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
GALNTL2	117248	broad.mit.edu	37	3	16237310	16237310	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr3:16237310G>A	uc003car.4	+	1	1058	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	GALNTL2_uc003caq.4_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	195	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CACAGCCAGCGTCATCCTCTG	0.587000														51			5		0	0	1.23904e-05	0	0
ZNF275	10838	broad.mit.edu	37	X	152612596	152612596	+	Silent	SNP	C	T	T			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chrX:152612596C>T	uc011myn.2	+	1	1166	c.264C>T	c.(262-264)caC>caT	p.H88H	ZNF275_uc004fhg.2_Silent_p.H151H|ZNF275_uc022cht.1_Silent_p.H88H|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	151						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAAAGCCACGTAGCTGCGG	0.627000														35			8		0	0	1.12685e-05	0	0
VPS13B	157680	broad.mit.edu	37	8	100568870	100568870	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr8:100568870T>G	uc003yiv.3	+	30	5124	c.5013T>G	c.(5011-5013)aaT>aaG	p.N1671K	VPS13B_uc003yiw.3_Missense_Mutation_p.N1646K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1671					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGAGTGGAATATGGCCAGCA	0.428000														30			23		0	0	7.16444e-05	0	0
FAM211B	388886	broad.mit.edu	37	22	24982184	24982184	+	Silent	SNP	C	T	T			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr22:24982184C>T	uc003aaq.2	-	3	647	c.618G>A	c.(616-618)gcG>gcA	p.A206A	GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_Non-coding_Transcript	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA.	206																	GGCGGGGCAGCGCCCACAGGC	0.657000														79			8		0	0	2.17888e-05	0	0
RBM23	55147	broad.mit.edu	37	14	23378704	23378705	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr14:23378704_23378705CC>AA	uc001whg.3	-	2	365_366	c.166_167GG>TT	c.(166-168)ggg>TTg	p.G56L	RBM23_uc001whh.3_Missense_Mutation_p.G56L|RBM23_uc001whi.3_Missense_Mutation_p.G56L|RBM23_uc010tne.2_Intron|RBM23_uc001whj.3_Intron|RBM23_uc001whk.1_Missense_Mutation_p.G56L	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	56					mRNA processing	nucleus	RNA binding|nucleotide binding	p.G56V(2)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCTTGTCTCCCCGATGGTGCTG	0.465000														423			10		0	0	6.4e-05	0	0
CACNG3	10368	broad.mit.edu	37	16	24366269	24366269	+	Silent	SNP	C	T	T			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr16:24366269C>T	uc002dmf.3	+	2	1613	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	137					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCATTCTCAGCGCGGGCATCT	0.577000														38			6		0	0	8.12818e-05	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964944	88964944	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr7:88964944T>C	uc011khi.2	+	3	3186	c.2648T>C	c.(2647-2649)cTg>cCg	p.L883P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	883						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTGTGATCTGGGAAAAGTC	0.433000										HNSCC(36;0.09)				44			7		0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179504471	179504471	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr2:179504471G>A	uc021vsy.1	-	171	33352	c.33127C>T	c.(33127-33129)Ccc>Tcc	p.P11043S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P4738S|TTN_uc021vta.1_Missense_Mutation_p.P4671S|TTN_uc021vtb.1_Missense_Mutation_p.P4546S|TTN_uc010fre.1_Missense_Mutation_p.P921S|TTN_uc002umw.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11970	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGCGATGGGGGTTGGTTCA	0.403000														40			7		0	0	2.17888e-05	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130407387	130407388	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr6:130407387_130407388CG>AT	uc003qbt.3	+	15	1686_1687	c.1510_1511CG>AT	c.(1510-1512)cgg>ATg	p.R504M	L3MBTL3_uc003qbu.3_Missense_Mutation_p.R479M	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	504					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGATGATCACCGGGTAAAAGTA	0.386000														260			8		0	0	6.4e-05	0	0
OR5T3	390154	broad.mit.edu	37	11	56020308	56020308	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr11:56020308G>C	uc010rjd.2	+	0	633	c.633G>C	c.(631-633)atG>atC	p.M211I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTGTGATATGCCTCCTCTCC	0.413000														190			23		0	0	4.16121e-05	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900243	4900244	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr7:4900243_4900244CG>AT	uc003snk.3	-	0	1382_1383	c.1198_1199CG>AT	c.(1198-1200)cga>ATa	p.R400I	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	399					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AACCAGGATTCGGATCTTTGAT	0.396000														204			8		0	0	6.4e-05	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391731	22391731	+	Silent	SNP	C	T	T			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr11:22391731C>T	uc001mqk.3	+	7	1451	c.1038C>T	c.(1036-1038)agC>agT	p.S346S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	346					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTGAAATTAGCAAGGTATGTA	0.279000														52			6		0	0	1.12685e-05	0	0
GORASP1	64689	broad.mit.edu	37	3	39144332	39144332	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr3:39144332T>C	uc003ciw.1	-	2	283	c.185A>G	c.(184-186)aAt>aGt	p.N62S	GORASP1_uc003civ.1_Non-coding_Transcript|GORASP1_uc003cix.1_Non-coding_Transcript|GORASP1_uc003ciy.1_Non-coding_Transcript|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Homo sapiens golgi reassembly stacking protein 1, 65kDa (GORASP1), mRNA.	62	PDZ.				mitotic prophase|protein transport	Golgi apparatus|cytosol|membrane		p.A61A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTTCTCCACATTGGCTTTCAG	0.592000														141			14		0	0	3.45872e-05	0	0
abParts	0	broad.mit.edu	37	14	107095544	107095544	+	RNA	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr14:107095544G>A	uc021ser.1	-	112		c.4952C>T								Parts of antibodies, mostly variable regions.																		GGAGGAGGAAGAACCACAGGT	0.527000														21			5		0	0	8.12818e-05	0	0
ATP9A	10079	broad.mit.edu	37	20	50235227	50235227	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr20:50235227C>A	uc002xwg.1	-	20	2324	c.2324G>T	c.(2323-2325)cGc>cTc	p.R775L	ATP9A_uc010gih.1_Missense_Mutation_p.R639L|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	775					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTGCCCGTGCGCTCCTGAAG	0.647000														132			6		2.7689e-08	1.27448e-06	8.12818e-05	1	0
TLL1	7092	broad.mit.edu	37	4	166981216	166981216	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr4:166981216C>T	uc003irh.2	+	14	2530	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I	TLL1_uc011cjn.2_Missense_Mutation_p.T651I|TLL1_uc011cjo.2_Missense_Mutation_p.T452I	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	628	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTAACGGCACCATAACCACC	0.463000														45			6		0	0	3.59834e-05	0	0
PARP14	54625	broad.mit.edu	37	3	122419866	122419866	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr3:122419866C>G	uc003efq.4	+	5	2524	c.2465C>G	c.(2464-2466)gCa>gGa	p.A822G	PARP14_uc021xdc.1_Missense_Mutation_p.A686G|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.A539G|PARP14_uc003efs.1_Missense_Mutation_p.A539G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	822	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTGGTGAATGCATCTAATGAG	0.572000														62			11		0	0	6.40141e-05	0	0
FXR2	9513	broad.mit.edu	37	17	7497597	7497597	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr17:7497597G>A	uc002gia.2	-	9	1344	c.979C>T	c.(979-981)Cga>Tga	p.R327*		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	327						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCCACTCGAACCCTCACC	0.468000														26			6		0	0	1.12685e-05	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														6			3		0	0	6.4e-05	0	0
DSG3	1830	broad.mit.edu	37	18	29041337	29041337	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr18:29041337G>A	uc002kws.3	+	7	1070	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	321	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACAAACTGATCCTAGAAC	0.343000														52			8		0	0	3.86212e-05	0	0
TXNRD1	7296	broad.mit.edu	37	12	104712772	104712772	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr12:104712772G>A	uc021rcx.1	+	7	834	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	TXNRD1_uc021rcy.1_Missense_Mutation_p.R173Q|TXNRD1_uc021rcz.1_Missense_Mutation_p.R121Q|TXNRD1_uc021rda.1_Missense_Mutation_p.R121Q|TXNRD1_uc021rdb.1_Missense_Mutation_p.R121Q|TXNRD1_uc010swp.2_Missense_Mutation_p.R83Q|TXNRD1_uc010swq.2_Missense_Mutation_p.R171Q|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.R187Q	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	271					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GTAGCTCTGCGGGAGAAAAAA	0.383000														64			7		0	0	0.000157383	0	0
IGSF9	57549	broad.mit.edu	37	1	159900501	159900501	+	Silent	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr1:159900501G>A	uc001fur.2	-	13	1992	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	IGSF9_uc001fuq.2_Silent_p.I582I|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	598	Fibronectin type-III 1.					cell junction|integral to membrane|synapse		p.I582I(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGACAAGACGATTTCGCTGA	0.607000														53			7		0	0	8.12818e-05	0	0
FRY	10129	broad.mit.edu	37	13	32768296	32768296	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr13:32768296G>A	uc001utx.3	+	28	4104	c.3608G>A	c.(3607-3609)tGc>tAc	p.C1203Y	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAACTTGGCTGCGAAGTTGTT	0.368000														86			16		0	0	7.07596e-05	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444257	26444257	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr6:26444257A>C	uc003nhz.3	+	3	401	c.158A>C	c.(157-159)cAc>cCc	p.H53P	BTN3A3_uc011dkn.2_Missense_Mutation_p.H11P|BTN3A3_uc021ynh.1_Missense_Mutation_p.H11P	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	53	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTGCCCTGTCACCTGTTCCCG	0.567000														114			17		0	0	9.7654e-05	0	0
NUP62	23636	broad.mit.edu	37	19	50412893	50412893	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr19:50412893C>A	uc002prb.3	-	1	416	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.G58C|NUP62_uc002pqy.3_Missense_Mutation_p.G58C|NUP62_uc002pra.3_Missense_Mutation_p.G58C|NUP62_uc002pqz.3_Missense_Mutation_p.G58C|NUP62_uc002prc.3_Missense_Mutation_p.G58C|NUP62_uc021uya.1_Missense_Mutation_p.G58C	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	58	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAGAACAGGCCGGTGGAAGGG	0.547000														148			17		1.2644e-06	5.65821e-05	0.000175454	1	0
CSNK1A1	1452	broad.mit.edu	37	5	148891414	148891414	+	Silent	SNP	T	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr5:148891414T>C	uc003lqw.1	-	6	1182	c.702A>G	c.(700-702)tcA>tcG	p.S234S	CSNK1A1_uc011dcb.1_Silent_p.S115S|CSNK1A1_uc011dcc.2_Silent_p.S145S|CSNK1A1_uc003lqx.1_Silent_p.S206S|CSNK1A1_uc003lqy.1_Silent_p.S206S|CSNK1A1_uc010jha.1_Silent_p.S206S	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	206	Protein kinase.				Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CATATCCTAATGATTCCATGT	0.338000														116			5		0	0	1.23904e-05	0	0
USP54	159195	broad.mit.edu	37	10	75302825	75302825	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr10:75302825G>A	uc001juo.3	-	3	457	c.440C>T	c.(439-441)gCc>gTc	p.A147V	USP54_uc001jum.3_5'Flank|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.A147V|USP54_uc010qkl.1_Missense_Mutation_p.A147V|USP54_uc001juq.1_5'Flank	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	147					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.A147V(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTTGGGCAGTACATAT	0.388000														85			11		0	0	2.31682e-05	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966031	88966031	+	Silent	SNP	T	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr7:88966031T>C	uc011khi.2	+	3	4273	c.3735T>C	c.(3733-3735)ccT>ccC	p.P1245P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1245						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTCAGTCCTATTTCATTTT	0.473000										HNSCC(36;0.09)				82			23		0	0	5.49717e-05	0	0
FAM40A	85369	broad.mit.edu	37	1	110584240	110584240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr1:110584240C>T	uc001dza.1	+	6	752	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM40A_uc001dyz.1_Missense_Mutation_p.R150W|FAM40A_uc009wfp.1_Missense_Mutation_p.R69W	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	245						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GAGGACCATGCGGCAGACCTT	0.592000														65			7		0	0	1.12685e-05	0	0
LPIN2	9663	broad.mit.edu	37	18	2960762	2960762	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr18:2960762G>C	uc002klo.3	-	1	316	c.77C>G	c.(76-78)aCc>aGc	p.T26S		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	26	N-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	p.A25D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCCAGAGAGGGTGGCCTGGTT	0.493000														41			8		0	0	3.86212e-05	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24981829	24981829	+	Splice_Site	SNP	C	A	A			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr16:24981829C>A	uc002dnb.3	-	4	365	c.272_splice	c.e4+1	p.G91_splice	ARHGAP17_uc002dnc.3_Splice_Site_p.G91_splice|ARHGAP17_uc010vcf.2_Intron|ARHGAP17_uc002dng.1_Splice_Site_p.G91_splice	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	91	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AACTCTTACCCCAGGAGAGAG	0.498000														140			6		8.12818e-05	0.00353906	8.12818e-05	1	0
TMEM54	113452	broad.mit.edu	37	1	33361571	33361572	+	Splice_Site	INS	-	TG	TG			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr1:33361571_33361572insTG	uc001bwi.1	-	3	325	c.211_splice	c.e3-1	p.V71_splice	TMEM54_uc001bwj.1_Intron|TMEM54_uc001bwk.1_Intron	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	71						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGTGATGACCTGTAGGGAAGG	0.609													---	29	---	---	9	---					
EIF4A2	1974	broad.mit.edu	37	3	186507006	186507007	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr3:186507006_186507007delTC	uc003fqs.3	+	10	1211_1212	c.1172_1173delTC	c.(1171-1173)ttcfs	p.F391fs	EIF4A2_uc003fqu.3_Frame_Shift_Del_p.F392fs|EIF4A2_uc003fqv.3_Frame_Shift_Del_p.F296fs|EIF4A2_uc003fqw.3_Frame_Shift_Del_p.F296fs|EIF4A2_uc011bsb.2_3'UTR	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	391	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATTGAGACTTTCTACAATACTA	0.446			T	BCL6	NHL								---	222	---	---	23	---					
ZNF518B	85460	broad.mit.edu	37	4	10445874	10445874	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr4:10445874delC	uc003gmn.3	-	2	2566	c.2079delG	c.(2077-2079)gggfs	p.G693fs	ZNF518B_uc021xme.1_Frame_Shift_Del_p.G693fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGATGCCTGCCCTACAGAGC	0.458													---	72	---	---	15	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													---	6	---	---	5	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	-	-	rs2234451	byFrequency	TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr11:5529918_5529920delTGG	uc021qcw.1	-	0	869_871	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													---	160	---	---	9	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Frame_Shift_Ins	INS	-	G	G	rs141646579	by1000genomes	TCGA-ER-A196-01A-11D-A197-08	TCGA-ER-A196-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0b4e60a-7023-429a-89c4-2e6782a64a9b	42380b0d-4a82-4698-953c-6277122a00c6	g.chr12:7080210_7080211insG	uc001qsh.4	+	0	267_268	c.124_125insG	c.(124-126)agtfs	p.S42fs	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													---	6	---	---	3	---					
