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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SYTL4	94121	broad.mit.edu	37	X	99933584	99933584	+	Silent	SNP	G	A	A	rs144944700	byFrequency	TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:99933584G>A	uc004egd.4	-	17	2027	c.1671C>T	c.(1669-1671)ccC>ccT	p.P557P	SYTL4_uc004egc.3_5'UTR|SYTL4_uc010nnb.3_Silent_p.P229P|SYTL4_uc010nnc.3_Silent_p.P557P|SYTL4_uc004ege.4_Silent_p.P557P|SYTL4_uc004egf.4_Silent_p.P557P	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	557	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTTCCTCATGGGAAGGAGGT	0.493000														56			3		0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102276323	102276323	+	Missense_Mutation	SNP	C	T	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:102276323C>T	uc001yko.3	+	0	184	c.44C>T	c.(43-45)gCg>gTg	p.A15V	PPP2R5C_uc001ykj.4_Intron|PPP2R5C_uc010txr.2_Intron|PPP2R5C_uc001ykk.3_Intron|PPP2R5C_uc010txt.2_Missense_Mutation_p.A5V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A15V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A15V|PPP2R5C_uc010txs.1_Missense_Mutation_p.A5V	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	15					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTGGTGGATGCGGCCAACTCC	0.498000														50			3		0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1636450	1636450	+	Missense_Mutation	SNP	G	C	C			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:1636450G>C	uc009vks.3	-	12	1459	c.1351C>G	c.(1351-1353)Cta>Gta	p.L451V	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Missense_Mutation_p.L68V|CDK11B_uc009vkq.3_Non-coding_Transcript|CDK11B_uc009vkr.3_Missense_Mutation_p.L441V|CDK11B_uc010nys.2_Missense_Mutation_p.L441V|CDK11B_uc010nyt.1_Missense_Mutation_p.L451V	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	466	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGCCGCTTTAGAGCCACAATT	0.527000														61			34		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299510	125299510	+	Missense_Mutation	SNP	A	T	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:125299510A>T	uc004euk.2	-	0	571	c.398T>A	c.(397-399)aTc>aAc	p.I133N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	133								p.R132L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CATGAGGGGGATGCGCGTGAT	0.642000														55			4		0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69522320	69522320	+	Silent	SNP	G	A	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:69522320G>A	uc001xkp.3	-	8	1302	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	DCAF5_uc001xkq.3_Silent_p.S360S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	361						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTATGGGCTCCAGATCT	0.473000														74			47		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724384	49724384	+	Missense_Mutation	SNP	C	G	G			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:49724384C>G	uc003cxg.3	-	5	796	c.724G>C	c.(724-726)Ggc>Cgc	p.G242R	MST1_uc011bcs.1_Splice_Site_p.G242_splice|MST1_uc010hkx.2_Missense_Mutation_p.G163R|MST1_uc011bct.1_Missense_Mutation_p.G242R|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	228	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGTACTTGCCCGGCTCGAAG	0.697000														20			11		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961815	100961815	+	Missense_Mutation	SNP	G	A	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr9:100961815G>A	uc011lvb.2	-	12	2815	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	TBC1D2_uc004ayp.3_Missense_Mutation_p.R419W|TBC1D2_uc004ayq.3_Missense_Mutation_p.R868W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R661W	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	879						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.R868W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCAGCTGCCGCAGCTGTTTC	0.637000														151			7		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494406	149494406	+	Missense_Mutation	SNP	G	T	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:149494406G>T	uc010lpk.3	+	45	6868	c.6868G>T	c.(6868-6870)Ggg>Tgg	p.G2290W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2293					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGCCGGGGCAGCTGCT	0.662000														46			3		1	1	1	1	0
LAMP3	27074	broad.mit.edu	37	3	182871615	182871615	+	Missense_Mutation	SNP	G	A	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:182871615G>A	uc003flh.4	-	1	838	c.614C>T	c.(613-615)gCt>gTt	p.A205V		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	205	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGCAGGTGCAGCTGTGCGGGT	0.547000														105			4		0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174169178	174169178	+	Silent	SNP	A	G	G			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr4:174169178A>G	uc003isz.4	+	1	257	c.174A>G	c.(172-174)ggA>ggG	p.G58G		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	58					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GCGGCAATGGACTAGCTCCTG	0.478000														73			5		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					62			23		0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887369	179887369	+	Silent	SNP	T	C	C			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:179887369T>C	uc001gnq.3	+	9	1965	c.1747T>C	c.(1747-1749)Tta>Cta	p.L583L		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	583						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGGCATCTGCTTATAAGAAGT	0.418000														41			3		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758279	116758279	+	Missense_Mutation	SNP	C	T	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr6:116758279C>T	uc011ebg.2	+	5	2804	c.2705C>T	c.(2704-2706)gCa>gTa	p.A902V	DSE_uc003pws.3_Missense_Mutation_p.A883V|DSE_uc003pwt.3_Missense_Mutation_p.A883V|DSE_uc003pwu.3_Missense_Mutation_p.A550V	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	883					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGGACAGGCACGGATGGTG	0.418000														56			37		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443214	4443214	+	Silent	SNP	G	A	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr17:4443214G>A	uc002fxz.4	-	25	3545	c.3483C>T	c.(3481-3483)acC>acT	p.T1161T	MYBBP1A_uc002fyb.4_Silent_p.T1161T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Silent_p.T106T|MYBBP1A_uc010vsa.2_Silent_p.T203T	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1161	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGGCTCTGGGTGGCACTGG	0.572000														133			13		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42471325	42471325	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr19:42471325G>T	uc002osh.3	-	21	3243	c.3089C>A	c.(3088-3090)tCg>tAg	p.S1030*	ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	0					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGCAGGGCGAGGGGAGCCT	0.667000														8			2		1	1	1	1	0
PLK2	10769	broad.mit.edu	37	5	57751948	57751948	+	Missense_Mutation	SNP	G	A	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr5:57751948G>A	uc003jrn.3	-	9	1469	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	PLK2_uc021xyx.1_Missense_Mutation_p.S416F	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	430					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGGTGTTCCAGACCTGGCAAC	0.473000														79			5		0	0	1	0	0
