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
OR4A16	81327	broad.mit.edu	37	11	55110845	55110845	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:55110845A>G	uc010rie.2	+	0	169	c.169A>G	c.(169-171)Atg>Gtg	p.M57V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M57V(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGGCTCCCTAATGTACTTCTT	0.408000													9	257					0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73630358	73630358	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:73630358T>G	uc003uag.3	+	2	603	c.53T>G	c.(52-54)tTg>tGg	p.L18W	LAT2_uc003uah.3_Missense_Mutation_p.L18W|LAT2_uc003uai.3_Missense_Mutation_p.L18W|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	18					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	p.L18W(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTGGTGCTGTTGGGGGTGGCA	0.637000													6	43					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915809	186915809	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:186915809A>G	uc001gsc.3	+	10	1279	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K	PLA2G4A_uc010pos.2_Silent_p.K298K	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	358	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.K358K(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GCATGGCTAAATATGGTACTT	0.358000													23	121					0	0	1	0	0
C14orf149	112849	broad.mit.edu	37	14	59942813	59942813	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:59942813T>G	uc001xee.1	-	2	837	c.798A>C	c.(796-798)gaA>gaC	p.E266D		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	266							proline racemase activity	p.E266D(2)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	TTAATACCTGTTCATCTGCAA	0.348000													8	362					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:168105389C>T	uc002udx.3	+	8	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S2321F|XIRP2_uc010fpq.3_Missense_Mutation_p.S2274F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2321					actin cytoskeleton organization	cell junction	actin binding	p.S2496F(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTATTGACTCTGCAAACTGT	0.398000													9	172					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15342939	15342939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:15342939T>C	uc004cwr.3	-	4	1152	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	PIGA_uc010neu.3_Intron|PIGA_uc010nev.3_Missense_Mutation_p.I177V|PIGA_uc004cwq.3_Missense_Mutation_p.I31V|PIGA_uc004cws.3_Missense_Mutation_p.I31V|PIGA_uc011miq.2_Missense_Mutation_p.I112V	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	346					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	p.I346V(2)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCACATAAAATAATAAGGTTT	0.383000													5	118					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148206406	148206406	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:148206406C>T	uc003lpr.2	+	0	251	c.12C>T	c.(10-12)ccC>ccT	p.P4P	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	4					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.P4P(2)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGGGGCAACCCGGGAACGGCA	0.726000													7	88					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969899	87969899	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:87969899A>G	uc003plm.4	+	7	6593	c.6552A>G	c.(6550-6552)caA>caG	p.Q2184Q		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q2039Q(1)|p.K2184N(1)|p.Q2184Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTTCCAAGCAATTACTG	0.363000													8	449					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850178	71850178	+	Silent	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:71850178G>T	uc001ory.1	+	2	518	c.468G>T	c.(466-468)ggG>ggT	p.G156G	FOLR3_uc001orx.1_Silent_p.G113G			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	112					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.G156G(2)|p.G156W(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAACCTGGGGCCCTGGATCC	0.562000													6	48					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26982405	26982405	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr17:26982405C>T	uc002hbw.3	-	1	544	c.248G>A	c.(247-249)gGa>gAa	p.G83E	SDF2_uc002hbx.3_Non-coding_Transcript	NM_006923	NP_008854	Q99470	SDF2_HUMAN	Homo sapiens stromal cell-derived factor 2 (SDF2), transcript variant 1, mRNA.	83	MIR 2.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	p.G83E(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GATGGGGGTTCCCCTCTCACA	0.552000													8	189					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:54006701G>T	uc002acj.2	-	5	563	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_uc010bfi.1_Missense_Mutation_p.S174Y	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	174								p.S174Y(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCAAGAGAGAATCTTCTGT	0.383000													14	119					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	109					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:22709152G>T	uc010axw.2	-	10	1245	c.347C>A	c.(346-348)gCg>gAg	p.A116E	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GGCCTGGAGCGCTCCTGCCAC	0.607000													4	91					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:78647070C>A	uc001jxn.3	-	27	3842	c.3665G>T	c.(3664-3666)aGg>aTg	p.R1222M	KCNMA1_uc021ptu.1_Missense_Mutation_p.R1114M|KCNMA1_uc001jxj.2_Missense_Mutation_p.R1168M|KCNMA1_uc001jxk.1_Missense_Mutation_p.R840M|KCNMA1_uc009xrt.1_Missense_Mutation_p.R1013M|KCNMA1_uc001jxl.1_Missense_Mutation_p.R847M|KCNMA1_uc001jxo.3_Missense_Mutation_p.R1205M|KCNMA1_uc001jxm.3_Missense_Mutation_p.R1164M|KCNMA1_uc001jxq.3_Missense_Mutation_p.R1194M|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1222					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGGACTCCCTGGACTTGGG	0.552000													13	327					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:96579562A>G	uc001vmt.3	-	17	2176	c.2006T>C	c.(2005-2007)aTt>aCt	p.I669T		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	669					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.I669T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGAAAATCAATTGCATTCGT	0.303000													6	154					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895268	77895268	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:77895268G>A	uc002lnw.3	+	3	2427	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	658					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G658S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCCCGGCATGCCCTC	0.632000													3	69					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	rs149551378	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:8176568G>A	uc002mjf.3	-	30	4065	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1350	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1350C(2)|p.R1350H(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGCCCTGGCGGCAGGTGCAG	0.632000													12	43					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114161711	114161711	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr4:114161711G>A	uc003ibe.4	+	7	864	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ANK2_uc003ibd.4_Missense_Mutation_p.R234Q|ANK2_uc003ibf.4_Missense_Mutation_p.R255Q|ANK2_uc003ibc.2_Missense_Mutation_p.R231Q|ANK2_uc011cgb.1_Missense_Mutation_p.R270Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	255					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R255Q(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCTAAACCGGGGAGCTGCT	0.393000													30	175					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928742	18928742	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:18928742G>A	uc003zni.2	-	3	1083	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM154A_uc010mip.2_Missense_Mutation_p.R53W	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	245								p.R245W(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATCAGGCCCCGGTAGGATTGT	0.532000													21	92					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446630	92446630	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:92446630C>T	uc001dol.4	+	10	2063	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	BRDT_uc010osz.2_Missense_Mutation_p.P553S|BRDT_uc001dok.4_Missense_Mutation_p.P549S|BRDT_uc009wdf.3_Missense_Mutation_p.P476S|BRDT_uc010otb.2_Missense_Mutation_p.P503S|BRDT_uc010ota.2_Missense_Mutation_p.P503S|BRDT_uc001dom.4_Missense_Mutation_p.P549S	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.P549S(3)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAATTCCAATCCTGATGAGAT	0.368000													5	141					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255333	30255333	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:30255333A>G	uc002ymo.1	-	1	221	c.195T>C	c.(193-195)tcT>tcC	p.S65S	N6AMT1_uc002ymp.1_Silent_p.S65S|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	65					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.S65S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333000													24	125					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73337740	73337740	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:73337740G>T	uc001vix.4	-	15	2350	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K	DIS3_uc001viy.4_Missense_Mutation_p.T629K|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	659					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding	p.T659K(2)|p.E658G(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CATGGAATTTGTTTCCCTGCC	0.318000										Multiple Myeloma(4;0.011)			8	46					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87104731	87104731	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:87104731C>T	uc003uiv.1	-	1	127	c.51G>A	c.(49-51)gcG>gcA	p.A17A	ABCB4_uc003uiw.1_Silent_p.A17A|ABCB4_uc003uix.1_Silent_p.A17A|ABCB4_uc003uiy.3_Silent_p.A17A	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	17					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A17A(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGTCGCCCTCCGCGCTCGTGG	0.577000													13	93					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:2912357C>G	uc001qkz.3	+	9	1511	c.1313C>G	c.(1312-1314)aCa>aGa	p.T438R		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	438					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.T438R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CCCACTGACACAGAGATGAAG	0.557000													2	14					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:19154390T>A	uc002kth.1	-	3	1349	c.415A>T	c.(415-417)Aga>Tga	p.R139*	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	139					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.R139*(2)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAATTTCTCTACTGCGTAAC	0.373000													14	860					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:45269352G>T	uc001cmn.3	+	8	1253	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	385						membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.A346S(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATCAGGATGCCAGGCCAGA	0.597000													7	38					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11373509	11373509	+	Silent	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:11373509G>A	uc001mjp.3	-	0	1396	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	386					Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.A385D(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAGCGCCAGTGGCAGCTGGAA	0.622000													7	12					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853612	176853612	+	Missense_Mutation	SNP	G	G	A	rs143440206	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:176853612G>A	uc001glc.3	-	18	3301	c.3089C>T	c.(3088-3090)aCg>aTg	p.T1030M	ASTN1_uc001glb.1_Missense_Mutation_p.T1030M|ASTN1_uc001gld.1_Missense_Mutation_p.T1030M	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1038	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.T1030M(2)		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						CTCGTGAACCGTGGAGAGTCT	0.517000													22	119					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465386	58465386	+	Missense_Mutation	SNP	G	G	A	rs143617963	by1000genomes	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:58465386G>A	uc002aez.2	+	2	715	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.V55I	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	120					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.V120I(2)|p.T119T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCTGCAACCGTCTTTGGCAT	0.463000													8	346					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:101049201A>G	uc003dut.3	-	19	2839	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_uc003duu.3_Missense_Mutation_p.S845P|SENP7_uc003duv.3_Missense_Mutation_p.S877P|SENP7_uc003duw.3_Missense_Mutation_p.S844P|SENP7_uc003dux.3_Missense_Mutation_p.S746P|SENP7_uc003dus.3_Missense_Mutation_p.S98P	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	910	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACTCAAAGACAGTGTCGAA	0.328000													3	98					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109746677	109746677	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:109746677G>C	uc004bcz.3	+	9	7332	c.7043G>C	c.(7042-7044)cGg>cCg	p.R2348P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.R2257P|ZNF462_uc004bda.3_Missense_Mutation_p.R2256P|ZNF462_uc011lvz.2_Missense_Mutation_p.R305P|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2348					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2348P(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCACCTTCGGGATGAGCAT	0.527000													20	104					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940433	76940433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:76940433A>C	uc004ecp.4	-	7	892	c.660T>G	c.(658-660)tgT>tgG	p.C220W	ATRX_uc004ecq.4_Missense_Mutation_p.C182W|ATRX_uc004eco.4_Missense_Mutation_p.C5W|ATRX_uc004ecr.2_Missense_Mutation_p.C181W|ATRX_uc010nlx.1_Missense_Mutation_p.C220W|ATRX_uc010nly.1_Missense_Mutation_p.C165W	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	220	ADD.		C -> R (in ATRX).|C -> Y (in MRXSHF1).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.C220W(3)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTACCTACCTACATTGTTCAT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	134					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593930	135593930	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:135593930T>G	uc004ezw.3	+	9	2448	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	HTATSF1_uc004ezx.3_Missense_Mutation_p.S676A	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding	p.S676A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403000													6	66					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:74426317G>A	uc002axd.3	+	3	1991	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	ISLR2_uc002axe.3_Missense_Mutation_p.V408I|ISLR2_uc010bjg.3_Missense_Mutation_p.V408I|ISLR2_uc010bjf.3_Missense_Mutation_p.V408I|ISLR2_uc021sqe.1_Missense_Mutation_p.V408I	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	408					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.V408I(2)|p.S407R(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCAACAGCGTCCTGCCTTC	0.662000													3	19					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:53855284G>A	uc010ydv.1	+	3	1473	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_uc010ydw.1_Silent_p.S452S	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S452S(4)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398000													5	164					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:32871615A>G	uc010skh.1	+	7	858	c.856A>G	c.(856-858)Atg>Gtg	p.M286V	DNM1L_uc010skf.1_Non-coding_Transcript|DNM1L_uc010skg.1_Intron|DNM1L_uc001rld.2_Missense_Mutation_p.M220V|DNM1L_uc001rle.2_Missense_Mutation_p.M220V|DNM1L_uc001rlf.2_Missense_Mutation_p.M220V|DNM1L_uc001rlg.2_Missense_Mutation_p.M286V|DNM1L_uc001rlh.2_Missense_Mutation_p.M273V|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	220	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.M220V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTGATCTCATGGATGCGGG	0.388000													14	312					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029415	41029415	+	Silent	SNP	G	G	A	rs140342245	by1000genomes	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:41029415G>A	uc003opl.3	+	1	627	c.480G>A	c.(478-480)ccG>ccA	p.P160P	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	160					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding	p.P160P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGAGGAGCCGGAGATCCAGG	0.537000													34	143					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766012	43766012	+	Splice_Site	SNP	G	G	A	rs143780806	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:43766012G>A	uc002owd.4	-	3	808	c.709_splice	c.e3+1	p.P237_splice	PSG9_uc002owe.4_Splice_Site_p.H237_splice|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Splice_Site_p.H237_splice	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	237					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.522000													8	494					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52819213	52819213	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:52819213A>C	uc001ctq.2	-	23	2706	c.2555T>G	c.(2554-2556)gTt>gGt	p.V852G	CC2D1B_uc001ctr.3_Missense_Mutation_p.V392G|CC2D1B_uc001cts.3_Intron	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	852								p.V852G(2)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGCTCCAGAACCAGCCAGTT	0.582000													6	18					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:6659137G>A	uc001aoa.3	-	1	1449	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	KLHL21_uc001anz.1_Missense_Mutation_p.A466V|KLHL21_uc009vme.3_Missense_Mutation_p.A99V	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	466					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.A466V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTTTAGAGTCGCAGTCTTGGG	0.592000													3	21					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:50332156C>A	uc021wyn.1	-	1	964	c.878G>T	c.(877-879)gGg>gTg	p.G293V	HYAL3_uc003cze.2_Missense_Mutation_p.G44V|HYAL3_uc003czf.2_Missense_Mutation_p.G44V|HYAL3_uc003czd.2_Missense_Mutation_p.G293V|HYAL3_uc003czg.2_Missense_Mutation_p.G293V	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	293					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.G293V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGAACCTCCCAGATCTCCG	0.612000													27	119					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:151161999A>C	uc011eem.1	+	15	4390	c.4302A>C	c.(4300-4302)aaA>aaC	p.K1434N	PLEKHG1_uc003qny.1_Missense_Mutation_p.K1375N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1375					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K1375N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAGGGAAAAATTTCAGTGTC	0.363000													28	195					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:22056252C>A	uc010odq.2	-	9	1480	c.1242G>T	c.(1240-1242)atG>atT	p.M414I	USP48_uc001bfb.3_Missense_Mutation_p.M415I|USP48_uc009vqc.3_Missense_Mutation_p.M415I|USP48_uc001bfc.3_Missense_Mutation_p.M415I|USP48_uc001bfe.1_Missense_Mutation_p.M414I|USP48_uc001bff.3_Missense_Mutation_p.M415I	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	415					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.M415I(2)|p.A413A(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATAAACCAACATATATGCAT	0.398000													11	304					0	0	1	0	0
LOC729156	729156	broad.mit.edu	37	7	66296183	66296183	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:66296183G>A	uc003tvj.1	-	7		c.684_splice	c.e7+1							Homo sapiens GTF2I repeat domain containing 1-like (LOC729156), non-coding RNA.																		CATTTCTTACGTGTCAGCATC	0.567000													6	39					0	0	1	0	0
BX647938	0	broad.mit.edu	37	12	9713413	9713413	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:9713413A>G	uc001qwb.1	+	5		c.608_splice	c.e5-1							Homo sapiens mRNA; cDNA DKFZp686A1124 (from clone DKFZp686A1124).																		TGTATTACAGACTCAGTGCTC	0.358000													3	8					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36039876	36039876	+	Silent	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:36039876T>G	uc001wtj.3	-	37	6316	c.5925A>C	c.(5923-5925)acA>acC	p.T1975T	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Silent_p.T1975T|RALGAPA1_uc010tpv.2_Silent_p.T1988T|RALGAPA1_uc010tpw.1_Silent_p.T2022T	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1975	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.T1975T(3)|p.T1975R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTTATAGCTGTTGCTCTAA	0.363000													4	66					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42133437	42133437	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:42133437G>A	uc001zoo.4	+	10	1134	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.R365H|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.R134H|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	134	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.R365H(2)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGGGCTGACCGTGGCGAGTGG	0.652000													25	197					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	-	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	uc001hnu.2	+	9	3727_3749	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	c.(3400-3423)cttggaccacagggtacctgtggtfs	p.L1134fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1134					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT	0.480													8	186	---	---	---	---					
MSTN	2660	broad.mit.edu	37	2	190925125	190925125	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:190925125delC	uc002urp.3	-	1	543	c.410delG	c.(409-411)tgtfs	p.C137fs		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	137					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAGAAGCAACATTTGGGTTT	0.328													10	160	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													3	3	---	---	---	---					
ZDHHC20	253832	broad.mit.edu	37	13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	-	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:21987884_21987895delGTTCCTTTTCAG	uc001uoa.2	-	3	464_475	c.266_277delCTGAAAAGGAAC	c.(265-279)tctgaaaaggaacgt>tgt	p.89_93SEKER>C	ZDHHC20_uc001uod.3_Non-coding_Transcript|ZDHHC20_uc001uoc.3_Non-coding_Transcript|ZDHHC20_uc001uoe.3_Non-coding_Transcript|ZDHHC20_uc010tcs.2_In_Frame_Del_p.26_30SEKER>C	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	Homo sapiens zinc finger, DHHC-type containing 20 (ZDHHC20), mRNA.	89						integral to membrane	acyltransferase activity|zinc ion binding	p.K91N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTCATAACGTTCCTTTTCAGAATTGGACAA	0.302													8	83	---	---	---	---					
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr16:85743879_85743881delGCT	uc002fjc.4	-	2	237_239	c.61_63delAGC	c.(61-63)agcdel	p.S21del		NM_206967	NP_996850	Q96GX8	CP074_HUMAN	Homo sapiens chromosome 16 open reading frame 74 (C16orf74), mRNA.	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635													3	4	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	-	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr22:23959767_23959769delCAT	uc002zxf.3	-	6	810_812	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													8	218	---	---	---	---					
