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
MTFR1	9650	broad.mit.edu	37	8	66605935	66605935	+	Silent	SNP	G	G	A	rs148137982		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:66605935G>A	ENST00000262146.4	+	4	348	c.222G>A	c.(220-222)gcG>gcA	p.A74A	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A41A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ATGCAGTGGCGTCTTTTGCTG	0.448000													5	51					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211064	37211064	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr19:37211064C>T	ENST00000585696.1	+	3	2575	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	ZNF567_ENST00000392163.2_Missense_Mutation_p.P449S|ZNF567_ENST00000360729.4_Missense_Mutation_p.P449S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.P449S|ZNF567_ENST00000536254.2_Missense_Mutation_p.P480S			Q8N184	ZN567_HUMAN	zinc finger protein 567	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTATGAATGTCCTCACTGTGG	0.418000													25	30					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783826	169783826	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:169783826C>T	ENST00000263817.6	-	26	3582	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1153	ABC transporter 2.		R -> C (in PFIC2).		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AATGTTTGAGCGGAGGAACTG	0.413000													18	31					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258003	10258003	+	Silent	SNP	C	C	T	rs117400706	by1000genomes	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:10258003C>T	ENST00000418404.3	-	10	1162	c.999G>A	c.(997-999)gcG>gcA	p.A333A	MYH13_ENST00000252172.4_Silent_p.A333A|MYH13_ENST00000570743.1_Silent_p.A333A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	333	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTACATCTGTCGCCAGCAGTT	0.468000													17	17					0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141481157	141481157	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:141481157G>T	ENST00000262999.3	-	6	892	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	273					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AAGAAGGAAGGTACCAACCTA	0.418000													13	29					5.50884e-06	5.99207e-06	1	1	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912310	132912310	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:132912310C>T	ENST00000409867.1	-	4	788	c.539G>A	c.(538-540)aGg>aAg	p.R180K	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						ACTTCTTTTCCTTATGGCCAG	0.294000													4	6					0	0	1	0	0
UBLCP1	134510	broad.mit.edu	37	5	158696047	158696047	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr5:158696047C>T	ENST00000296786.6	+	2	450	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCCAGAACGCCAAAAGTT	0.363000													9	86					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100706286	100706286	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr12:100706286A>G	ENST00000360820.2	+	6	1144	c.707A>G	c.(706-708)gAa>gGa	p.E236G		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	236	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTGGCTCCTGAATACATACTT	0.343000													7	54					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389867	22389867	+	Missense_Mutation	SNP	T	T	C	rs143592195		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:22389867T>C	ENST00000334304.5	-	19	3696	c.3427A>G	c.(3427-3429)Aca>Gca	p.T1143A	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1143					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAATGTTCTGTCAGACTATTA	0.453000													28	46					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638450	8638450	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:8638450C>A	ENST00000293845.3	-	6	1063	c.837G>T	c.(835-837)gaG>gaT	p.E279D	CCDC42_ENST00000539522.2_Missense_Mutation_p.E205D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	279										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CCAGTGCCACCTCAGTCACCT	0.612000													6	25					8.12818e-05	8.54148e-05	1	1	0
RPS6KB2	6199	broad.mit.edu	37	11	67198879	67198879	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr11:67198879G>A	ENST00000312629.5	+	5	395	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R117Q|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	117	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCACACACACGGGCTGAGCGG	0.527000													15	28					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612000													3	34					3.59834e-05	3.8465e-05	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145147439	145147439	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:145147439T>C	ENST00000558170.2	-	10	4408	c.3224A>G	c.(3223-3225)aAt>aGt	p.N1075S	ZEB2_ENST00000539609.3_Missense_Mutation_p.N1051S|ZEB2_ENST00000409487.3_Missense_Mutation_p.N1075S|ZEB2_ENST00000303660.4_Missense_Mutation_p.N1075S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1075						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATACCTGTGATTCATGTGCTG	0.597000													31	41					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38935997	38935997	+	Silent	SNP	G	G	A	rs139309635	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:38935997G>A	ENST00000301656.3	-	4	841	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	267	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTGCTCTGCGAGGGCTTCGT	0.642000													11	15					0	0	1	0	0
MT1JP	0	broad.mit.edu	37	16	56669854	56669854	+	RNA	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr16:56669854C>T	ENST00000564564.1	+	0	180																											AAGTTCTGAGCGGAAGGGGAC	0.547000													8	9					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995994	139995994	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr9:139995994C>T	ENST00000371589.4	+	8	1197	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	MAN1B1_ENST00000474902.1_Missense_Mutation_p.S78L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	375					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)		ATTCCTTACTCGGATGTGAAC	0.552000													29	65					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757654	99757654	+	Missense_Mutation	SNP	C	C	T	rs144461733		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:99757654C>T	ENST00000360039.4	-	4	1750	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453H|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391H|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTAGCTAGGCGCTCACATTC	0.567000													21	39					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													9	71					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7763669	7763669	+	Missense_Mutation	SNP	G	G	A	rs147906523	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:7763669G>A	ENST00000358415.4	+	8	962	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E255K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	266					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAACTGCCGGGAGACTGCGGT	0.557000													20	74					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117303203	117303203	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:117303203G>T	ENST00000369478.3	+	3	670	c.562G>T	c.(562-564)Gca>Tca	p.A188S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	188	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAAGTGCACAGCAGGGAACAA	0.507000													3	43					0.00024832	0.000256597	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522743	23522743	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr5:23522743T>G	ENST00000296682.3	+	8	813	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	211					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGTCAGAACTTCTTCATTGA	0.498000										HNSCC(3;0.000094)			6	28					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131012753	131012753	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:131012753C>G	ENST00000352689.6	+	1	135	c.95C>G	c.(94-96)cCc>cGc	p.P32R	MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	32					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACCTACCTTCCCGAGTAAGTG	0.677000													6	19					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43225665	43225665	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:43225665C>T	ENST00000259750.4	+	10	1060	c.977C>T	c.(976-978)cCg>cTg	p.P326L	TTBK1_ENST00000304139.5_Missense_Mutation_p.P275L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	326						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTCTACCCCGCCCCAGCAG	0.617000													14	42					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001904	177001904	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:177001904G>A	ENST00000367654.2	-	3	566	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	ASTN1_ENST00000367657.3_Missense_Mutation_p.R185W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R185W|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R185W			O14525	ASTN1_HUMAN	astrotactin 1	185					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCGGGACCCGGCGGCGTTTG	0.612000													7	38					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253586	65253586	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr14:65253586C>A	ENST00000389722.3	-	15	3150	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	SPTB_ENST00000556626.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1033C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1033C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1033					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCGCTGACCAATATCCTCC	0.637000													17	54					6.49762e-13	7.46023e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947648	237947648	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:237947648C>T	ENST00000366574.2	+	90	12953	c.12636C>T	c.(12634-12636)aaC>aaT	p.N4212N	RYR2_ENST00000360064.6_Silent_p.N4218N|RYR2_ENST00000542537.1_Silent_p.N4196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4212					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGACTTGAACGAGAGGTCAG	0.542000													22	38					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242607594	242607594	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:242607594G>A	ENST00000405546.3	+	9	1271	c.769G>A	c.(769-771)Gga>Aga	p.G257R	ATG4B_ENST00000474739.2_Missense_Mutation_p.G243R|ATG4B_ENST00000396411.3_Missense_Mutation_p.G183R|ATG4B_ENST00000404914.3_Missense_Mutation_p.G257R|ATG4B_ENST00000402096.1_Missense_Mutation_p.G183R			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	257					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			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)		GGGCGTCATCGGAGGGAAGCC	0.642000													4	16					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38564418	38564418	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr21:38564418G>C	ENST00000399017.2	+	41	7868	c.5121G>C	c.(5119-5121)caG>caC	p.Q1707H	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1707H|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1707H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1707					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			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)				CACAGTCTCAGTTTGAAGAAC	0.348000													9	48					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195953981	195953981	+	Silent	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:195953981G>A	ENST00000296327.5	+	3	488	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		GGAAGAGCTCGGCACCCACGG	0.597000													5	63					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70714027	70714027	+	RNA	SNP	A	A	T	rs71448314	by1000genomes	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr14:70714027A>T	ENST00000530196.1	-	0	491					NR_003951.1																						ACTCAGGGGCACCCTCCACGT	0.493000													5	123					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													3	25					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74365745	74365745	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:74365745T>C	ENST00000226355.3	+	12	1540	c.1447T>C	c.(1447-1449)Tgt>Cgt	p.C483R		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	483	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAGAGTTATGTGGAGTAAA	0.378000													25	53					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498782	5498782	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:5498782C>T	ENST00000355029.4	+	12	1758	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	NET1_ENST00000542715.1_Missense_Mutation_p.S358F|NET1_ENST00000380359.3_Missense_Mutation_p.S485F	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	539					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGAGGGCATCCACAGTTTCC	0.562000													18	35					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640808	29640808	+	Silent	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:29640808G>T	ENST00000376883.1	-	6	1431	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	ZFP57_ENST00000376881.3_Silent_p.P340P|ZFP57_ENST00000488757.1_Silent_p.P360P			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	276					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TTCCAGTGATGGGTGCCTGGG	0.512000													5	187					0.00116845	0.0011876	1	1	0
RNF207	388591	broad.mit.edu	37	1	6279431	6279431	+	Silent	SNP	G	G	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:6279431G>C	ENST00000377939.4	+	18	1996	c.1869G>C	c.(1867-1869)ggG>ggC	p.G623G	RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	623						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGAAAAATGGGGGCGATGTCC	0.532000													8	19					0	0	1	0	0
FAM109B	150368	broad.mit.edu	37	22	42473682	42473682	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr22:42473682C>A	ENST00000321753.3	+	3	572	c.385C>A	c.(385-387)Cgc>Agc	p.R129S		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	129					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGGTGGTACGCGAGTTGGA	0.667000													11	44					4.68919e-08	5.1916e-08	1	1	0
PKD1	5310	broad.mit.edu	37	16	2160678	2160678	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr16:2160678C>A	ENST00000262304.4	-	15	4698	c.4490G>T	c.(4489-4491)aGc>aTc	p.S1497I	PKD1_ENST00000423118.1_Missense_Mutation_p.S1497I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1497	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGGTAGCTGGCGGGGCG	0.662000													3	35					0.115264	0.115264	1	1	0
MYH1	4619	broad.mit.edu	37	17	10408611	10408611	+	Silent	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:10408611A>G	ENST00000226207.5	-	21	2398	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	768	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCTTTGAAAAAGACCTATG	0.458000													25	72					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113818430	113818430	+	Splice_Site	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:113818430A>G	ENST00000393200.2	+	3	192	c.29_splice	c.e3-1	p.M11_splice	IL36RN_ENST00000346807.3_Splice_Site_p.M11_splice	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	11						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGTTTCAGAATGAAGGACTC	0.493000													17	16					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248457988	248457988	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:248457988G>A	ENST00000317996.1	-	1	892	c.893C>T	c.(892-894)gCc>gTc	p.A298V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CCGTTTCAGGGCTTCCTTGAC	0.468000													63	94					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043642	184043642	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:184043642G>A	ENST00000342981.4	+	20	3542	c.3128G>A	c.(3127-3129)cGt>cAt	p.R1043H	EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1042H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003H	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1042	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTCAGGCCGTGGACTTCCC	0.542000													4	309					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110545	20110545	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682000													22	35					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49211747	49211747	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:49211747G>A	ENST00000332780.2	+	3	661	c.452G>A	c.(451-453)cGt>cAt	p.R151H	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	151						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TATGAGCCCCGTCGGGACTGC	0.592000													4	88					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102967014	102967014	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:102967014G>T	ENST00000379263.3	-	5	798	c.548C>A	c.(547-549)aCc>aAc	p.T183N	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.T183N	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	183	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AAACACTGGGGTAAACACTTC	0.393000													11	36					4.68919e-08	5.1916e-08	1	1	0
MOGAT2	80168	broad.mit.edu	37	11	75440013	75440013	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr11:75440013C>T	ENST00000526712.1	+	4	1356	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	MOGAT2_ENST00000198801.5_Missense_Mutation_p.R277C			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	277					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AATACCCTACCGCCGGCCCAT	0.562000													35	51					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152747	100152747	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:100152747C>T	ENST00000370575.4	-	9	927	c.879G>A	c.(877-879)gcG>gcA	p.A293A	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	293							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTTGCGATCGCATCAGAGA	0.592000													14	35					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142416908	142416908	+	Splice_Site	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:142416908A>G	ENST00000337777.3	+	12	1583	c.1371_splice	c.e12+1	p.K457_splice	PLS1_ENST00000497002.1_Splice_Site_p.K457_splice|PLS1_ENST00000457734.2_Splice_Site_p.K457_splice	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	457	Actin-binding 2.|CH 3.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AACATGAAGAAGGTGAATGAA	0.408000													14	19					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181741295	181741295	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:181741295C>T	ENST00000526775.1	+	36	5175	c.5010C>T	c.(5008-5010)aaC>aaT	p.N1670N	CACNA1E_ENST00000358338.5_Silent_p.N1621N|CACNA1E_ENST00000367570.1_Silent_p.N1689N|CACNA1E_ENST00000360108.3_Silent_p.N1670N|CACNA1E_ENST00000367573.2_Silent_p.N1689N|CACNA1E_ENST00000367567.4_Silent_p.N1296N|CACNA1E_ENST00000357570.5_Silent_p.N1640N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1689					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGGGCAGAACGAGAACGAAC	0.562000													33	65					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957110	12957110	+	Silent	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:12957110G>A	ENST00000276297.4	-	9	3145	c.2736C>T	c.(2734-2736)caC>caT	p.H912H	DLC1_ENST00000520226.1_Silent_p.H401H|DLC1_ENST00000358919.2_Silent_p.H475H|DLC1_ENST00000512044.2_Silent_p.H509H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	912					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.H912H(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						TCCCCTTCACGTGGTAGAGGA	0.587000													6	63					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88240517	88240517	+	Silent	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:88240517G>A	ENST00000369536.5	-	9	801	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	252					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AAACCCGAATGTACTCTTCAA	0.473000													23	44					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552000													28	33					0	0	1	0	0
AL592494.5	0	broad.mit.edu	37	1	121139088	121139088	+	RNA	DEL	T	T	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:121139088delT	ENST00000417218.1	+	0	475				RP11-343N15.1_ENST00000437515.1_lincRNA																							GTCATCTTCATTGGCAGCCTG	0.672													2	4	---	---	---	---					
PRRT3	285368	broad.mit.edu	37	3	9991858	9991859	+	Splice_Site	INS	-	-	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:9991858_9991859insA	ENST00000412055.1	-	2	73		c.e2-2		PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3							integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGATGAGCCTAAAAAAAAAAC	0.574													2	4	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)del	p.L20del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													6	12	---	---	---	---					
SH3PXD2A	9644	broad.mit.edu	37	10	105452823	105452823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:105452823delG	ENST00000427662.2	-	1	107	c.21delC	c.(19-21)ttfs	p.F9fs	SH3PXD2A_ENST00000315994.6_Intron|SH3PXD2A_ENST00000369774.4_Intron|SH3PXD2A_ENST00000355946.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	0	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCTGAAAAAGAAGCAACAAC	0.652													8	21	---	---	---	---					
PHKA1	5255	broad.mit.edu	37	X	71819685	71819685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chrX:71819685delA	ENST00000373545.3	-	28	3365	c.2927delT	c.(2926-2928)tgfs	p.L976fs	PHKA1_ENST00000373539.3_Frame_Shift_Del_p.L1035fs|PHKA1_ENST00000339490.3_Intron|PHKA1_ENST00000373542.4_Intron|PHKA1_ENST00000541944.1_Intron			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1024					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CGGTGACATCAAATCTATACC	0.338													2	4	---	---	---	---