K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E137K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E132K|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E137K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	137							protein binding|zinc ion binding	p.E157K(1)|p.E157Q(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGATGCATTCTGCTACTGTA	0.383000													92	227					0	0	0.014410	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082700	97082700	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:97082700G>C	ENST00000335456.7	-	6	1133	c.1113C>G	c.(1111-1113)gtC>gtG	p.V371V	NUTM2F_ENST00000253262.4_Silent_p.V386V|NUTM2F_ENST00000341207.4_Silent_p.V371V					NUT family member 2F									p.V386V(2)|p.V252V(2)									TCTCCTCAGGGACCTTGGTCT	0.667000													30	40					0	0	0.013726	0	0
DOCK8	81704	broad.mit.edu	37	9	429848	429848	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:429848C>T	ENST00000432829.2	+	36	4732	c.4416C>T	c.(4414-4416)gcC>gcT	p.A1472A	DOCK8_ENST00000453981.1_Silent_p.A1540A|DOCK8_ENST00000469391.1_Silent_p.A1440A|DOCK8_ENST00000382329.1_Silent_p.A1007A	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1540	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A1472A(1)|p.A1540A(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTTTGGAGCCACCAGTGTAA	0.468000													18	27					0	0	0.004990	0	0
GNL3L	54552	broad.mit.edu	37	X	54569458	54569458	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:54569458A>G	ENST00000336470.4	+	6	516	c.377A>G	c.(376-378)aAg>aGg	p.K126R	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.K126R	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	126					ribosome biogenesis	nucleolus	GTP binding	p.K126R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCTTATTACAAGGAGTTCCGT	0.453000													23	15					0	0	0.016522	0	0
COL27A1	85301	broad.mit.edu	37	9	117008161	117008161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:117008161C>G	ENST00000356083.3	+	24	3341	c.2950C>G	c.(2950-2952)Cct>Gct	p.P984A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	984	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P984A(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCAGGGGATCCTGGTCGGCC	0.572000													4	148					0	0	0.014758	0	0
ITGA11	22801	broad.mit.edu	37	15	68600001	68600001	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:68600001A>G	ENST00000423218.2	-	27	3306	c.3211T>C	c.(3211-3213)Tgc>Cgc	p.C1071R	ITGA11_ENST00000315757.7_Missense_Mutation_p.C1070R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1070					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C1070R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CGTATATTGCAGTTGATGGAG	0.542000													62	22					0	0	0.014410	0	0
DENND5B	160518	broad.mit.edu	37	12	31613259	31613259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:31613259G>A	ENST00000389082.5	-	4	1225	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Nonsense_Mutation_p.Q356*|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.Q356*|DENND5B_ENST00000354285.4_Nonsense_Mutation_p.Q343*	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	321	DENN.					integral to membrane		p.Q321*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGTTGCCATTGAAATGGGAAC	0.438000													23	33					0	0	0.014323	0	0
DOCK8	81704	broad.mit.edu	37	9	422091	422091	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:422091G>A	ENST00000432829.2	+	33	4309	c.3993G>A	c.(3991-3993)aaG>aaA	p.K1331K	DOCK8_ENST00000453981.1_Silent_p.K1399K|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000469391.1_Silent_p.K1299K|DOCK8_ENST00000382329.1_Silent_p.K866K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1399	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K1399K(1)|p.K1331K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAGATGGAAGAAAGAGCAGA	0.398000													17	24					0	0	0.012319	0	0
XIRP2	129446	broad.mit.edu	37	2	168106305	168106305	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:168106305C>T	ENST00000409195.1	+	9	8492	c.8403C>T	c.(8401-8403)ccC>ccT	p.P2801P	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.P2801P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2579P|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2626					actin cytoskeleton organization	cell junction	actin binding	p.P2801P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATGGTTCCCAGGAAGCAAA	0.403000													12	62					0	0	0.013537	0	0
FLNB	2317	broad.mit.edu	37	3	58109122	58109122	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:58109122C>T	ENST00000357272.4	+	21	3594	c.3429C>T	c.(3427-3429)ctC>ctT	p.L1143L	FLNB_ENST00000358537.3_Silent_p.L1143L|FLNB_ENST00000295956.4_Silent_p.L1143L|FLNB_ENST00000348383.5_Silent_p.L1143L|FLNB_ENST00000490882.1_Silent_p.L1143L|FLNB_ENST00000429972.2_Silent_p.L1143L|FLNB_ENST00000493452.1_Silent_p.L974L|FLNB_ENST00000419752.2_Silent_p.L974L			O75369	FLNB_HUMAN	filamin B, beta	1143	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.L1143L(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCCAGGTCTCGAGCACGGGA	0.592000													57	119					0	0	0.014410	0	0
C5orf48	389320	broad.mit.edu	37	5	125968328	125968328	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:125968328C>T	ENST00000357147.3	+	2	190	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	59								p.F59F(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						ACATGATATTCAGGAATGTGA	0.373000													14	47					0	0	0.016723	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691140	129691140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:129691140G>A	ENST00000358303.4	-	1	151	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R23C|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R23C|ZC3HC1_ENST00000311873.5_5'UTR	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	23					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	p.R23C(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCTGGGGAGCGAACTACTGCA	0.597000													12	69					0	0	0.010729	0	0
ENTPD7	57089	broad.mit.edu	37	10	101445633	101445633	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:101445633G>A	ENST00000370489.4	+	6	811	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	211						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.V211V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AAGCAGAAGTGATCTCTGGGA	0.468000													39	57					0	0	0.025465	0	0
TPCN2	219931	broad.mit.edu	37	11	68838874	68838874	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:68838874C>T	ENST00000294309.3	+	10	1047	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R316W	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	316					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	p.R316W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGTCAGTTCCGGGGCTACCT	0.602000													5	12					0	0	0.014758	0	0
GABRB2	2561	broad.mit.edu	37	5	160761889	160761889	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:160761889G>T	ENST00000274547.2	-	8	919	c.702C>A	c.(700-702)ctC>ctA	p.L234L	GABRB2_ENST00000393959.1_Silent_p.L234L|GABRB2_ENST00000353437.6_Silent_p.L234L|GABRB2_ENST00000517547.1_Silent_p.L74L|GABRB2_ENST00000517901.1_Silent_p.L171L|GABRB2_ENST00000520240.1_Silent_p.L234L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	234					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.L234L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCTTAAAGCTGAGGGATAACC	0.368000													16	54					1.02788e-11	1.07121e-11	0.004990	1	0
UGDH	7358	broad.mit.edu	37	4	39506886	39506886	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:39506886G>A	ENST00000316423.6	-	9	1484	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	UGDH_ENST00000501493.2_Missense_Mutation_p.S314F|UGDH_ENST00000507089.1_Missense_Mutation_p.S284F|UGDH_ENST00000506179.1_Missense_Mutation_p.S381F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	381					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.S381F(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	ACCTGGATGAGAAAGATCCAC	0.358000													20	111					0	0	0.010504	0	0
LAX1	54900	broad.mit.edu	37	1	203743331	203743331	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:203743331A>G	ENST00000442561.2	+	5	1109	c.719A>G	c.(718-720)gAc>gGc	p.D240G	LAX1_ENST00000367217.5_Missense_Mutation_p.D224G|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	240					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D240G(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGCTGGTGACTGCACCAGT	0.473000													24	44					0	0	0.024334	0	0
AIMP1	9255	broad.mit.edu	37	4	107249297	107249297	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:107249297G>A	ENST00000394701.4	+	4	401	c.360G>A	c.(358-360)gtG>gtA	p.V120V	AIMP1_ENST00000358008.3_Silent_p.V96V|AIMP1_ENST00000442366.1_Silent_p.V96V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	96	Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	p.V96V(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTGAAAATGTGATACAGTCTA	0.363000													22	65					0	0	0.012319	0	0
MIER1	57708	broad.mit.edu	37	1	67411833	67411833	+	Splice_Site	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:67411833G>T	ENST00000357692.2	+	5	343	c.86G>T	c.(85-87)gGa>gTa	p.G29V	MIER1_ENST00000401042.3_Splice_Site_p.G12V|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371016.1_Splice_Site_p.G29V|MIER1_ENST00000371018.3_Splice_Site_p.G29V|MIER1_ENST00000371012.2_Splice_Site_p.G29V|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Splice_Site_p.G65V|MIER1_ENST00000371014.1_Splice_Site_p.G65V|MIER1_ENST00000355356.3_Splice_Site_p.G12V	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	36					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.?(2)|p.G12V(1)|p.G65V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCCTTACCAGGAGGTTCAGCA	0.323000													28	89					1.99505e-19	2.10379e-19	0.012213	1	0
EEF2	1938	broad.mit.edu	37	19	3984133	3984133	+	Splice_Site	SNP	C	C	G	rs113603517		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3984133C>G	ENST00000309311.6	-	2	307		c.e2+1		EEF2_ENST00000600720.1_Splice_Site	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2							cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.?(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGAGCTCACGTTGACTTGA	0.657000													17	39					0	0	0.006122	0	0
THBS2	7058	broad.mit.edu	37	6	169648940	169648940	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:169648940C>T	ENST00000366787.3	-	4	430	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	61	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.D61N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGATGTAGTCAAAGCGCACG	0.602000													20	26					0	0	0.008871	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219559	134219559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:134219559G>A	ENST00000305233.5	+	2	1614	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	519	PWWP.							p.G519R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAAGGAGGACGGAGAGCCGTC	0.537000													16	84					0	0	0.028581	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032136	213032136	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:213032136C>T	ENST00000366971.4	+	1	540	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	114					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	p.F114F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TCCTGATCTTCAGCCTGTACT	0.637000													22	44					0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9071731	9071731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:9071731C>T	ENST00000397910.4	-	3	15918	c.15715G>A	c.(15715-15717)Gat>Aat	p.D5239N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5241	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D5239N(2)|p.D872N(1)		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						GTGGACTTATCATGGTCTGGG	0.478000													29	156					0	0	0.009535	0	0
PFKFB2	5208	broad.mit.edu	37	1	207228122	207228122	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207228122T>C	ENST00000367080.3	+	2	184	c.60T>C	c.(58-60)aaT>aaC	p.N20N	PFKFB2_ENST00000545806.1_5'UTR|PFKFB2_ENST00000367079.2_Silent_p.N20N|PFKFB2_ENST00000411990.2_5'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	20	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.N20N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AAACCCCAAATCTTCGAATGT	0.428000													7	30					0	0	0.003080	0	0
FAM81B	153643	broad.mit.edu	37	5	94728542	94728542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:94728542G>A	ENST00000283357.5	+	2	215	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	57								p.E57K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GACTGCAGAGGAACAGCCAGT	0.403000													13	21					0	0	0.006122	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	8064557	8064557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:8064557C>T	ENST00000439343.2	-	1	40	c.41G>A	c.(40-42)gGt>gAt	p.G14D	BLOC1S5_ENST00000543936.1_De_novo_Start_InFrame|EEF1E1-BLOC1S5_ENST00000397456.2_Intron|BLOC1S5_ENST00000397457.2_Missense_Mutation_p.G18D														p.G18D(1)									CTTGCTGCCACCGCCCGGGGC	0.667000													8	19					0	0	0.003080	0	0
TRIO	7204	broad.mit.edu	37	5	14389431	14389431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:14389431G>A	ENST00000344204.4	+	25	4006	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	TRIO_ENST00000537187.1_Missense_Mutation_p.E1328K|TRIO_ENST00000509967.2_Missense_Mutation_p.E1279K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1328	DH 1.				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.E1328K(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)					TGGCGTGGAAGAGATTCCACC	0.413000													12	30					0	0	0.024245	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563854	140563854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140563854G>A	ENST00000361016.2	+	1	2875	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		574	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E574K(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCACTGAGCTGGTGCC	0.692000													9	32					0	0	0.006214	0	0
EPHA1	2041	broad.mit.edu	37	7	143095738	143095738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:143095738G>A	ENST00000275815.3	-	6	1378	c.1292C>T	c.(1291-1293)tCt>tTt	p.S431F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	431	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S431F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCATGGCCAGAGCTGCCCAG	0.572000													10	60					0	0	0.006214	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854114	42854114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:42854114C>A	ENST00000455697.1	-	8	2278	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.E665*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.E665*|PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.E665*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.E665*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	665	Arg/His-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.E665*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GATCCCCTCTCTTCAAAATTG	0.483000													17	79					0.000566183	0.000575232	0.004990	1	0
DUSP16	80824	broad.mit.edu	37	12	12630725	12630725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630725G>A	ENST00000228862.2	-	7	1671	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	347					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S347L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGCTGCCTCTGAGGTAGCAGA	0.642000													27	46					0	0	0.008361	0	0
MYSM1	114803	broad.mit.edu	37	1	59142623	59142623	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:59142623C>T	ENST00000472487.1	-	9	1404	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	455	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L455L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTGCTCCTATCAATTCGAGGT	0.348000													53	110					0	0	0.014410	0	0
MBD6	114785	broad.mit.edu	37	12	57920498	57920498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57920498G>A	ENST00000355673.3	+	7	1926	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	MBD6_ENST00000431731.2_Missense_Mutation_p.E524K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	524	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding	p.E524K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCAGCCCTGAGCAGGGCCT	0.652000													24	84					0	0	0.016522	0	0
CHFR	55743	broad.mit.edu	37	12	133428210	133428210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:133428210G>A	ENST00000266880.7	-	13	1582	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	CHFR_ENST00000450056.2_Nonsense_Mutation_p.Q496*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.Q130*|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Nonsense_Mutation_p.Q416*|CHFR_ENST00000432561.2_Nonsense_Mutation_p.Q508*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.Q467*			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	508					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q467*(1)|p.Q508*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCACACTGCTGAGGGGCGACA	0.657000													54	163					0	0	0.014410	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33891861	33891861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:33891861G>A	ENST00000504830.1	-	1	436	c.101C>T	c.(100-102)cCg>cTg	p.P34L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P34L|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P34L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	34					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P34Q(4)|p.P34L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAGCGAACCGGGCCTGGCTG	0.527000										HNSCC(64;0.19)			42	133					0	0	0.014410	0	0
GRN	2896	broad.mit.edu	37	17	42429721	42429721	+	Missense_Mutation	SNP	G	G	C	rs63751698		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:42429721G>C	ENST00000053867.3	+	12	1488	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	GRN_ENST00000589265.1_Missense_Mutation_p.E319Q	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	476					signal transduction	extracellular space	cytokine activity|growth factor activity	p.E476Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTGTGCTGCGAGGATCGCCA	0.637000													6	28					0	0	0.021553	0	0
CHERP	10523	broad.mit.edu	37	19	16633881	16633881	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16633881C>T	ENST00000546361.2	-	11	2113	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Silent_p.L665L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	654	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.L654L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGGGGCCATCAGCCCAGCAG	0.617000													13	64					0	0	0.013537	0	0
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:50255994C>T	ENST00000338821.5	-	15	1820	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ATP9A_ENST00000402822.1_Missense_Mutation_p.R398Q|ATP9A_ENST00000311637.5_Missense_Mutation_p.R383Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R519Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGACTGGTCTCGGCCCACCAG	0.547000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	88					0	0	0.006320	0	0
CPZ	8532	broad.mit.edu	37	4	8602948	8602948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:8602948G>A	ENST00000360986.4	+	3	394	c.220G>A	c.(220-222)Gag>Aag	p.E74K	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E63K	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	74	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E74K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGGTGGTGGAGGCCAGCTC	0.647000													8	23					0	0	0.003080	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992597	96992597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:96992597G>A	ENST00000361124.4	+	1	663	c.252G>A	c.(250-252)tgG>tgA	p.W84*	ITPRIPL1_ENST00000439118.2_Nonsense_Mutation_p.W76*|ITPRIPL1_ENST00000542887.1_Nonsense_Mutation_p.W68*|ITPRIPL1_ENST00000536814.1_Nonsense_Mutation_p.W68*	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	76						integral to membrane		p.W84*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAACTTCTGGACAGGAGACA	0.577000													32	77					0	0	0.012213	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492525	25492525	+	RNA	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:25492525G>C	ENST00000364273.1	+	0	34					NR_003357.1																						TTGTTCTGAAGAGAGGTGATG	0.502000													58	292					0	0	0.014410	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416258	121416258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416258C>A	ENST00000393667.3	-	13	3222	c.3112G>T	c.(3112-3114)Gag>Tag	p.E1038*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E1033*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1033					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E1033*(1)|p.E1033Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCCCCTCTCAGTCTCACTG	0.343000													52	215					1.51926e-22	1.60969e-22	0.014410	1	0
FLOT2	2319	broad.mit.edu	37	17	27207618	27207618	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27207618C>T	ENST00000394906.2	-	13	1491		c.e13-1		FLOT2_ENST00000577789.1_Splice_Site|FLOT2_ENST00000585169.1_Splice_Site|FLOT2_ENST00000394908.4_Splice_Site			Q14254	FLOT2_HUMAN	flotillin 2						cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.?(1)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCAGGGGTATCTGCAAGGATG	0.627000													9	59					0	0	0.006214	0	0
B9D1	27077	broad.mit.edu	37	17	19251136	19251136	+	Missense_Mutation	SNP	C	C	T	rs148240978		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:19251136C>T	ENST00000477478.2	-	4	562	c.229G>A	c.(229-231)Gag>Aag	p.E77K	B9D1_ENST00000575403.1_Missense_Mutation_p.E77K|B9D1_ENST00000261499.4_Missense_Mutation_p.R101Q|B9D1_ENST00000461069.2_Missense_Mutation_p.R101Q|B9D1_ENST00000268841.6_Missense_Mutation_p.R101Q|B9D1_ENST00000395615.1_Missense_Mutation_p.R101Q|B9D1_ENST00000395616.3_Missense_Mutation_p.R101Q			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding	p.R101Q(1)		large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCATAGCCTCGAACCACATC	0.607000													8	35					0	0	0.004482	0	0
ATG4B	23192	broad.mit.edu	37	2	242598539	242598539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:242598539G>A	ENST00000405546.3	+	7	977	c.475G>A	c.(475-477)Gat>Aat	p.D159N	ATG4B_ENST00000402096.1_Missense_Mutation_p.D85N|ATG4B_ENST00000396411.3_Missense_Mutation_p.D85N|ATG4B_ENST00000474739.2_Missense_Mutation_p.D145N|ATG4B_ENST00000404914.3_Missense_Mutation_p.D159N			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	159					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.D159N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGCTGTCTTCGATACGTGGAG	0.468000													6	41					0	0	0.021553	0	0
HERC2P2	400322	broad.mit.edu	37	15	23283385	23283385	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:23283385G>A	ENST00000560464.1	-	0	5097																											ATATAATTCTGATAGCTGGAG	0.363000													3	19					0	0	0.004672	0	0
MYO1A	4640	broad.mit.edu	37	12	57436895	57436895	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57436895G>C	ENST00000442789.2	-	13	1346	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	MYO1A_ENST00000544473.1_Silent_p.L191L|MYO1A_ENST00000300119.3_Silent_p.L353L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	353	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.L353L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCCAGTCAAAGAGGCGGCTGT	0.547000													6	52					0	0	0.021553	0	0
PELI1	57162	broad.mit.edu	37	2	64335432	64335432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:64335432C>T	ENST00000358912.4	-	2	455	c.13G>A	c.(13-15)Gat>Aat	p.D5N	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	5					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		p.D5N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TTTTCTTGATCAGGAGAAAAC	0.383000													72	177					0	0	0.014410	0	0
KATNAL2	83473	broad.mit.edu	37	18	44626625	44626625	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:44626625G>A	ENST00000245121.5	+	14	1353	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	KATNAL2_ENST00000356157.7_Splice_Site_p.E459K	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	459						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.E387K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCTGTTTCAGGAGACTGAGGG	0.507000											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	35					0	0	0.021523	0	0
TACC2	10579	broad.mit.edu	37	10	123844346	123844346	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:123844346G>A	ENST00000369005.1	+	4	2671	c.2331G>A	c.(2329-2331)ggG>ggA	p.G777G	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.G777G|TACC2_ENST00000334433.3_Silent_p.G777G|TACC2_ENST00000515273.1_Silent_p.G777G|TACC2_ENST00000515603.1_Silent_p.G777G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	777						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.G777G(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCATGCTGGGGTGCCACATC	0.632000													40	64					0	0	0.009718	0	0
ANO8	57719	broad.mit.edu	37	19	17440786	17440786	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17440786G>A	ENST00000159087.4	-	11	1469	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	437	Leu-rich.					chloride channel complex	chloride channel activity	p.L437L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTTTGATGATGAGGTGCTTCT	0.622000													15	88					0	0	0.024245	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097505	85097505	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85097505C>T	ENST00000335459.5	-	2	718	c.513G>A	c.(511-513)atG>atA	p.M171I	TRABD2A_ENST00000409133.1_Missense_Mutation_p.M171I|TRABD2A_ENST00000409520.2_Missense_Mutation_p.M171I	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.M171I(2)									GGGAGTTGACCATGAGCATCA	0.582000													54	135					0	0	0.014410	0	0
DNMT3B	1789	broad.mit.edu	37	20	31376814	31376814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:31376814C>G	ENST00000328111.2	+	7	1130	c.809C>G	c.(808-810)tCc>tGc	p.S270C	DNMT3B_ENST00000344505.4_Missense_Mutation_p.S270C|DNMT3B_ENST00000375623.4_Missense_Mutation_p.S228C|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S228C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.S270C|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S282C|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S194C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S270C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	270	Interaction with DNMT1 and DNMT3A.|PWWP.		S -> P (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.S270C(1)|p.S282C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAAGTTCTCCGAGGTGAGT	0.607000													20	25					0	0	0.010504	0	0
FUBP1	8880	broad.mit.edu	37	1	78430866	78430866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:78430866G>A	ENST00000370767.1	-	8	610	c.523C>T	c.(523-525)Cct>Tct	p.P175S	FUBP1_ENST00000436586.2_Missense_Mutation_p.P196S|FUBP1_ENST00000370768.2_Missense_Mutation_p.P175S			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	175					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.P175S(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGGAAGCCAGGAGCTGGTCTT	0.418000			"""F, N"""		oligodendroglioma								30	141					0	0	0.009535	0	0
ABCC5	10057	broad.mit.edu	37	3	183700753	183700753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:183700753C>G	ENST00000334444.6	-	6	874	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.E212Q	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	212	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.E212Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGTTAGACTCTGTTGCCTGG	0.527000													22	126					0	0	0.016522	0	0
SGK2	10110	broad.mit.edu	37	20	42196637	42196637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:42196637G>C	ENST00000373100.1	+	6	686	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	SGK2_ENST00000423407.3_Missense_Mutation_p.E76Q|SGK2_ENST00000373077.1_Missense_Mutation_p.E76Q|SGK2_ENST00000426287.1_Missense_Mutation_p.E102Q|SGK2_ENST00000373092.3_Missense_Mutation_p.E76Q|SGK2_ENST00000341458.4_Missense_Mutation_p.E136Q			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	136					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.E136Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGAAGAAAGAGGTACCAGA	0.502000													9	59					0	0	0.008291	0	0
F5	2153	broad.mit.edu	37	1	169494148	169494148	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:169494148T>C	ENST00000367796.3	-	19	5933		c.e19-2		F5_ENST00000367797.3_Splice_Site			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCTACAGTCTATGAAAAACA	0.338000													40	91					0	0	0.025465	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	58					0.00909568	0.00917818	0.009096	1	0
OR4A47	403253	broad.mit.edu	37	11	48510885	48510885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:48510885C>G	ENST00000446524.1	+	1	617	c.541C>G	c.(541-543)Ccc>Gcc	p.P181A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGACATGTATCCCTTATTGAA	0.443000													15	280					0	0	0.020292	0	0
FGA	2243	broad.mit.edu	37	4	155507934	155507934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:155507934C>T	ENST00000302053.3	-	5	725	c.647G>A	c.(646-648)aGa>aAa	p.R216K	FGA_ENST00000403106.3_Missense_Mutation_p.R216K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	216				SR -> RS (in Ref. 9; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R216K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGCCTATCTCTAGAGGGAAG	0.448000													30	119					0	0	0.009535	0	0
LRIG2	9860	broad.mit.edu	37	1	113657463	113657463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113657463G>A	ENST00000361127.5	+	15	2693	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane		p.R832K(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TACCACATGAGAAGGAAAAAT	0.398000													20	96					0	0	0.008871	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415370	213415370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:213415370G>A	ENST00000366960.3	+	11	2701	c.2551G>A	c.(2551-2553)Gat>Aat	p.D851N	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D839N|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D554N|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D639N|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	851	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.D851N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGATCAGACTGATGATTTGGC	0.383000													64	173					0	0	0.014410	0	0
GTF2E2	2961	broad.mit.edu	37	8	30472223	30472223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:30472223G>A	ENST00000355904.4	-	4	550	c.268C>T	c.(268-270)Cag>Tag	p.Q90*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	90					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	p.Q90*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTCCTCGCTGATGCCGTGTC	0.358000													21	73					0	0	0.010504	0	0
CELSR1	9620	broad.mit.edu	37	22	46932099	46932099	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:46932099C>T	ENST00000262738.3	-	1	968	c.969G>A	c.(967-969)gtG>gtA	p.V323V	CELSR1_ENST00000395964.1_Silent_p.V323V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	323	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.V323V(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACGGCTTTCACCCTGAGGA	0.642000													7	62					0	0	0.001984	0	0
PKHD1	5314	broad.mit.edu	37	6	51908451	51908451	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:51908451G>A	ENST00000371117.3	-	26	3068	c.2793C>T	c.(2791-2793)ccC>ccT	p.P931P	PKHD1_ENST00000340994.4_Silent_p.P931P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	931	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.P931P(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATGGACACAGGGAGTTGACC	0.473000													37	34					0	0	0.017118	0	0
COL24A1	255631	broad.mit.edu	37	1	86426951	86426951	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:86426951A>T	ENST00000370571.2	-	24	2909	c.2543T>A	c.(2542-2544)aTt>aAt	p.I848N	COL24A1_ENST00000436319.1_Missense_Mutation_p.I848N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	848	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent	p.I848N(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATTTTTCCAATATTTCCTTG	0.289000													15	96					0	0	0.024245	0	0
ESYT1	23344	broad.mit.edu	37	12	56536448	56536448	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56536448C>T	ENST00000394048.5	+	26	3084	c.2820C>T	c.(2818-2820)ctC>ctT	p.L940L	ESYT1_ENST00000541590.1_Silent_p.L950L|ESYT1_ENST00000267113.4_Silent_p.L950L|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	940						integral to membrane		p.L940L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AACCAGAGCTCTCGGGGGGAC	0.602000													11	60					0	0	0.008291	0	0
CDHR2	54825	broad.mit.edu	37	5	176005373	176005373	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:176005373C>T	ENST00000510636.1	+	16	1856	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	CDHR2_ENST00000506348.1_Missense_Mutation_p.L528F|CDHR2_ENST00000261944.5_Missense_Mutation_p.L528F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	528	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.L528F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCAGACCTCTTCCAAGT	0.542000													4	8					0	0	0.014758	0	0
MS4A1	931	broad.mit.edu	37	11	60229875	60229875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:60229875G>A	ENST00000534668.1	+	2	317	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	MS4A1_ENST00000345732.4_Missense_Mutation_p.G10R|MS4A1_ENST00000389939.2_Missense_Mutation_p.G10R|MS4A1_ENST00000532073.1_Missense_Mutation_p.G10R|MS4A1_ENST00000528313.1_Missense_Mutation_p.G10R|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	10					B cell activation|immune response	integral to plasma membrane		p.G10R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TTCAGTAAATGGGACTTTCCC	0.433000													36	85					0	0	0.025465	0	0
NAGK	55577	broad.mit.edu	37	2	71298938	71298938	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:71298938C>T	ENST00000418807.3	+	3	347	c.183C>T	c.(181-183)atC>atT	p.I61I	NAGK_ENST00000443938.2_Silent_p.I112I|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000244204.6_Silent_p.I112I|NAGK_ENST00000443872.2_Intron|NAGK_ENST00000455662.2_Silent_p.I158I			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	112					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	p.I112I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CCGGCTCCATCGCCACAGCTA	0.547000													3	42					0	0	0.009096	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122174	18122174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:18122174C>G	ENST00000340650.3	-	1	677	c.664G>C	c.(664-666)Gag>Cag	p.E222Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	222					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E222Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGGTGGTCTCCACACCCCAA	0.552000													12	22					0	0	0.010729	0	0
ZNF816	125893	broad.mit.edu	37	19	53454109	53454109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53454109G>A	ENST00000357666.4	-	5	1219	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H307Y|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H307Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGTATGAAGTCTACGA	0.428000													152	185					0	0	0.014410	0	0
OS9	10956	broad.mit.edu	37	12	58114292	58114292	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:58114292C>T	ENST00000315970.7	+	14	1910	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	OS9_ENST00000389142.5_Silent_p.F553F|OS9_ENST00000551035.1_Silent_p.F536F|OS9_ENST00000257966.8_Silent_p.F569F|OS9_ENST00000413095.2_Silent_p.F362F|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Silent_p.F516F|OS9_ENST00000439210.2_Silent_p.F494F|OS9_ENST00000552285.1_Silent_p.F568F|OS9_ENST00000389146.6_Silent_p.F608F	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	623					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	p.F623F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGATCTTCTTCAATATCTTGG	0.557000													5	51					0	0	0.014758	0	0
BARX2	8538	broad.mit.edu	37	11	129246012	129246012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:129246012G>A	ENST00000281437.4	+	1	178	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	28								p.D28N(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TTTCATGATCGACGAGATCCT	0.617000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	131					0	0	0.014410	0	0
CDAN1	146059	broad.mit.edu	37	15	43022925	43022925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:43022925C>T	ENST00000356231.3	-	14	2068	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	682						integral to membrane	protein binding	p.R682Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCAGCCCTCGCTGCAGCAG	0.637000													7	15					0	0	0.003080	0	0
MYB	4602	broad.mit.edu	37	6	135521495	135521495	+	Missense_Mutation	SNP	G	G	A	rs113182184	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:135521495G>A	ENST00000341911.5	+	13	2091	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	MYB_ENST00000367814.4_Missense_Mutation_p.G510E|MYB_ENST00000533624.1_Missense_Mutation_p.G475E|MYB_ENST00000527615.1_Missense_Mutation_p.G510E|MYB_ENST00000525369.1_Missense_Mutation_p.G425E|MYB_ENST00000534121.1_Missense_Mutation_p.G615E|MYB_ENST00000316528.8_Missense_Mutation_p.G510E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.G628E|MYB_ENST00000442647.2_Missense_Mutation_p.G507E|MYB_ENST00000534044.1_Missense_Mutation_p.G510E	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.G631E(1)|p.G510E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATGAATCTGGAATTGTTGCT	0.428000			T	NFIB	adenoid cystic carcinoma								45	50					0	0	0.008740	0	0
MTX3	345778	broad.mit.edu	37	5	79284998	79284998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:79284998C>T	ENST00000512560.1	-	3	234	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	MTX3_ENST00000512528.1_Missense_Mutation_p.E100K|MTX3_ENST00000509852.1_Missense_Mutation_p.E100K	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	100					protein targeting to mitochondrion	mitochondrial outer membrane		p.E100K(1)|p.E39K(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGCTTCTCTTCGAGGAGAGCA	0.338000													8	14					0	0	0.006214	0	0
MPEG1	219972	broad.mit.edu	37	11	58978821	58978821	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58978821G>C	ENST00000361050.3	-	1	1603	c.1518C>G	c.(1516-1518)ctC>ctG	p.L506L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	506						integral to membrane		p.L506L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGTTTTCAAAGAGTCTCAGTG	0.512000													19	97					0	0	0.008871	0	0
TIMELESS	8914	broad.mit.edu	37	12	56816695	56816695	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56816695A>C	ENST00000229201.4	-	19	2525	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.L792V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	792					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.L792V(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCCAGAACAACAGCTCCACA	0.502000													47	102					0	0	0.011902	0	0
RPS9	6203	broad.mit.edu	37	19	54705081	54705081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:54705081G>C	ENST00000402367.1	+	2	144	c.29G>C	c.(28-30)cGc>cCc	p.R10P	RPS9_ENST00000391752.1_Missense_Mutation_p.R10P|RPS9_ENST00000441429.1_Missense_Mutation_p.R10P|RPS9_ENST00000302907.4_Missense_Mutation_p.R10P|RPS9_ENST00000391753.2_Missense_Mutation_p.R10P|RPS9_ENST00000391751.3_Missense_Mutation_p.R10P			P46781	RS9_HUMAN	ribosomal protein S9	10					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	p.R10P(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGGGTTTGTCGCAAAACTTAT	0.617000													22	48					0	0	0.016522	0	0
REN	5972	broad.mit.edu	37	1	204129688	204129688	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:204129688G>C	ENST00000367195.2	-	4	535	c.492C>G	c.(490-492)acC>acG	p.T164T	REN_ENST00000272190.8_Splice_Site_p.T164T			P00797	RENI_HUMAN	renin	164					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	p.T164T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCCAACTTACGGTGATGATGT	0.597000													14	41					0	0	0.016723	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818939	34818939	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:34818939G>A	ENST00000299505.6	+	6	1860	c.987G>A	c.(985-987)caG>caA	p.Q329Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	329								p.Q329Q(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGGAGGCAGACACCCCCGC	0.617000													42	107					0	0	0.009718	0	0
CHD2	1106	broad.mit.edu	37	15	93558043	93558043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:93558043C>T	ENST00000394196.4	+	37	5878	c.4810C>T	c.(4810-4812)Cag>Tag	p.Q1604*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q1604*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1604					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.Q1604*(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTTCACCCTCAGAAGCCTCA	0.532000													22	170					0	0	0.018920	0	0
KIAA1033	23325	broad.mit.edu	37	12	105558049	105558049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:105558049G>A	ENST00000332180.5	+	31	3405	c.3318G>A	c.(3316-3318)atG>atA	p.M1106I	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	1106					endosome transport	WASH complex		p.M1106I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TACAAACCATGAATCTCACTC	0.408000													14	52					0	0	0.016723	0	0
NMI	9111	broad.mit.edu	37	2	152127234	152127234	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:152127234T>C	ENST00000243346.5	-	8	1367	c.897A>G	c.(895-897)caA>caG	p.Q299Q		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	299					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	p.Q299Q(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CTATGTGAGGTTGACCTAGAG	0.348000													50	82					0	0	0.014410	0	0
ACOXL	55289	broad.mit.edu	37	2	111691109	111691109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:111691109G>A	ENST00000389811.4	+	12	1173	c.949G>A	c.(949-951)Gag>Aag	p.E317K	ACOXL_ENST00000439055.1_Missense_Mutation_p.E317K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	317					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.E317K(2)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCAGGGAAAGGAGCTGGTCAA	0.612000													7	56					0	0	0.001984	0	0
GATM	2628	broad.mit.edu	37	15	45654374	45654374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:45654374C>T	ENST00000396659.3	-	9	1544	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	402					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.G402E(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GAAGCCTCCTCCCAGGGAATT	0.498000													7	53					0	0	0.003080	0	0
FAM179B	23116	broad.mit.edu	37	14	45542646	45542646	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:45542646C>G	ENST00000361462.2	+	20	5387	c.5204C>G	c.(5203-5205)tCa>tGa	p.S1735*	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Nonsense_Mutation_p.S1682*			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1682							binding	p.S1682*(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTAAATTATCAAAAGCACTC	0.403000													19	58					0	0	0.012319	0	0
TKTL1	8277	broad.mit.edu	37	X	153524334	153524334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:153524334C>T	ENST00000369915.3	+	1	311	c.122C>T	c.(121-123)tCc>tTc	p.S41F	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	41					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.S41F(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					GCCACATGCTCCACGAGCTCC	0.622000													18	53					0	0	0.004990	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256711	69256711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:69256711C>T	ENST00000439696.2	-	2	857	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.A186T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	186					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A186T(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGCCCCGGCCAGGGCACGG	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	32					0	0	0.001984	0	0
ADSS	159	broad.mit.edu	37	1	244614999	244614999	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:244614999C>T	ENST00000366535.3	-	1	437	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	41	IMP binding (By similarity).				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.E41K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CCTTTGCCTTCGTCGCCCCAC	0.736000													4	9					0	0	0.014758	0	0
KIAA2018	205717	broad.mit.edu	37	3	113393710	113393710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:113393710C>T	ENST00000316407.4	-	3	426	c.16G>A	c.(16-18)Gag>Aag	p.E6K	KIAA2018_ENST00000491165.1_Missense_Mutation_p.E6K|KIAA2018_ENST00000478658.1_Missense_Mutation_p.E6K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	6					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E6K(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTCTCATTCTCTGTCATTTCT	0.383000													26	192					0	0	0.006320	0	0
FLG2	388698	broad.mit.edu	37	1	152327225	152327225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152327225C>T	ENST00000388718.5	-	3	3109	c.3037G>A	c.(3037-3039)Ggt>Agt	p.G1013S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1013	Ser-rich.						calcium ion binding|structural molecule activity	p.G1013S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGACCATAGCCAGAT	0.483000													167	367					0	0	0.014410	0	0
CHN2	1124	broad.mit.edu	37	7	29234571	29234571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:29234571G>A	ENST00000222792.6	+	1	544	c.14G>A	c.(13-15)aGc>aAc	p.S5N	CPVL_ENST00000409850.1_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.S5N|CHN2_ENST00000539406.1_Intron|CPVL_ENST00000488891.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.S5N|CHN2_ENST00000435288.2_Missense_Mutation_p.S5N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	5				MAASSN -> MRLL (in Ref. 1; AAA16836/ AAA19191).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.S5N(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						gcagcgTCCAGCAACTCCAGC	0.776000													7	18					0	0	0.006214	0	0
DDHD2	23259	broad.mit.edu	37	8	38090714	38090714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:38090714G>A	ENST00000397166.2	+	2	727	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	DDHD2_ENST00000520272.2_Missense_Mutation_p.E68K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	68	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.E68K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACAGCAGCTGGAAGAGGCATA	0.388000													18	76					0	0	0.006122	0	0
SLC30A6	55676	broad.mit.edu	37	2	32419049	32419049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32419049G>A	ENST00000282587.5	+	8	530	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	SLC30A6_ENST00000538303.1_Missense_Mutation_p.E136K|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E91K|SLC30A6_ENST00000435660.1_Missense_Mutation_p.E165K|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E205K	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	165						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	p.E165K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTATGTCTCAGAAGGTATGTT	0.313000													27	187					0	0	0.024334	0	0
COL22A1	169044	broad.mit.edu	37	8	139629181	139629181	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:139629181G>A	ENST00000303045.6	-	54	4292	c.3846C>T	c.(3844-3846)ggC>ggT	p.G1282G	COL22A1_ENST00000435777.1_Silent_p.G1262G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1282G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCAGAATCGCCTGTGTGTC	0.587000										HNSCC(7;0.00092)			64	37					0	0	0.014410	0	0
BTN2A1	11120	broad.mit.edu	37	6	26459743	26459743	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26459743C>T	ENST00000429381.1	+	3	329	c.117C>T	c.(115-117)atC>atT	p.I39I	BTN2A1_ENST00000469185.1_Silent_p.I39I|BTN2A1_ENST00000541522.1_5'UTR|BTN2A1_ENST00000312541.5_Silent_p.I39I			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	39	Ig-like V-type.				lipid metabolic process	integral to plasma membrane		p.I39I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATCCCATCTTGGCCACGG	0.522000													8	41					0	0	0.003080	0	0
AXIN1	8312	broad.mit.edu	37	16	339566	339566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:339566G>A	ENST00000262320.3	-	10	2707	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	AXIN1_ENST00000354866.3_Missense_Mutation_p.P743L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	779	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P779L(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637000													6	34					0	0	0.021553	0	0
DNAJC13	23317	broad.mit.edu	37	3	132185190	132185190	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:132185190G>A	ENST00000260818.6	+	19	2264	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	672							heat shock protein binding	p.E672E(1)|p.E55E(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCGTACCTGAGAAGGATGCTG	0.393000													14	121					0	0	0.020292	0	0
DSP	1832	broad.mit.edu	37	6	7581076	7581076	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7581076G>A	ENST00000379802.3	+	23	4994	c.4653G>A	c.(4651-4653)gtG>gtA	p.V1551V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1551	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.V1551V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGAGGACTGTGAAGGACCAGG	0.522000													47	80					0	0	0.014410	0	0
GPN2	54707	broad.mit.edu	37	1	27216404	27216404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27216404C>T	ENST00000374135.4	-	1	384	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	62							GTP binding	p.E62K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CCCACCAGCTCGCCCACGTCC	0.701000													34	10					0	0	0.021022	0	0
HMGB2	3148	broad.mit.edu	37	4	174254236	174254236	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:174254236C>A	ENST00000296503.5	-	3	1153	c.280G>T	c.(280-282)Gct>Tct	p.A94S	HMGB2_ENST00000438704.2_Missense_Mutation_p.A94S|HMGB2_ENST00000446922.2_Missense_Mutation_p.A94S			P26583	HMGB2_HUMAN	high mobility group box 2	94					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.A94S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTTAGGAGCATTGGGGTCC	0.403000													46	250					6.34439e-16	6.65862e-16	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179401935	179401935	+	Missense_Mutation	SNP	C	C	T	rs72648278		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179401935C>T	ENST00000589042.1	-	356	100125	c.99901G>A	c.(99901-99903)Gaa>Aaa	p.E33301K	TTN_ENST00000342992.6_Missense_Mutation_p.E30733K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24361K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24236K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24428K|TTN_ENST00000591111.1_Missense_Mutation_p.E31660K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31660	Ig-like 146.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E24236K(1)|p.E30731K(1)|p.E30733K(1)|p.E24428K(1)|p.E24361K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAGAGCTTCGATCACAATT	0.428000													4	30					0	0	0.014758	0	0
GPS2	2874	broad.mit.edu	37	17	7217707	7217707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7217707C>A	ENST00000380728.2	-	4	520	c.220G>T	c.(220-222)Gag>Tag	p.E74*	GPS2_ENST00000391950.3_Nonsense_Mutation_p.E74*|GPS2_ENST00000389167.5_Nonsense_Mutation_p.E74*|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	74					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.E74*(1)|p.E74delE(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AAAAGCTTCTCCTCCAACTTC	0.468000													34	79					1.61788e-16	1.70202e-16	0.012213	1	0
MIOX	55586	broad.mit.edu	37	22	50928201	50928201	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:50928201C>T	ENST00000395732.3	+	10	782	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	MIOX_ENST00000216075.6_Silent_p.C258C|MIOX_ENST00000395733.3_Missense_Mutation_p.P215S			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	0					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	p.C258C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACACCAAGTGCCCGGACCTGC	0.642000													28	56					0	0	0.012213	0	0
ARID1B	57492	broad.mit.edu	37	6	157502230	157502230	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:157502230C>T	ENST00000346085.5	+	12	3264	c.3263C>T	c.(3262-3264)tCa>tTa	p.S1088L	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.S1075L|ARID1B_ENST00000275248.4_Missense_Mutation_p.S1070L|ARID1B_ENST00000367148.1_Missense_Mutation_p.S1128L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1075	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.S1070L(1)|p.S1088L(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTCCTGTCTCAAGTCTGCCT	0.562000													19	21					0	0	0.010504	0	0
TNNI3	7137	broad.mit.edu	37	19	55667621	55667621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:55667621C>T	ENST00000344887.5	-	5	372	c.230G>A	c.(229-231)aGc>aAc	p.S77N	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.S52N|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	77	Involved in binding TNC.				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	p.S77N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCAGCGGGTGCTCAGAGCGCG	0.657000													4	16					0	0	0.014758	0	0
HDAC4	9759	broad.mit.edu	37	2	240111708	240111708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:240111708C>T	ENST00000345617.3	-	4	951	c.160G>A	c.(160-162)Gac>Aac	p.D54N	HDAC4_ENST00000541256.1_Missense_Mutation_p.D23N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	54					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.D54N(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AACTGGTGGTCCAGGCGCAGG	0.657000													18	9					0	0	0.007413	0	0
XDH	7498	broad.mit.edu	37	2	31572632	31572632	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:31572632G>A	ENST00000379416.3	-	26	2937	c.2889C>T	c.(2887-2889)ttC>ttT	p.F963F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	963					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.F963F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGGCAAGGTGAAACCCTCAA	0.498000													52	202					0	0	0.014410	0	0
FBXL7	23194	broad.mit.edu	37	5	15928098	15928098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:15928098C>T	ENST00000504595.1	+	3	708	c.227C>T	c.(226-228)tCc>tTc	p.S76F	FBXL7_ENST00000510662.1_Missense_Mutation_p.S29F|FBXL7_ENST00000329673.7_Missense_Mutation_p.S64F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	76					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S76F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCGTCCACCTCCTCGTCCTCC	0.657000													14	35					0	0	0.020292	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21780010	21780010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:21780010G>A	ENST00000206660.6	+	8	958	c.958G>A	c.(958-960)Gag>Aag	p.E320K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E293K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E293K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E320K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	320					response to stimulus|visual perception	cilium		p.E320K(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGCAGCCCATGAGGCCCTCCT	0.512000													5	11					0	0	0.014758	0	0
BUB1B	701	broad.mit.edu	37	15	40501871	40501871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:40501871C>T	ENST00000287598.6	+	17	2374	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R741C	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	727					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R727C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCACAGTATCGCAGACAGCT	0.418000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				25	145					0	0	0.027356	0	0
OGG1	4968	broad.mit.edu	37	3	9792844	9792844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:9792844C>T	ENST00000302036.7	+	2	696	c.353C>T	c.(352-354)tCc>tTc	p.S118F	OGG1_ENST00000349503.5_Missense_Mutation_p.S118F|OGG1_ENST00000339511.5_Missense_Mutation_p.S118F|OGG1_ENST00000344629.7_Missense_Mutation_p.S118F|OGG1_ENST00000449570.2_Missense_Mutation_p.S118F|OGG1_ENST00000383826.5_Missense_Mutation_p.S118F|OGG1_ENST00000302003.7_Missense_Mutation_p.S118F|OGG1_ENST00000302008.8_Missense_Mutation_p.S118F	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	118					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	p.S118F(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TCCGTGGACTCCCACTTCCAA	0.542000								Base excision repair (BER), DNA glycosylases					21	31					0	0	0.012319	0	0
DARS	1615	broad.mit.edu	37	2	136682034	136682034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:136682034G>A	ENST00000264161.4	-	8	814	c.599C>T	c.(598-600)tCt>tTt	p.S200F	DARS_ENST00000537273.1_Missense_Mutation_p.S100F	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	200					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	p.S200F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCAGATGCCAGACTGGAGACG	0.358000													26	36					0	0	0.027356	0	0
FBN3	84467	broad.mit.edu	37	19	8136970	8136970	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:8136970G>T	ENST00000600128.1	-	63	8464	c.8050C>A	c.(8050-8052)Cgg>Agg	p.R2684R	FBN3_ENST00000270509.2_Silent_p.R2684R|FBN3_ENST00000601739.1_Silent_p.R2684R			Q75N90	FBN3_HUMAN	fibrillin 3	2684						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2684R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCGGTCCCGAGGGGAGAGG	0.647000													37	142					2.2871e-25	2.42612e-25	0.007835	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137629	40137629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:40137629C>T	ENST00000278198.2	-	2	2177	c.214G>A	c.(214-216)Gat>Aat	p.D72N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.D72N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D72N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D72N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	72	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding	p.D72N(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGATGCCATCCGGAACCTCA	0.527000													24	46					0	0	0.021523	0	0
GPS2	2874	broad.mit.edu	37	17	7217447	7217447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7217447G>A	ENST00000380728.2	-	5	649	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q117*|GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q117*|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	117					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.Q117*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGCTCTGCTGGTATGCAGCT	0.507000													31	148					0	0	0.010818	0	0
DMBX1	127343	broad.mit.edu	37	1	46976269	46976269	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:46976269T>G	ENST00000371956.4	+	2	306	c.291T>G	c.(289-291)gaT>gaG	p.D97E	DMBX1_ENST00000360032.3_Missense_Mutation_p.D92E	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	97	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D97E(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTACCCAGATGTGGTGATGC	0.597000													26	35					0	0	0.006320	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227792	44227792	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:44227792G>T	ENST00000275015.5	-	5	1424	c.1425C>A	c.(1423-1425)gaC>gaA	p.D475E		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	475					cytoplasmic sequestering of transcription factor		protein binding	p.D475E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTCAGTCAGGTCCTGGGGCG	0.592000													12	51					3.07112e-06	3.14172e-06	0.010729	1	0
DNAI2	64446	broad.mit.edu	37	17	72301563	72301563	+	Missense_Mutation	SNP	C	C	T	rs143470009		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72301563C>T	ENST00000579490.1	+	8	1499	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	DNAI2_ENST00000311014.6_Missense_Mutation_p.S398L|DNAI2_ENST00000582036.1_Missense_Mutation_p.S398L|DNAI2_ENST00000307504.5_Missense_Mutation_p.S255L|DNAI2_ENST00000446837.2_Missense_Mutation_p.S398L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	398					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.S398L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCCGGGAATCGTCCATCATG	0.622000									Kartagener syndrome				11	17					0	0	0.008291	0	0
USP39	10713	broad.mit.edu	37	2	85857963	85857963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85857963G>A	ENST00000323701.6	+	6	853	c.843G>A	c.(841-843)atG>atA	p.M281I	USP39_ENST00000409470.1_Missense_Mutation_p.M281I|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.M281I|USP39_ENST00000409766.3_Missense_Mutation_p.M281I|USP39_ENST00000450066.2_Missense_Mutation_p.M178I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	281					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.M281I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAGAGCTGATGAGAAAGCTCT	0.448000													89	216					0	0	0.014410	0	0
UBR4	23352	broad.mit.edu	37	1	19487565	19487565	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:19487565A>G	ENST00000375267.2	-	38	5255	c.5252T>C	c.(5251-5253)aTt>aCt	p.I1751T	UBR4_ENST00000375217.2_Missense_Mutation_p.I1751T|UBR4_ENST00000375226.2_Missense_Mutation_p.I1751T|UBR4_ENST00000375254.3_Missense_Mutation_p.I1751T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1751					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.I1751T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTCTCTGAAATCCTGGGTTC	0.517000													6	92					0	0	0.021553	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121701184	121701184	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:121701184G>T	ENST00000393386.2	+	30	7269	c.6858G>T	c.(6856-6858)agG>agT	p.R2286S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1419S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2286					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.R2286S(1)|p.Q2286H(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAGCACAAGGCAGGAAGAGA	0.443000													41	50					8.16277e-20	8.61787e-20	0.027894	1	0
EFNB3	1949	broad.mit.edu	37	17	7612706	7612706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7612706G>A	ENST00000226091.2	+	5	1232	c.835G>A	c.(835-837)Ggt>Agt	p.G279S		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	279					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	p.G279S(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGCCTGGGGGGTGGAGGTGG	0.697000													8	27					0	0	0.003080	0	0
MIER1	57708	broad.mit.edu	37	1	67411832	67411832	+	Splice_Site	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:67411832G>T	ENST00000357692.2	+	5	342		c.e5-1		MIER1_ENST00000401042.3_Splice_Site|MIER1_ENST00000479067.1_Splice_Site|MIER1_ENST00000371016.1_Splice_Site|MIER1_ENST00000371018.3_Splice_Site|MIER1_ENST00000371012.2_Splice_Site|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Splice_Site|MIER1_ENST00000371014.1_Splice_Site|MIER1_ENST00000355356.3_Splice_Site	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.?(4)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTCCTTACCAGGAGGTTCAGC	0.318000													26	90					1.30897e-18	1.37868e-18	0.009535	1	0
SRM	6723	broad.mit.edu	37	1	11115915	11115915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:11115915C>T	ENST00000376957.2	-	6	768	c.688G>A	c.(688-690)Gtg>Atg	p.V230M		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	230					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	p.V230M(1)		large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TAGGCCACCACGGGGAACAGG	0.642000													3	24					0	0	0.014758	0	0
WDR62	284403	broad.mit.edu	37	19	36591653	36591653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:36591653G>A	ENST00000401500.2	+	23	2778	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	WDR62_ENST00000270301.7_Missense_Mutation_p.E915K	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	915					cerebral cortex development	nucleus		p.E915K(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCATAGTCAGAGAGTCCCCA	0.627000													17	103					0	0	0.010504	0	0
FRAS1	80144	broad.mit.edu	37	4	79238534	79238534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:79238534C>G	ENST00000264895.6	+	17	2272	c.1832C>G	c.(1831-1833)tCa>tGa	p.S611*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.S611*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.S611*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	611					cell communication	integral to membrane|plasma membrane	metal ion binding	p.S611*(3)		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						TGTCATAACTCATGTGCCAGC	0.607000													16	83					0	0	0.004990	0	0
STAB1	23166	broad.mit.edu	37	3	52538540	52538540	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:52538540C>A	ENST00000321725.6	+	11	1290	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	405	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S405Y(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCGTCTCCTCCTTCTCC	0.642000													13	60					7.93312e-07	8.14357e-07	0.020292	1	0
NBN	4683	broad.mit.edu	37	8	90955531	90955531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:90955531G>A	ENST00000265433.3	-	14	2288	c.2134C>T	c.(2134-2136)Cat>Tat	p.H712Y	NBN_ENST00000409330.1_Missense_Mutation_p.H630Y	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	712					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.H712Y(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTCGAGCATGATGAGCTATT	0.393000								Homologous recombination					114	87					0	0	0.014410	0	0
RAPH1	65059	broad.mit.edu	37	2	204324748	204324748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:204324748C>G	ENST00000319170.5	-	7	1273	c.974G>C	c.(973-975)aGa>aCa	p.R325T	RAPH1_ENST00000374488.2_Missense_Mutation_p.R350T|RAPH1_ENST00000308091.4_Missense_Mutation_p.R377T|RAPH1_ENST00000453034.1_Missense_Mutation_p.R377T|RAPH1_ENST00000419464.1_Missense_Mutation_p.R325T|RAPH1_ENST00000457812.1_Missense_Mutation_p.R325T|RAPH1_ENST00000423104.1_Missense_Mutation_p.R352T|RAPH1_ENST00000374489.2_Missense_Mutation_p.R352T|RAPH1_ENST00000374493.3_Missense_Mutation_p.R377T|RAPH1_ENST00000439222.1_Missense_Mutation_p.R350T|RAPH1_ENST00000418114.1_Missense_Mutation_p.R325T	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	325	Ras-associating.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		p.R377T(1)|p.R325T(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCAAAGATTCTCTCTGTCCC	0.318000													34	69					0	0	0.015359	0	0
OTOP2	92736	broad.mit.edu	37	17	72929508	72929508	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72929508C>T	ENST00000331427.4	+	7	1649	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	OTOP2_ENST00000580223.1_Silent_p.F519F	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	519						integral to membrane		p.F519F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCCTCATTTCAGCAACACAG	0.572000													20	77					0	0	0.018920	0	0
LPXN	9404	broad.mit.edu	37	11	58322349	58322349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58322349C>T	ENST00000528954.1	-	4	417	c.298G>A	c.(298-300)Gag>Aag	p.E100K	LPXN_ENST00000395074.2_Missense_Mutation_p.E95K|LPXN_ENST00000528489.1_Missense_Mutation_p.E75K	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	95					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	p.E100K(1)|p.E95K(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCCATGAGCTCATCCAACTGA	0.498000													4	61					0	0	0.014758	0	0
TAOK2	9344	broad.mit.edu	37	16	29998037	29998037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:29998037G>A	ENST00000308893.4	+	16	3487	c.2444G>A	c.(2443-2445)aGg>aAg	p.R815K	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R642K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	815	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.R815K(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AAGCAGCAGAGGATTCTGGGG	0.552000													10	76					0	0	0.008291	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913025	111913025	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:111913025C>T	ENST00000368761.5	-	2	743	c.265G>A	c.(265-267)Gag>Aag	p.E89K	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.E98K|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E89K	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	98					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.E98K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCACTGTCCTCCAGAACTTGA	0.567000													37	55					0	0	0.019004	0	0
PDE7B	27115	broad.mit.edu	37	6	136502427	136502427	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:136502427G>C	ENST00000308191.6	+	11	1314	c.1011G>C	c.(1009-1011)tgG>tgC	p.W337C	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	337	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.W337C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCAAGCAGTGGAGTGAAAGGG	0.438000													25	119					0	0	0.024334	0	0
GYS1	2997	broad.mit.edu	37	19	49481249	49481249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49481249G>A	ENST00000323798.3	-	10	1436	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	GYS1_ENST00000544287.1_Missense_Mutation_p.P47S|GYS1_ENST00000263276.6_Missense_Mutation_p.P350S|GYS1_ENST00000541188.1_Missense_Mutation_p.P334S|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	p.P414S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTCATGTCGGGAAGGCTCCCA	0.542000													66	89					0	0	0.014410	0	0
USP9Y	8287	broad.mit.edu	37	Y	14832567	14832567	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrY:14832567C>A	ENST00000338981.3	+	4	1087	c.142C>A	c.(142-144)Cct>Act	p.P48T	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	48					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P48T(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCAACTCCTCCTCCAGAGGA	0.403000													25	28					6.36457e-07	6.54096e-07	0.021523	1	0
DGKI	9162	broad.mit.edu	37	7	137075986	137075986	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:137075986C>A	ENST00000453654.2	-	33	2724	c.2185G>T	c.(2185-2187)Gac>Tac	p.D729Y	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.D1042Y|DGKI_ENST00000424189.2_Missense_Mutation_p.D1073Y|DGKI_ENST00000288490.5_Missense_Mutation_p.D1060Y			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.D1060Y(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTTCCAGGTCCTCATGGCCA	0.527000													26	115					2.12542e-12	2.22021e-12	0.006320	1	0
RDX	5962	broad.mit.edu	37	11	110124732	110124732	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:110124732T>C	ENST00000343115.4	-	9	1217	c.898A>G	c.(898-900)Att>Gtt	p.I300V	RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.I300V|RDX_ENST00000405097.1_Missense_Mutation_p.I300V|RDX_ENST00000544551.1_Missense_Mutation_p.I164V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	300					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	p.I300V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTACTTCAATAGTATCAGGC	0.408000													32	95					0	0	0.008361	0	0
ATG2A	23130	broad.mit.edu	37	11	64668054	64668054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:64668054G>C	ENST00000421419.2	-	31	4496	c.4382C>G	c.(4381-4383)tCt>tGt	p.S1461C	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1459C			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1459							protein binding	p.S1459C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTTGGGGCCAGAGCAGCGGGA	0.667000													10	45					0	0	0.008291	0	0
SYTL1	84958	broad.mit.edu	37	1	27675622	27675622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27675622G>A	ENST00000543823.1	+	5	973	c.511G>A	c.(511-513)Gag>Aag	p.E171K	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.E159K			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	171					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	p.E159K(1)|p.E171K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGATCCTGAGGAGGCGTCCCA	0.617000													20	53					0	0	0.007413	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699508	17699508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:17699508C>T	ENST00000399080.2	-	1	198	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	59								p.E59K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTCCGCCTCAGACAAGCGA	0.547000													40	124					0	0	0.027894	0	0
GNAS	2778	broad.mit.edu	37	20	57480468	57480468	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:57480468G>C	ENST00000371100.4	+	6	2944	c.2392G>C	c.(2392-2394)Gag>Cag	p.E798Q	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.E141Q|GNAS_ENST00000371085.3_Missense_Mutation_p.E155Q|GNAS_ENST00000371102.4_Missense_Mutation_p.E784Q|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.E141Q|GNAS_ENST00000354359.7_Missense_Mutation_p.E156Q|GNAS_ENST00000265620.7_Missense_Mutation_p.E140Q|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	155					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.E798Q(1)|p.E155Q(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGCTCTGTGGGAGGATGAAGG	0.473000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	64					0	0	0.006214	0	0
MERTK	10461	broad.mit.edu	37	2	112733015	112733015	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112733015G>A	ENST00000295408.4	+	7	1367	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	MERTK_ENST00000421804.2_Silent_p.V370V|MERTK_ENST00000409780.1_Silent_p.V194V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	370	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V370V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGTCTGCAGTGAGCCCTTGGA	0.483000													43	97					0	0	0.013114	0	0
APH1A	51107	broad.mit.edu	37	1	150240466	150240466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:150240466C>T	ENST00000360244.4	-	2	667	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.V59M|APH1A_ENST00000461320.1_Intron	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	59					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	p.V59M(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGGTCGGTCACATGGACCAAG	0.542000													29	49					0	0	0.006320	0	0
RANBP2	5903	broad.mit.edu	37	2	109398587	109398587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:109398587G>A	ENST00000283195.6	+	27	8890	c.8764G>A	c.(8764-8766)Gaa>Aaa	p.E2922K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2922	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.E2922K(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTATAGGTAGAAGTAAAATC	0.353000													12	88					0	0	0.013537	0	0
KALRN	8997	broad.mit.edu	37	3	124165699	124165699	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:124165699G>A	ENST00000360013.3	+	21	3640	c.3513G>A	c.(3511-3513)ctG>ctA	p.L1171L	KALRN_ENST00000240874.3_Silent_p.L1171L|KALRN_ENST00000460856.1_Silent_p.L1162L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1171					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L1171L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACTGCTGAAAGAATATG	0.502000													71	137					0	0	0.014410	0	0
EGR3	1960	broad.mit.edu	37	8	22548114	22548114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:22548114C>G	ENST00000317216.2	-	2	1393	c.1036G>C	c.(1036-1038)Gac>Cac	p.D346H	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.D308H|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	346					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D346H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TTGCGCTCGTCGCTGCGCGCA	0.647000													11	39					0	0	0.024245	0	0
CAGE1	285782	broad.mit.edu	37	6	7373335	7373335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7373335C>G	ENST00000502583.1	-	5	2281	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	CAGE1_ENST00000379918.4_Missense_Mutation_p.E573Q|CAGE1_ENST00000512086.1_Missense_Mutation_p.E573Q|CAGE1_ENST00000338150.4_Missense_Mutation_p.E573Q|CAGE1_ENST00000296742.7_Missense_Mutation_p.E437Q	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	573								p.E573Q(2)|p.E437Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AAGACTTCCTCTAATTGATCC	0.348000													7	59					0	0	0.001984	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044731	47044731	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:47044731G>A	ENST00000450053.3	+	35	5831	c.5652G>A	c.(5650-5652)gtG>gtA	p.V1884V	NBEAL2_ENST00000292309.5_Silent_p.V1700V|NBEAL2_ENST00000383740.2_Silent_p.V163V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1884							binding	p.V1261V(1)|p.V1884V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGCCAAAGTGAGCACCCCAC	0.637000													4	32					0	0	0.014758	0	0
BIRC6	57448	broad.mit.edu	37	2	32740283	32740283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32740283G>A	ENST00000421745.2	+	55	10929	c.10795G>A	c.(10795-10797)Gca>Aca	p.A3599T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3599					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3571T(1)|p.A3599T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTAAAAATGCACAAGCACC	0.408000													12	104					0	0	0.013537	0	0
THBS3	7059	broad.mit.edu	37	1	155177629	155177629	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:155177629G>A	ENST00000368378.3	-	1	59	c.39C>T	c.(37-39)ctC>ctT	p.L13L	THBS3_ENST00000486260.1_Intron|THBS3_ENST00000457183.2_Silent_p.L13L|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	13					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.L13L(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCAAAGGAGGAGAAGAGCCA	0.607000													9	52					0	0	0.006214	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414092	121414092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121414092C>G	ENST00000393667.3	-	13	5388	c.5278G>C	c.(5278-5280)Gag>Cag	p.E1760Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1755Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1755					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E1755Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGAACCTCTTCACTTAGA	0.383000													88	329					0	0	0.014410	0	0
C3orf58	205428	broad.mit.edu	37	3	143691397	143691397	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:143691397G>A	ENST00000315691.3	+	1	758	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	75						COPI vesicle coat|extracellular region		p.E75K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTGGTATTCGAGGCGTGGGG	0.672000													24	51					0	0	0.006320	0	0
ZNF239	8187	broad.mit.edu	37	10	44052855	44052855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:44052855G>A	ENST00000306006.6	-	2	1325	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	ZNF239_ENST00000374446.2_Missense_Mutation_p.H225Y|ZNF239_ENST00000535642.1_Missense_Mutation_p.H225Y|ZNF239_ENST00000426961.1_Missense_Mutation_p.H225Y	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.H225Y(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTCTCTGATGAAGTAGTAGC	0.458000													28	223					0	0	0.027356	0	0
RRAD	6236	broad.mit.edu	37	16	66957559	66957559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:66957559G>A	ENST00000299759.6	-	4	759	c.509C>T	c.(508-510)tCa>tTa	p.S170L	RRAD_ENST00000420652.1_Missense_Mutation_p.S170L			P55042	RAD_HUMAN	Ras-related associated with diabetes	170					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.S170L(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GTCCGTCACTGAGTACACAAT	0.607000													22	69					0	0	0.016522	0	0
ZNF829	374899	broad.mit.edu	37	19	37382767	37382767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:37382767G>C	ENST00000520965.1	-	6	1235	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Nonsense_Mutation_p.S309*	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S309*(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAAGCCTTGAGTGTTGAGT	0.383000													18	216					0	0	0.004990	0	0
SPATS2	65244	broad.mit.edu	37	12	49918549	49918549	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49918549C>T	ENST00000553127.1	+	14	1709	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	SPATS2_ENST00000321898.6_Missense_Mutation_p.S399F|SPATS2_ENST00000552918.1_Missense_Mutation_p.S399F			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	399	Ser-rich.					cytoplasm		p.S399F(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGATGCCTCTGCTGCTTCC	0.493000													63	136					0	0	0.014410	0	0
FAM179B	23116	broad.mit.edu	37	14	45433564	45433564	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:45433564G>A	ENST00000361462.2	+	1	2123	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.R647Q|FAM179B_ENST00000361577.3_Missense_Mutation_p.R647Q			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	647							binding	p.R647Q(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATCTGTACCCGAAGGGTATTA	0.443000													16	44					0	0	0.024245	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985184	67985184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67985184C>T	ENST00000422611.2	-	8	1201	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	SLC12A4_ENST00000572037.1_Missense_Mutation_p.E338K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E355K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E386K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E386K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E380K|SLC12A4_ENST00000316341.3_Missense_Mutation_p.E386K	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	386					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	p.E386K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACCCTTCTCCAGGTAGGCG	0.632000													22	76					0	0	0.014323	0	0
RAP1B	5908	broad.mit.edu	37	12	69044231	69044231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:69044231G>C	ENST00000250559.9	+	3	340	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000341355.5_Missense_Mutation_p.E37Q|RAP1B_ENST00000542145.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000543697.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000393436.5_Missense_Mutation_p.E37Q|RAP1B_ENST00000537460.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000540209.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000539091.1_Intron	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	37					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	p.E37Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCCTACGATAGAAGATTCTTA	0.234000													6	50					0	0	0.003080	0	0
CHD5	26038	broad.mit.edu	37	1	6173059	6173059	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6173059C>G	ENST00000262450.3	-	34	5012		c.e34-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.?(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCACCTCCTCTGCAAGAAAA	0.562000													15	66					0	0	0.020292	0	0
OXTR	5021	broad.mit.edu	37	3	8809175	8809175	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:8809175G>A	ENST00000316793.3	-	3	1323	c.699C>T	c.(697-699)ctC>ctT	p.L233L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	233					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	p.L233L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CAGCGGTCTTGAGCCGCAAGT	0.657000													4	14					0	0	0.009096	0	0
SAMD15	161394	broad.mit.edu	37	14	77846794	77846794	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:77846794G>T	ENST00000216471.4	+	2	2044	c.1758G>T	c.(1756-1758)caG>caT	p.Q586H	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	586	SAM.							p.Q586H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTCCCTCAGATGGGGATAA	0.423000													12	28					1.61879e-10	1.68309e-10	0.013537	1	0
GAK	2580	broad.mit.edu	37	4	861130	861130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:861130G>A	ENST00000314167.4	-	21	2596	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S750L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	829					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.S829L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTTCATCTGACACCTCACT	0.617000													23	114					0	0	0.027356	0	0
CCL15	6359	broad.mit.edu	37	17	34325917	34325917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:34325917G>A	ENST00000354059.4	-	2	673	c.121C>T	c.(121-123)Cca>Tca	p.P41S	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.P41S	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	41					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.P41S(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAACTACTGGATTTTCCAGT	0.438000													41	70					0	0	0.011902	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213121	35213121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:35213121C>T	ENST00000274938.7	+	19	2518	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R856C	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	840	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.R840C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCACCCAAGCGCAAGATCCT	0.557000													20	83					0	0	0.008871	0	0
ASUN	55726	broad.mit.edu	37	12	27067466	27067466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:27067466C>G	ENST00000261191.7	-	12	1830	c.1294G>C	c.(1294-1296)Gac>Cac	p.D432H	ASUN_ENST00000539625.1_Missense_Mutation_p.D331H	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	432					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.D432H(1)									TATCTGGGGTCTAGAAAAGGA	0.348000													17	63					0	0	0.004990	0	0
OR5K3	403277	broad.mit.edu	37	3	98110249	98110249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:98110249C>T	ENST00000383695.1	+	1	740	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S247L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTCTCTGTGTCAATATTCTGT	0.353000													70	134					0	0	0.014410	0	0
CAMTA1	23261	broad.mit.edu	37	1	6885189	6885189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6885189C>G	ENST00000303635.7	+	3	360	c.153C>G	c.(151-153)atC>atG	p.I51M	CAMTA1_ENST00000467404.2_Missense_Mutation_p.I63M|CAMTA1_ENST00000439411.2_Missense_Mutation_p.I51M|CAMTA1_ENST00000473578.1_Missense_Mutation_p.I51M|CAMTA1_ENST00000557126.1_Missense_Mutation_p.I51M|CAMTA1_ENST00000476163.1_3'UTR	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.I51I(1)|p.I51M(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGTAAAAATCTTTTTACCGA	0.323000			T	WWTR1	epitheliod hemangioendothelioma								27	97					0	0	0.027356	0	0
LRRN3	54674	broad.mit.edu	37	7	110764893	110764893	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:110764893G>C	ENST00000451085.1	+	4	3111	c.2065G>C	c.(2065-2067)Gaa>Caa	p.E689Q	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E689Q|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E689Q	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	689						integral to membrane		p.E689Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCAGGAAAAGAAAAAAGTAC	0.368000													11	84					0	0	0.010729	0	0
MYO5B	4645	broad.mit.edu	37	18	47428980	47428980	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:47428980C>A	ENST00000285039.7	-	21	3094	c.2795G>T	c.(2794-2796)cGg>cTg	p.R932L	MYO5B_ENST00000324581.6_Missense_Mutation_p.R73L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	932					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R932L(1)|p.R932>?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATCGATCTTCCGCTGCAGCTG	0.597000													27	53					1.50538e-07	1.55068e-07	0.006320	1	0
GRIK4	2900	broad.mit.edu	37	11	120673512	120673512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:120673512G>C	ENST00000527524.2	+	4	480	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.E65Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	65					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E65Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCCAAGGTCGAAGTGGACAT	0.602000											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	67					0	0	0.013537	0	0
ZNF165	7718	broad.mit.edu	37	6	28056944	28056944	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:28056944C>T	ENST00000377325.1	+	4	1710	c.1154C>T	c.(1153-1155)tCa>tTa	p.S385L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	385					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S385L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGAGAGCTCAGATCTTACT	0.453000													20	64					0	0	0.008871	0	0
COL4A2	1284	broad.mit.edu	37	13	111077333	111077333	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:111077333G>A	ENST00000360467.5	+	6	655	c.349G>A	c.(349-351)Gat>Aat	p.D117N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	117					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.D117N(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTGGTGCCGATGGAATTCC	0.433000													7	72					0	0	0.003080	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416388	121416388	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416388C>T	ENST00000393667.3	-	13	3092	c.2982G>A	c.(2980-2982)gaG>gaA	p.E994E	GOLGB1_ENST00000340645.5_Silent_p.E989E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	989					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E989E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTTCTCTGCTCATTTTCTT	0.388000													61	190					0	0	0.014410	0	0
RNF25	64320	broad.mit.edu	37	2	219528996	219528996	+	Missense_Mutation	SNP	G	G	C	rs146227317		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:219528996G>C	ENST00000295704.2	-	10	1504	c.1064C>G	c.(1063-1065)cCa>cGa	p.P355R		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	355					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.P355R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCCTTTGGGTGCCTCCG	0.612000													37	137					0	0	0.021022	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571325	155571325	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:155571325G>A	ENST00000392845.3	-	1	842	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC33A1_ENST00000359479.3_Silent_p.F154F			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.F154F(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATAGATCATGAAGAGTCCTA	0.468000													33	83					0	0	0.015359	0	0
GRHL3	57822	broad.mit.edu	37	1	24661179	24661179	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:24661179G>A	ENST00000361548.4	+	3	479	c.249G>A	c.(247-249)agG>agA	p.R83R	GRHL3_ENST00000356046.2_Silent_p.R37R|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_Intron|GRHL3_ENST00000236255.4_Silent_p.R88R|GRHL3_ENST00000350501.5_Silent_p.R83R	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	83					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R88R(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTGGGGGCAGGAATGACCAAG	0.542000													19	211					0	0	0.008871	0	0
ZNF160	90338	broad.mit.edu	37	19	53573363	53573363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53573363C>G	ENST00000601421.1	-	3	1192	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	ZNF160_ENST00000599056.1_Missense_Mutation_p.E142Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E142Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.E142Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	142					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E142Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTGACACTCAAAATCATGC	0.423000													125	154					0	0	0.014410	0	0
EGFL8	80864	broad.mit.edu	37	6	32134565	32134565	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:32134565C>T	ENST00000395512.1	+	4	417	c.312C>T	c.(310-312)caC>caT	p.H104H	EGFL8_ENST00000333845.6_Silent_p.H104H|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	104	EMI.					extracellular region|integral to membrane	calcium ion binding	p.H104H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGAAGCGGCACCCGGGGGCGC	0.667000													10	31					0	0	0.010729	0	0
WHSC1	7468	broad.mit.edu	37	4	1918678	1918678	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:1918678C>A	ENST00000503128.1	+	4	1048	c.841C>A	c.(841-843)Ctc>Atc	p.L281I	WHSC1_ENST00000382895.3_Missense_Mutation_p.L281I|WHSC1_ENST00000508803.1_Missense_Mutation_p.L281I|WHSC1_ENST00000514045.1_Missense_Mutation_p.L281I|WHSC1_ENST00000398261.1_Missense_Mutation_p.L281I|WHSC1_ENST00000382891.5_Missense_Mutation_p.L281I|WHSC1_ENST00000382892.2_Missense_Mutation_p.L281I|WHSC1_ENST00000420906.2_Missense_Mutation_p.L281I			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	281	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.L281I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAGAAGAGCCTCGTAGCTTT	0.428000			T	IGH@	MM								23	82					2.39556e-15	2.51125e-15	0.016522	1	0
FZD8	8325	broad.mit.edu	37	10	35929518	35929518	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:35929518C>G	ENST00000374694.1	-	1	844	c.840G>C	c.(838-840)tgG>tgC	p.W280C		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	280					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.W280C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACAGGCCGATCCAGAAGACGG	0.612000													3	45					0	0	0.004672	0	0
FMN2	56776	broad.mit.edu	37	1	240341299	240341299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:240341299C>T	ENST00000319653.9	+	3	2091	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	621					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R764*(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTTTCCTAGGCGAGTTCCATC	0.448000													25	67					0	0	0.007291	0	0
SAMD14	201191	broad.mit.edu	37	17	48191613	48191613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48191613C>T	ENST00000330175.4	-	8	1197	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	SAMD14_ENST00000503131.1_Missense_Mutation_p.G322R	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	294								p.G322R(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCCAGGGCCCACTGGGGATC	0.597000													10	36					0	0	0.010729	0	0
SUGP1	57794	broad.mit.edu	37	19	19431303	19431303	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19431303C>T	ENST00000247001.5	-	1	350	c.3G>A	c.(1-3)atG>atA	p.M1I	SUGP1_ENST00000334782.5_Start_Codon_SNP_p.M1I|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	1					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	p.M1I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TCTTGAGACTCATCCAATCCC	0.612000													29	84					0	0	0.027356	0	0
NCR2	9436	broad.mit.edu	37	6	41303625	41303625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:41303625G>A	ENST00000373083.4	+	1	233	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	NCR2_ENST00000373089.5_Missense_Mutation_p.R4Q|NCR2_ENST00000373086.3_Missense_Mutation_p.R4Q	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	4					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R4Q(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATGGCCTGGCGAGCCCTACAC	0.622000													3	4					0	0	0.004672	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													3	3	---	---	---	---					
TNFRSF25	8718	broad.mit.edu	37	1	6525566	6525567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6525566_6525567insG	ENST00000377782.3	-	2	160_161	c.93_94insC	c.(91-96)cccaggfs	p.R32fs	TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Frame_Shift_Ins_p.R32fs|TNFRSF25_ENST00000356876.3_Frame_Shift_Ins_p.R32fs|TNFRSF25_ENST00000351959.5_Frame_Shift_Ins_p.R32fs|TNFRSF25_ENST00000351748.3_Frame_Shift_Ins_p.R32fs	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	32					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTCACACCTGGGGCTACGAG	0.673													9	43	---	---	---	---					
ENO1	2023	broad.mit.edu	37	1	8927225	8927226	+	Frame_Shift_Ins	INS	-	-	GG	rs144538182	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:8927225_8927226insGG	ENST00000234590.4	-	6	513_514	c.394_395insCC	c.(394-396)cgcfs	p.R132fs		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	132	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGCGATGTGGCGGTACAGGGGG	0.559													9	81	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													8	810	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	5	---	---	---	---					
ARHGEF11	9826	broad.mit.edu	37	1	156911698	156911698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156911698delG	ENST00000368194.3	-	34	4449	c.3410delC	c.(3409-3411)ccafs	p.P1137fs	ARHGEF11_ENST00000361409.2_Frame_Shift_Del_p.P1097fs|ARHGEF11_ENST00000315174.8_Frame_Shift_Del_p.P513fs|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1097					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGGGACCTGGGGGTGGAGG	0.647													14	81	---	---	---	---					
ZNF513	130557	broad.mit.edu	37	2	27603057	27603058	+	Translation_Start_Site	DEL	CA	CA	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27603057_27603058delCA	ENST00000407879.1	-	0	253_254				ZNF513_ENST00000323703.6_Frame_Shift_Del_p.L40fs	NM_001201459.1	NP_001188388.1	Q8N8E2	ZN513_HUMAN	zinc finger protein 513						regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTAGTAGCAAATCACTCTC	0.574													47	153	---	---	---	---					
GPR17	2840	broad.mit.edu	37	2	128408472	128408473	+	Frame_Shift_Ins	INS	-	-	T	rs17852981		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:128408472_128408473insT	ENST00000544369.1	+	4	858_859	c.247_248insT	c.(247-249)cttfs	p.L83fs	LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Frame_Shift_Ins_p.L83fs|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Frame_Shift_Ins_p.L83fs	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	83				L -> F (in Ref. 5; AAH31653).		integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGCTCTGTGGCTTTTCATCCGA	0.589													38	111	---	---	---	---					
CERS6	253782	broad.mit.edu	37	2	169571567	169571572	+	In_Frame_Del	DEL	ATATGT	ATATGT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:169571567_169571572delATATGT	ENST00000305747.6	+	7	1253_1258	c.666_671delATATGT	c.(664-672)tcatatgtc>tcc	p.YV223del	CERS6_ENST00000392687.4_In_Frame_Del_p.YV223del	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	223	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTACCTTTTCATATGTCAACAATATG	0.374													104	186	---	---	---	---					
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192701073delC	ENST00000304141.4	-	2	1183	c.854delG	c.(853-855)ggafs	p.G285fs		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458													130	291	---	---	---	---					
ITGA9	3680	broad.mit.edu	37	3	37695244	37695257	+	Frame_Shift_Del	DEL	GCAGACCTGCAGCT	GCAGACCTGCAGCT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:37695244_37695257delGCAGACCTGCAGCT	ENST00000264741.5	+	17	2135_2148	c.1879_1892delGCAGACCTGCAGCT	c.(1879-1893)gcagacctgcagcttfs	p.ADLQL627fs		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	627					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGACTGTGCCGCAGACCTGCAGCTTCAGGGTAAA	0.505													33	125	---	---	---	---					
IMPG2	50939	broad.mit.edu	37	3	100964653	100964654	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:100964653_100964654insA	ENST00000193391.7	-	12	1722_1723	c.1535_1536insT	c.(1534-1536)gtafs	p.V512fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	512					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCATCTTCTACCAAGTGAGA	0.436													73	155	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108682419	108682419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:108682419delT	ENST00000232603.5	-	27	2723	c.2641delA	c.(2641-2643)atafs	p.I881fs	MORC1_ENST00000483760.1_Frame_Shift_Del_p.I860fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCTCTTTATTTTTTTTTCA	0.284													17	159	---	---	---	---					
RAD50	10111	broad.mit.edu	37	5	131915089	131915102	+	Frame_Shift_Del	DEL	CTGTGCTAAATAAT	CTGTGCTAAATAAT	-	rs138060491		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:131915089_131915102delCTGTGCTAAATAAT	ENST00000378823.3	+	4	847_860	c.29_42delCTGTGCTAAATAAT	c.(28-42)gctgtgctaaataatfs	p.AVLNN10fs	RAD50_ENST00000265335.6_Frame_Shift_Del_p.AVLNN149fs	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	149					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.V150A(1)|p.V11A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTCCAAGGCTGTGCTAAATAATGTCATTTTCT	0.374								Homologous recombination					19	78	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76507283	76507284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:76507283_76507284insC	ENST00000527881.1	+	2	1649_1650	c.623_624insC	c.(622-627)cgctacfs	p.Y209fs	TSKU_ENST00000333090.4_Frame_Shift_Ins_p.Y209fs			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	209						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TTGCCCCTGCGCTACCTGAGCC	0.673													43	127	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57920933	57920934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57920933_57920934insC	ENST00000355673.3	+	7	2361_2362	c.2005_2006insC	c.(2005-2007)gccfs	p.A669fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.A669fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCACTTTCAGCCCCCCCTACC	0.639													10	38	---	---	---	---					
CTD-2184D3.5	0	broad.mit.edu	37	15	52387825	52387825	+	RNA	DEL	A	A	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:52387825delA	ENST00000558607.1	-	0	54																											TAAGAATGCTAAATTCCATCT	0.418													21	71	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10599968	10599969	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10599968_10599969insCA	ENST00000171111.5	-	5	2154_2155	c.1607_1608insTG	c.(1606-1608)cgcfs	p.R536fs	KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.R536fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R536H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCACATCGTAGCGCTCCACGCT	0.574													11	27	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.618_619delAAGT	c.(616-621)gaaagt>gagt	p.S207fs	KDM6A_ENST00000536777.1_Splice_Site_p.S207fs|KDM6A_ENST00000543216.1_Splice_Site_p.S207fs|KDM6A_ENST00000382899.4_Splice_Site_p.S207fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	207					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAATGCTGAAAGTAAGTATTATT	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								66	56	---	---	---	---