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
SIK1	150094	broad.mit.edu	37	21	44837482	44837482	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr21:44837482G>A	ENST00000270162.6	-	13	2049	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	639					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGGCTGCGCCGCCGTGCAGGC	0.771000													10	17					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389008	38389008	+	RNA	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:38389008C>T	ENST00000390344.2	-	0	499																											AATTAGATTTCGTAGTATCAA	0.448000													61	105					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785121	82785121	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:82785121G>A	ENST00000423517.2	-	2	1173	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCLO_ENST00000333891.8_Missense_Mutation_p.S279F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	279	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGGCCTGGATGCATCTCG	0.478000													50	64					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102987416	102987416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:102987416C>T	ENST00000375735.2	+	5	883	c.739C>T	c.(739-741)Cga>Tga	p.R247*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R247*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R247*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTGAGTCACGAATGTTGCA	0.348000													25	210					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135273709	135273709	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:135273709G>A	ENST00000334270.2	-	4	1635	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	532					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATTTAATAGCGACACCTAGAA	0.393000													33	32					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346592	131346592	+	Missense_Mutation	SNP	G	G	A	rs146412583		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:131346592G>A	ENST00000372739.3	+	17	2335	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R742H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R742H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	742					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTCAGGCCCGCCAGTTCCAA	0.483000													4	91					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230646	104230646	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:104230646G>A	ENST00000238936.4	+	5	713	c.476G>A	c.(475-477)cGc>cAc	p.R159H	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	159						integral to membrane		p.R159H(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCCACGACCGCACCCACCTC	0.592000													5	191					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995566	139995566	+	Silent	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139995566C>G	ENST00000371589.4	+	7	1099	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	MAN1B1_ENST00000474902.1_Silent_p.A45A	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	342					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTGAGTGCCTACCACCTGT	0.552000													60	117					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75633097	75633097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:75633097G>A	ENST00000451157.1	-	7	845	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.R130C|STYXL1_ENST00000431581.1_Missense_Mutation_p.R226C|STYXL1_ENST00000359697.3_Missense_Mutation_p.R226C|STYXL1_ENST00000248600.1_Missense_Mutation_p.R226C			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	226	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CACATGTGGCGTAAGAAGGGA	0.557000													23	80					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646536	23646536	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:23646536T>C	ENST00000261584.4	-	4	1483	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	444					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCATCCTTATTTTTATTTTT	0.393000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					75	139					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384695	58384695	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:58384695G>T	ENST00000316059.6	+	11	1400	c.1229G>T	c.(1228-1230)cGa>cTa	p.R410L	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R410L	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	410					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTTACTTGTCGACAAAAGGCA	0.398000													54	121					5.66675e-16	6.13343e-16	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27017143	27017143	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:27017143A>C	ENST00000314616.6	+	26	3669	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1129A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1129					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATCCGGGCAGAGCTGAGCTGT	0.522000													126	143					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154385	100154385	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:100154385C>A	ENST00000263174.4	+	7	944	c.569C>A	c.(568-570)aCa>aAa	p.T190K	PALMD_ENST00000605497.1_Missense_Mutation_p.T190K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	190					regulation of cell shape	cytoplasm|membrane		p.T190K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGAAAGTACAGTTCTGTCT	0.318000													6	224					0.0381472	0.0389949	1	1	0
SCYL1	57410	broad.mit.edu	37	11	65298219	65298219	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:65298219C>T	ENST00000524944.1	+	7	1002	c.969C>T	c.(967-969)ttC>ttT	p.F323F	SCYL1_ENST00000270176.5_Silent_p.F323F|SCYL1_ENST00000533862.1_Silent_p.F323F|SCYL1_ENST00000420247.2_Silent_p.F323F|SCYL1_ENST00000525364.1_Silent_p.F323F|SCYL1_ENST00000279270.6_Silent_p.F323F|SCYL1_ENST00000527009.1_Silent_p.F180F|SCYL1_ENST00000527630.1_Silent_p.F323F			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	323					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCTTCGAGTTCGGCAATGCTG	0.587000													30	149					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64606848	64606848	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr3:64606848C>T	ENST00000498707.1	-	19	3097	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D891N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	919	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCAGCCGATCGCATCTTTGA	0.463000													14	31					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	rs35385129	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000344956.4_Intron|PVR_ENST00000403059.4_Intron|PVR_ENST00000425690.3_Intron|CTB-171A8.1_ENST00000590796.1_RNA	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532000													3	32					0.115264	0.116531	1	1	0
ZNF737	100129842	broad.mit.edu	37	19	20727463	20727463	+	Missense_Mutation	SNP	T	T	C	rs10411329	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:20727463T>C	ENST00000427401.4	-	4	1640	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	516					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTAAAGCCTTTGCCACATTCT	0.403000													3	55					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944428	96944428	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:96944428G>A	ENST00000323853.5	-	38	5422	c.5345C>T	c.(5344-5346)tCg>tTg	p.S1782L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1782						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAAGTGGTCCGACAAGTGACG	0.567000													30	121					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474117	134474117	+	Splice_Site	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr8:134474117C>A	ENST00000319914.5	-	8	1877		c.e8+1		ST3GAL1_ENST00000399640.2_Splice_Site|ST3GAL1_ENST00000522652.1_Splice_Site|ST3GAL1_ENST00000521180.1_Splice_Site			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGGTGGCATACCTCATCGCAG	0.597000													99	164					1.9358e-47	2.17187e-47	1	1	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552000		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)			12	35					6.40141e-05	6.76931e-05	1	1	0
MARCO	8685	broad.mit.edu	37	2	119739968	119739968	+	Nonsense_Mutation	SNP	G	G	T	rs137938144		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:119739968G>T	ENST00000541757.1	+	13	1191	c.811G>T	c.(811-813)Gga>Tga	p.G271*	MARCO_ENST00000327097.4_Nonsense_Mutation_p.G349*			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	349	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G349R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCTGAAAGGAAGCAAAGG	0.567000													74	164					2.17518e-87	2.50145e-87	1	1	0
LRCH2	57631	broad.mit.edu	37	X	114357668	114357668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:114357668C>T	ENST00000317135.8	-	18	1967	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R629Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	646	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TATTTGCTCTCGCTCTTCCCG	0.408000													14	13					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968194	18968194	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:18968194C>T	ENST00000262803.5	+	15	2306	c.2034C>T	c.(2032-2034)gcC>gcT	p.A678A	UPF1_ENST00000599848.1_Silent_p.A689A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	689					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			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						CGGCCAAGGCCGGGCTGTCAC	0.647000													32	105					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824983	162824983	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:162824983C>A	ENST00000367912.1	-	4	652	c.478G>T	c.(478-480)Gat>Tat	p.D160Y	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.D156Y|C1orf110_ENST00000367910.1_Missense_Mutation_p.D161Y			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	161								p.D161N(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TTCACAGAATCTTTCTCTTGG	0.468000													146	580					3.50555e-50	3.98161e-50	1	1	0
SERF2	10169	broad.mit.edu	37	15	44085984	44085984	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:44085984G>A	ENST00000409960.2	+	3	374	c.327G>A	c.(325-327)tcG>tcA	p.S109S	SERF2_ENST00000249786.4_3'UTR|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000339624.5_Silent_p.S72S|SERF2_ENST00000381359.1_3'UTR|SERF2_ENST00000409614.1_3'UTR|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000402131.1_3'UTR|SERF2_ENST00000403425.1_3'UTR	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TTGTGGCTTCGTGTCCAACCC	0.577000													24	78					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74782758	74782758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:74782758G>T	ENST00000233668.5	+	3	1086	c.417G>T	c.(415-417)gaG>gaT	p.E139D	DOK1_ENST00000409429.1_5'UTR|DOK1_ENST00000340004.6_Missense_Mutation_p.E139D|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	139					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCCCTGGAGATGCTGGAGA	0.587000													46	86					2.59344e-38	2.87466e-38	1	1	0
CLEC16A	23274	broad.mit.edu	37	16	11114077	11114077	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:11114077G>A	ENST00000409790.1	+	12	1561	c.1331G>A	c.(1330-1332)aGc>aAc	p.S444N	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S426N	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	444								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGGAGCGTAGCAAGCTCTCA	0.557000													25	58					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:2880459C>T	ENST00000382280.3	+	2	204	c.125C>T	c.(124-126)aCg>aTg	p.T42M	ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	42	Poly-Leu.					extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662000													14	14					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369030	22369030	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:22369030G>C	ENST00000332663.2	+	1	553	c.455G>C	c.(454-456)gGc>gCc	p.G152A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGAGGGGGGGCTTCATTCAT	0.502000													73	382					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537764	24537764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:24537764T>C	ENST00000264463.4	-	3	758	c.251A>G	c.(250-252)aAa>aGa	p.K84R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	84	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCATCTCCTTTATCTTGGTC	0.363000										HNSCC(23;0.051)			5	91					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6940504	6940504	+	RNA	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:6940504C>A	ENST00000251761.8	+	0	1143				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GACCTGGCCTCGGACCCAGAG	0.597000													3	86					1	1	1	1	0
THAP10	56906	broad.mit.edu	37	15	71175199	71175199	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:71175199G>C	ENST00000249861.4	-	2	990	c.478C>G	c.(478-480)Cca>Gca	p.P160A	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	160							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTATTAGATGGATTATCAGCA	0.393000													29	117					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128811	99128811	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:99128811T>G	ENST00000394170.2	+	7	1710	c.1459T>G	c.(1459-1461)Tct>Gct	p.S487A	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S487A|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S487A	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	487					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATGGAACTATCTGGAAAAAC	0.348000													111	219					0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:176947052C>T	ENST00000308618.4	-	2	689	c.553G>A	c.(553-555)Gcg>Acg	p.A185T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721000													16	21					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119100522	119100522	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:119100522G>A	ENST00000334464.5	-	2	1203	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	322					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTTTAAGACGGCCTTCAGTA	0.378000													3	75					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131917292	131917292	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:131917292C>T	ENST00000403834.3	-	22	2981	c.2808G>A	c.(2806-2808)gaG>gaA	p.E936E	MED23_ENST00000368060.3_Silent_p.E930E|MED23_ENST00000368058.1_Silent_p.E936E|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Silent_p.E936E|MED23_ENST00000368068.3_Silent_p.E930E|MED23_ENST00000545957.1_Silent_p.E571E			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	930					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATACAACTTCTCTGGATATT	0.378000													19	96					0	0	1	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884371	143884371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:143884371A>G	ENST00000378115.2	-	2	1235	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.V369A	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	369	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GCTGACTGGGACCCCTTTCTC	0.537000													4	95					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235953	33235953	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:33235953C>T	ENST00000401073.2	+	6	1243	c.1173C>T	c.(1171-1173)cgC>cgT	p.R391R	KIAA1522_ENST00000373481.3_Silent_p.R343R|KIAA1522_ENST00000373480.1_Silent_p.R332R|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCAGTCCGCTCGCTGGGGC	0.687000													17	44					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													4	12					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													7	66					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276564	186276564	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367483.4_Silent_p.T530T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T478T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.642000													5	122					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41769670	41769670	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:41769670G>A	ENST00000389629.4	+	14	1709	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCAACCAGCGGAACCGGGAG	0.453000													36	115					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26157170	26157170	+	Silent	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:26157170G>T	ENST00000304218.3	+	1	612	c.552G>T	c.(550-552)gcG>gcT	p.A184A		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	184					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAAAAAGGCGCCCAAGAGCC	0.567000													6	28					0.00198382	0.00207399	1	1	0
GPR37L1	9283	broad.mit.edu	37	1	202092540	202092540	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:202092540C>T	ENST00000367282.4	+	1	555	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	150						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCAACCTGTCGGTCATGTGC	0.572000													50	64					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44641091	44641091	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:44641091G>A	ENST00000372330.3	+	8	1219	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCGTGGCGGCGCATGAGTTCG	0.652000													85	81					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369094	139369094	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139369094C>T	ENST00000313050.7	-	1	3047	c.2974G>A	c.(2974-2976)Gga>Aga	p.G992R	SEC16A_ENST00000431893.2_Missense_Mutation_p.G814R|SEC16A_ENST00000371706.3_Missense_Mutation_p.G814R|SEC16A_ENST00000290037.6_Missense_Mutation_p.G814R	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	814	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTAGGGCTCCGTAAGTGTCT	0.502000													19	34					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426383	125426383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:125426383G>A	ENST00000284674.1	+	1	513	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	154					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCAGCTGTACGCCTCGTGCAC	0.701000													8	14					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412557	220412557	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:220412557C>T	ENST00000344458.2	+	4	1081	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	TMEM198_ENST00000373883.3_Missense_Mutation_p.R166C			Q66K66	TM198_HUMAN	transmembrane protein 198	166	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCACTCTGCGCTGGCCCCG	0.706000													19	23					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904719	55904719	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:55904719A>T	ENST00000301529.1	-	1	475	c.476T>A	c.(475-477)gTt>gAt	p.V159D		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAAGGTGAAACCACAATAGC	0.423000													5	163					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605804	58605804	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:58605804C>T	ENST00000267485.7	-	2	467	c.273G>A	c.(271-273)tcG>tcA	p.S91S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	91						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTGTTAATCGAGAATGCTT	0.488000													80	143					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652573	1652573	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:1652573G>A	ENST00000252804.4	-	17	3029	c.2979C>T	c.(2977-2979)cgC>cgT	p.R993R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	993					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTTGTGCTCGCGGAACCACA	0.647000													7	10					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	6880243	6880243	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:6880243C>T	ENST00000303635.7	+	2	255	c.48C>T	c.(46-48)agC>agT	p.S16S	CAMTA1_ENST00000473578.1_Silent_p.S16S|CAMTA1_ENST00000439411.2_Silent_p.S16S|CAMTA1_ENST00000557126.1_Silent_p.S16S|CAMTA1_ENST00000467404.2_Intron|CAMTA1_ENST00000476163.1_Intron	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			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)		TTCCTTAGagcgtttcccaaa	0.373000			T	WWTR1	epitheliod hemangioendothelioma								8	114					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086194	175086194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:175086194G>A	ENST00000239462.4	+	10	2352	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	747	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCTGCCAAGGACGGAGAGAC	0.642000													84	143					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	19					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447466	85447466	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:85447466C>T	ENST00000394573.1	+	7	802	c.600C>T	c.(598-600)tgC>tgT	p.C200C	SLC28A1_ENST00000537624.1_Silent_p.C200C|SLC28A1_ENST00000286749.3_Silent_p.C200C|SLC28A1_ENST00000538177.1_Silent_p.C200C|SLC28A1_ENST00000537703.1_Silent_p.C122C|SLC28A1_ENST00000537216.1_Silent_p.C200C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	200					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCATCATTGCGCAGTGAGTG	0.587000													83	60					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356303	70356303	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:70356303G>A	ENST00000333646.6	+	37	5397	c.5198G>A	c.(5197-5199)cGg>cAg	p.R1733Q	MED12_ENST00000374102.1_Missense_Mutation_p.R1733Q|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.R1733Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1733	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGAGGCCCCGGCCCCGCGCC	0.642000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	4					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846113	18846113	+	RNA	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr22:18846113C>T	ENST00000412938.1	+	0	3471																											ATCTCCTCCACGCACTGGCGC	0.612000													4	58					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:169529961G>A	ENST00000367796.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000367797.3_Silent_p.D139D|F5_ENST00000546081.1_Silent_p.D2D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			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)	CCACAGCGTCGTCCATCTTCT	0.517000													76	147					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33177826	33177826	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:33177826T>G	ENST00000374656.4	+	4	582	c.374T>G	c.(373-375)cTt>cGt	p.L125R	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	125	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GACCGAGTGCTTATCCGCCTG	0.582000													10	49					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992531	19992531	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:19992531G>A	ENST00000289753.1	+	1	752	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	95					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GGGTGCTGGCGCGCGGCCTCT	0.652000													6	112					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5170125	5170125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:5170125C>T	ENST00000282908.5	+	3	630	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	STK32B_ENST00000512636.1_Missense_Mutation_p.R23W|STK32B_ENST00000510398.1_Missense_Mutation_p.R23W	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	70	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R70R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAATGTTTTCCGGGAGCTGCA	0.537000													18	40					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421367	62421367	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:62421367G>A	ENST00000245663.4	-	2	894	c.744C>T	c.(742-744)gaC>gaT	p.D248D	ZBTB46_ENST00000395104.1_Silent_p.D248D|ZBTB46_ENST00000302995.2_Silent_p.D248D	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGCACCGTCCTTGGCAG	0.587000													59	110					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72055946	72055946	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:72055946C>G	ENST00000265381.4	-	11	2489	c.2267G>C	c.(2266-2268)cGc>cCc	p.R756P		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	756	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAGCTGGTAGCGAAGGTCTGG	0.453000													32	234					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325401	12325401	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr18:12325401G>A	ENST00000317702.5	+	4	847	c.613G>A	c.(613-615)Gag>Aag	p.E205K	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CATCGACAACGAGGCGCTCTA	0.602000													38	208					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29552201	29552201	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:29552201C>A	ENST00000222792.6	+	13	1787	c.1257C>A	c.(1255-1257)gaC>gaA	p.D419E	CHN2_ENST00000439711.2_Missense_Mutation_p.D237E|CHN2_ENST00000546235.1_Missense_Mutation_p.D404E|CHN2_ENST00000539389.1_Missense_Mutation_p.D275E|CHN2_ENST00000539406.1_Missense_Mutation_p.D494E|CHN2_ENST00000495789.2_Missense_Mutation_p.D432E|CHN2_ENST00000421775.2_Missense_Mutation_p.D225E|CHN2_ENST00000424025.2_Missense_Mutation_p.D238E|CHN2_ENST00000409041.4_Missense_Mutation_p.D283E|CHN2_ENST00000435288.2_Missense_Mutation_p.D143E|CHN2_ENST00000410098.1_3'UTR	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	419	Rho-GAP.				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.D419E(2)|p.D283E(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ATGAAAAAGACAATTTCATGA	0.428000													5	133					0.014758	0.0152555	1	1	0
DENND5B	160518	broad.mit.edu	37	12	31586167	31586167	+	Silent	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:31586167C>G	ENST00000389082.5	-	8	2292	c.2028G>C	c.(2026-2028)cgG>cgC	p.R676R	DENND5B_ENST00000306833.6_Silent_p.R711R|DENND5B_ENST00000536562.1_Silent_p.R711R|DENND5B_ENST00000354285.4_Silent_p.R698R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	676						integral to membrane				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						CAGTGGCACTCCGACTTACCC	0.448000													5	274					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24834933	24834933	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:24834933T>A	ENST00000395799.3	+	25	5823	c.5694T>A	c.(5692-5694)aaT>aaA	p.N1898K	TNRC6A_ENST00000432286.2_Missense_Mutation_p.N376K|TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1849K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1898	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCGATCTCAATCACTGGAATG	0.622000													147	287					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103441563	103441563	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr13:103441563A>C	ENST00000376004.4	-	7	1428	c.1092T>G	c.(1090-1092)taT>taG	p.Y364*	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	364						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATTTATTTGATACTTATGCT	0.393000													4	72					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432462	4432462	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:4432462C>T	ENST00000304735.3	+	2	1739	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	528	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCGGCCCAACGCCACTTACT	0.677000													10	9					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311486	86311486	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:86311486G>A	ENST00000337975.5	-	2	1830	c.1556C>T	c.(1555-1557)aCg>aTg	p.T519M	KLHL25_ENST00000536947.1_Missense_Mutation_p.T519M|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	519						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCAATCCGCGTCCACTGGTT	0.612000													29	91					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76260255	76260255	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:76260255A>G	ENST00000319942.3	+	9	987	c.916A>G	c.(916-918)Att>Gtt	p.I306V	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.I132V	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	306					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AGAAGAACAGATTAAACCTGT	0.353000													65	123					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60900576	60900576	+	Silent	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:60900576G>T	ENST00000252999.3	-	41	5391	c.5325C>A	c.(5323-5325)cgC>cgA	p.R1775R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1775	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAGTGTTGCGCGTCTCCG	0.622000													49	52					2.74695e-27	3.00857e-27	1	1	0
OR2J2	26707	broad.mit.edu	37	6	29141855	29141855	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:29141855C>A	ENST00000377167.2	+	1	545	c.443C>A	c.(442-444)gCt>gAt	p.A148D		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTGGTTGCGGCTTCTTGGGTA	0.458000													213	239					2.6979e-105	3.14185e-105	1	1	0
VCAN	1462	broad.mit.edu	37	5	82816466	82816466	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:82816466G>A	ENST00000265077.3	+	7	2906	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E733K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E781K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	781	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATATGATGAAAATATTAC	0.383000													34	62					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													4	25					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74968148	74968148	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:74968148G>A	ENST00000261978.4	-	35	5702	c.5316C>T	c.(5314-5316)tgC>tgT	p.C1772C	LTBP2_ENST00000556690.1_Silent_p.C1728C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1772	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACTTACCTACGCAGGCCATGT	0.607000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	100	165					0	0	1	0	0
CCDC126	90693	broad.mit.edu	37	7	23682617	23682617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:23682617C>G	ENST00000307471.3	+	4	763	c.306C>G	c.(304-306)aaC>aaG	p.N102K	CCDC126_ENST00000410069.1_Missense_Mutation_p.N102K|CCDC126_ENST00000409765.1_Missense_Mutation_p.N102K	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	102						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AGCTGGAGAACAAAGTTGACT	0.393000													4	121					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939397	47939397	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:47939397C>T	ENST00000402813.3	-	10	1463	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CNGA1_ENST00000420489.2_Missense_Mutation_p.D372N|CNGA1_ENST00000514170.1_Missense_Mutation_p.D372N|CNGA1_ENST00000544810.1_Missense_Mutation_p.D372N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D372N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	372					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTCAGAATCCCTCACGGGA	0.418000													133	176					0	0	1	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186960	26186960	+	RNA	DEL	T	T	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:26186960delT	ENST00000455431.1	+	0	263																											AATTTTGTAATTTTTTTTTTT	0.552													2	4	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gct>g	p.EA716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													8	159	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73718322	73718322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:73718322delT	ENST00000264448.6	+	10	9344	c.9233delT	c.(9232-9234)agfs	p.M3078fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.M3036fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3078					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGCGAGGATGAATAGTGAG	0.383													62	124	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388622	1388623	+	Frame_Shift_Ins	INS	-	-	CA	rs79704405	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:1388622_1388623insCA	ENST00000324803.4	+	1	3283_3284	c.323_324insCA	c.(322-324)cacfs	p.H108fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	108					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCCAT	0.668													23	575	---	---	---	---					
RP11-804N13.1	0	broad.mit.edu	37	5	21651103	21651106	+	RNA	DEL	CTTC	CTTC	-	rs55906320		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:21651103_21651106delCTTC	ENST00000522350.1	+	0	476																											tcttttctttcttccttccttcct	0.324													2	4	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													38	17	---	---	---	---					
MIR381HG	378881	broad.mit.edu	37	14	101514904	101514905	+	RNA	DEL	GT	GT	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:101514904_101514905delGT	ENST00000553692.1	+	0	28																											CACCTCTGGGgtgtgtgtgtgt	0.470													3	2	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													46	55	---	---	---	---					
SPOP	8405	broad.mit.edu	37	17	47700125	47700126	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:47700125_47700126insCCAC	ENST00000393331.3	-	4	517_518	c.47_48insGTGG	c.(46-48)gccfs	p.A16fs	SPOP_ENST00000504102.1_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000503676.1_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000393328.2_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000347630.2_Frame_Shift_Ins_p.A16fs|SPOP_ENST00000513080.1_5'UTR	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	16					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGCTACGGGGCCACTCGACAT	0.495										Prostate(2;0.17)			26	266	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:56056587_56056589delTGT	ENST00000584396.1	-	5	1123_1125	c.1035_1037delACA	c.(1033-1038)cat>ca	p.QH345del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473													15	364	---	---	---	---					
SF3A2	8175	broad.mit.edu	37	19	2248165	2248185	+	In_Frame_Del	DEL	CCAGCCCCCGGGGTTCACCCA	CCAGCCCCCGGGGTTCACCCA	-	rs144349304		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENST00000221494.4	+	9	1433_1453	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	c.(1015-1035)del	p.PAPGVHP360del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	360	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG	0.742													7	9	---	---	---	---					
ZNF791	163049	broad.mit.edu	37	19	12740051	12740051	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:12740051delC	ENST00000343325.4	+	4	1870	c.1708delC	c.(1708-1710)atfs	p.H570fs	ZNF791_ENST00000458122.3_Frame_Shift_Del_p.H538fs|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Frame_Shift_Del_p.H461fs|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CTTAAAAAAACATATGAGAAT	0.338													26	92	---	---	---	---					
TBC1D10A	83874	broad.mit.edu	37	22	30688463	30688478	+	Frame_Shift_Del	DEL	GGGGGCTGAGTCCTTC	GGGGGCTGAGTCCTTC	-	rs146725573	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr22:30688463_30688478delGGGGGCTGAGTCCTTC	ENST00000215790.7	-	9	1577_1592	c.1413_1428delGAAGGACTCAGCCCCC	c.(1411-1428)ccfs	p.PKDSAP471fs	TBC1D10A_ENST00000403477.3_Frame_Shift_Del_p.PKDSAP478fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Del_p.PKDSAP383fs|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	471						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGAGTCCTTGGGGGCTGAGTCCTTCGGGGGCACAT	0.620													44	288	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152864477	152864478	+	Splice_Site	INS	-	-	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:152864477_152864478insC	ENST00000406277.2	-	2	152_153	c.51_splice	c.e2+1	p.A17_splice	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	18					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCGGCTGCCCTCCGGGCC	0.782													6	4	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418													7	36	---	---	---	---