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	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	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_status	validation_method	validation_tumor_sample	validation_alt_allele
ANP32E	81611	broad.mit.edu	37	1	150199259	150199259	+	Intron	DEL	T	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150199259delT	uc001etw.2	-						ANP32E_uc010pbt.1_5'Flank|ANP32E_uc010pbu.1_Intron|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Intron|ANP32E_uc010pbw.1_Intron	NM_030920	NP_112182			acidic (leucine-rich) nuclear phosphoprotein 32							cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209757884	209757886	+	Intron	DEL	CAC	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209757884_209757886delCAC	uc001hhd.2	+						CAMK1G_uc001hhf.3_Intron|CAMK1G_uc001hhe.2_Intron	NM_020439	NP_065172			calcium/calmodulin-dependent protein kinase IG							Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)														---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32312764	32312764	+	Intron	DEL	T	-	-	rs72286744		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32312764delT	uc002roc.2	+						SPAST_uc002rod.2_Intron	NM_014946	NP_055761			spastin isoform 1						cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
Unknown	0	broad.mit.edu	37	2	44293377	44293377	+	IGR	DEL	G	-	-	rs61062797		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44293377delG								LRPPRC (70233 upstream) : PPM1B (102623 downstream)																																			---	---	---	---
RGPD1	400966	broad.mit.edu	37	2	87204958	87204958	+	Intron	DEL	T	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87204958delT	uc010fgv.2	+						RMND5A_uc002srs.3_Intron|RGPD1_uc002ssb.2_Intron|RGPD1_uc002ssc.2_Intron	NM_001024457	NP_001019628			RANBP2-like and GRIP domain containing 1						intracellular transport		binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89399858	89399859	+	Intron	INS	-	AA	AA			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89399858_89399859insAA	uc010ytr.1	-						uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119128712	119128712	+	Intron	DEL	T	-	-	rs149651758		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119128712delT	uc003ecj.3	+							NM_020754	NP_065805			Cdc42 GTPase-activating protein						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183245512	183245513	+	Intron	DEL	GT	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183245512_183245513delGT	uc003flr.2	-						KLHL6_uc003fls.1_Intron|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713			kelch-like 6											haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)															---	---	---	---
LOC285501	285501	broad.mit.edu	37	4	178882198	178882198	+	Intron	DEL	A	-	-	rs74822716		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:178882198delA	uc010iru.2	+							NR_028342				Homo sapiens cDNA clone IMAGE:4828874.												0		all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	3278950	3278950	+	IGR	DEL	T	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3278950delT								C5orf38 (523438 upstream) : IRX1 (317218 downstream)																																			---	---	---	---
NOP16	51491	broad.mit.edu	37	5	175814066	175814069	+	Intron	DEL	TCTC	-	-	rs145796794		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175814066_175814069delTCTC	uc011dfl.1	-						NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron|NOP16_uc011dfm.1_Intron|HIGD2A_uc003meg.2_5'Flank	NM_016391	NP_057475			NOP16 nucleolar protein homolog							nucleolus				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30682700	30682701	+	Intron	INS	-	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30682700_30682701insA	uc003nrg.3	-						MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Intron	NM_014641	NP_055456			mediator of DNA-damage checkpoint 1						cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110767862	110767863	+	Intron	DEL	AC	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110767862_110767863delAC	uc003puf.2	-						SLC22A16_uc003pue.2_Intron	NM_033125	NP_149116			solute carrier family 22, member 16						acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	44969476	44969477	+	IGR	INS	-	TC	TC	rs144170109	by1000genomes	TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44969476_44969477insTC								PURB (44516 upstream) : MYO1G (32783 downstream)																																			---	---	---	---
LOC100132832	100132832	broad.mit.edu	37	7	76669648	76669649	+	Intron	INS	-	ATCTC	ATCTC			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76669648_76669649insATCTC	uc003ufy.2	+						PMS2L11_uc011kgn.1_Intron	NR_028058				Homo sapiens cDNA FLJ59034 complete cds, moderately similar to Protein deltex-2.												0																		---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732280	91732281	+	Intron	INS	-	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91732280_91732281insT	uc003ulg.2	+						AKAP9_uc003ulf.2_Intron|AKAP9_uc003uli.2_Intron|AKAP9_uc003ulj.2_Intron|AKAP9_uc003ull.2_Intron	NM_005751	NP_005742			A-kinase anchor protein 9 isoform 2						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---
Unknown	0	broad.mit.edu	37	7	117523462	117523464	+	IGR	DEL	AAA	-	-	rs112456636		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117523462_117523464delAAA								CTTNBP2 (9901 upstream) : NAA38 (300622 downstream)																																			---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2033648	2033649	+	Intron	DEL	CC	-	-	rs67333717		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2033648_2033649delCC	uc003wpx.3	+						MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961			myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23538533	23538533	+	3'UTR	DEL	A	-	-	rs113294309		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23538533delA	uc011kzx.1	-	2					NKX3-1_uc003xdv.1_RNA	NM_006167	NP_006158			NK3 homeobox 1						negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	44109097	44109098	+	IGR	INS	-	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:44109097_44109098insA								FAM75A6 (478367 upstream) : FAM27C (881138 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	69876385	69876386	+	IGR	INS	-	TCT	TCT			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69876385_69876386insTCT								LOC100133920 (211436 upstream) : FOXD4L5 (299323 downstream)																																			---	---	---	---
RPSAP9	653162	broad.mit.edu	37	9	79014570	79014570	+	3'UTR	DEL	A	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79014570delA	uc011lsj.1	+	1						NR_026890				SubName: Full=Laminin receptor-like protein LAMRL5;												0																		---	---	---	---
C12orf35	55196	broad.mit.edu	37	12	32140361	32140362	+	Intron	INS	-	T	T	rs111427763		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32140361_32140362insT	uc001rks.2	+						C12orf35_uc001rkt.2_Intron	NM_018169	NP_060639			hypothetical protein LOC55196											ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)															---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100774908	100774915	+	Intron	DEL	CATCTCAG	-	-	rs68046331		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100774908_100774915delCATCTCAG	uc010svi.1	+						SLC17A8_uc009ztx.2_Intron	NM_139319	NP_647480			solute carrier family 17 (sodium-dependent						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3																		---	---	---	---
C14orf73	91828	broad.mit.edu	37	14	103571521	103571522	+	Intron	DEL	GT	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103571521_103571522delGT	uc001ymk.2	+							NM_001077594	NP_001071062			hypothetical protein LOC91828												0		Melanoma(154;0.155)	Epithelial(46;0.221)													OREG0022947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78836662	78836662	+	Intron	DEL	T	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78836662delT	uc002bdu.3	+						PSMA4_uc010blf.2_Intron|PSMA4_uc002bdv.3_Intron|PSMA4_uc002bdw.3_Intron|PSMA4_uc002bdx.3_Intron	NM_002789	NP_002780			proteasome alpha 4 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89874491	89874497	+	Intron	DEL	CAAAACC	-	-	rs67590431		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89874491_89874497delCAAAACC	uc002fou.1	-						FANCA_uc010vpn.1_Intron|FANCA_uc002fov.1_Intron|FANCA_uc002fow.1_Intron|FANCA_uc002fox.1_Intron|FANCA_uc010ciu.1_Intron|FANCA_uc002foy.2_Intron	NM_000135	NP_000126			Fanconi anemia, complementation group A isoform						DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)				D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620689	27620690	+	Intron	DEL	AC	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27620689_27620690delAC	uc002hdy.3	-						NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823			nuclear fragile X mental retardation protein							nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)															---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76425005	76425006	+	Intron	INS	-	AA	AA	rs60351485		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76425005_76425006insAA	uc010dhp.1	-						DNAH17_uc002jvq.2_Intron|DNAH17_uc002jvs.2_Intron					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77811734	77811734	+	Intron	DEL	A	-	-	rs112421871		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77811734delA	uc002jxe.2	-							NM_003655	NP_003646			chromobox homolog 4						anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
DOK6	220164	broad.mit.edu	37	18	67068606	67068606	+	Intron	DEL	G	-	-	rs34997416		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67068606delG	uc002lkl.2	+							NM_152721	NP_689934			docking protein 6								insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)																---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	966459	966459	+	Intron	DEL	A	-	-	rs71335324		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:966459delA	uc002lql.2	+							NM_005224	NP_005215			AT rich interactive domain 3A (BRIGHT- like)							cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13915461	13915461	+	Intron	DEL	A	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13915461delA	uc002mxh.1	+						ZSWIM4_uc010xng.1_5'Flank	NM_023072	NP_075560			zinc finger, SWIM-type containing 4								zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)															---	---	---	---
APOC4	346	broad.mit.edu	37	19	45448708	45448708	+	3'UTR	DEL	A	-	-			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45448708delA	uc002pag.1	+	3					APOC2_uc002pah.2_5'Flank	NM_001646	NP_001637			apolipoprotein C-IV precursor						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)														---	---	---	---
Unknown	0	broad.mit.edu	37	21	11114442	11114442	+	IGR	DEL	A	-	-	rs5842456		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:11114442delA								BAGE (15505 upstream) : None (None downstream)																																			---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28315270	28315271	+	5'Flank	INS	-	C	C	rs28372772		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28315270_28315271insC	uc003adk.2	-						PITPNB_uc011akh.1_5'Flank|PITPNB_uc003adl.2_5'Flank|LOC284900_uc003adn.2_5'Flank|LOC284900_uc003ado.2_5'Flank|hsa-mir-3199-2|MI0014248_5'Flank	NM_012399	NP_036531			phosphatidylinositol transfer protein, beta						lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1																		---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21180045	21180045	+	Intron	SNP	G	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21180045G>T	uc001bec.2	-						EIF4G3_uc010odi.1_Intron|EIF4G3_uc010odj.1_Intron|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Intron|EIF4G3_uc001bef.2_Intron|EIF4G3_uc001bee.2_Intron	NM_003760	NP_003751			eukaryotic translation initiation factor 4						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27056214	27056214	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27056214C>T	uc001bmv.1	+	2	1583	c.1210C>T	c.(1210-1212)CAA>TAA	p.Q404*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q404*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q404*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q21*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	404					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45288225	45288225	+	Silent	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45288225G>A	uc010olf.1	-	22	3486	c.3474C>T	c.(3472-3474)ACC>ACT	p.T1158T	PTCH2_uc010olg.1_Silent_p.T856T	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1158	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200967659	200967659	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200967659C>T	uc001gvs.1	-	14	2247	c.1930G>A	c.(1930-1932)GAA>AAA	p.E644K	KIF21B_uc001gvr.1_Missense_Mutation_p.E644K|KIF21B_uc009wzl.1_Missense_Mutation_p.E644K|KIF21B_uc010ppn.1_Missense_Mutation_p.E644K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	644	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458186	248458186	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248458186C>T	uc010pzj.1	-	1	695	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)															---	---	---	---
C2orf43	60526	broad.mit.edu	37	2	20990056	20990056	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20990056G>A	uc002rec.2	-	3	290	c.257C>T	c.(256-258)GCG>GTG	p.A86V	C2orf43_uc002rea.1_Missense_Mutation_p.A86V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86V|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	86											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976323	131976323	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131976323G>C	uc002tsn.2	+	1	400	c.348G>C	c.(346-348)AAG>AAC	p.K116N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	116							ATP binding				0																		---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976365	131976365	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131976365G>T	uc002tsn.2	+	1	442	c.390G>T	c.(388-390)GAG>GAT	p.E130D	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	130							ATP binding				0																		---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158167802	158167802	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158167802C>T	uc002tzg.2	+	10	3020	c.2765C>T	c.(2764-2766)GCC>GTC	p.A922V	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	922	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4																		---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197987478	197987478	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197987478C>T	uc002uuc.2	-	7	756	c.589G>A	c.(589-591)GCA>ACA	p.A197T	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.A172T|ANKRD44_uc002uub.2_Missense_Mutation_p.A197T|ANKRD44_uc010zgw.1_Missense_Mutation_p.A125T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	197	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13407597	13407597	+	Intron	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13407597G>A	uc003bxv.1	-						NUP210_uc003bxx.2_Intron	NM_024923	NP_079199			nucleoporin 210 precursor						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
RHOA	387	broad.mit.edu	37	3	49405963	49405963	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49405963C>A	uc003cwu.2	-	3	451	c.175G>T	c.(175-177)GAC>TAC	p.D59Y	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	59	GTP (By similarity).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
RHOA	387	broad.mit.edu	37	3	49412898	49412898	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49412898T>G	uc003cwu.2	-	2	401	c.125A>C	c.(124-126)TAT>TCT	p.Y42S	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
BOC	91653	broad.mit.edu	37	3	112998786	112998786	+	Silent	SNP	C	T	T	rs147219655		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112998786C>T	uc003dzx.2	+	13	2757	c.2136C>T	c.(2134-2136)CCC>CCT	p.P712P	BOC_uc003dzy.2_Silent_p.P712P|BOC_uc003dzz.2_Silent_p.P713P|BOC_uc003eab.2_Silent_p.P413P|BOC_uc003eac.2_Silent_p.P27P	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	712	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)															---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180397169	180397169	+	5'UTR	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180397169G>A	uc010hxe.2	-	1					CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091			coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
SENP2	59343	broad.mit.edu	37	3	185335332	185335332	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185335332C>T	uc003fpn.2	+	12	1346	c.1175C>T	c.(1174-1176)GCT>GTT	p.A392V	SENP2_uc011brv.1_Missense_Mutation_p.A382V|SENP2_uc011brw.1_Missense_Mutation_p.A205V	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	392					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)															---	---	---	---
PDCL2	132954	broad.mit.edu	37	4	56448359	56448359	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56448359C>T	uc003hbb.2	-	2	155	c.52G>A	c.(52-54)GGC>AGC	p.G18S		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	18											0	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)															---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111398070	111398070	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111398070A>C	uc003iab.3	+	1	842	c.500A>C	c.(499-501)GAG>GCG	p.E167A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	167	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)													---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13885264	13885264	+	Silent	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13885264C>T	uc003jfd.2	-	19	2859	c.2817G>A	c.(2815-2817)ACG>ACA	p.T939T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	939	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481829	140481829	+	Silent	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140481829C>T	uc003lio.2	+	1	1596	c.1596C>T	c.(1594-1596)GGC>GGT	p.G532G	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	532	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554097	140554097	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554097G>A	uc003lit.2	+	1	1855	c.1681G>A	c.(1681-1683)GTG>ATG	p.V561M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	561	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
GMDS	2762	broad.mit.edu	37	6	1961067	1961067	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:1961067C>T	uc003mtq.2	-	5	669	c.479G>A	c.(478-480)GGG>GAG	p.G160E		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	160					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)														---	---	---	---
HIST1H1A	3024	broad.mit.edu	37	6	26017492	26017492	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26017492T>C	uc003nfo.2	-	1	549	c.469A>G	c.(469-471)AAA>GAA	p.K157E		NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	157					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2																		---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129823901	129823901	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129823901C>A	uc003qbn.2	+	58	8447	c.8342C>A	c.(8341-8343)ACC>AAC	p.T2781N	LAMA2_uc003qbo.2_Missense_Mutation_p.T2777N|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2781	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151670244	151670244	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151670244G>A	uc011eep.1	+	4	958	c.718G>A	c.(718-720)GAA>AAA	p.E240K	AKAP12_uc003qoe.2_Missense_Mutation_p.E240K|AKAP12_uc003qof.2_Missense_Mutation_p.E142K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E135K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	240			E -> K (in a colorectal cancer sample; somatic mutation).		G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.E240K(1)		large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)														---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55211010	55211010	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55211010G>A	uc003tqk.2	+	3	499	c.253G>A	c.(253-255)GTG>ATG	p.V85M	EGFR_uc003tqh.2_Missense_Mutation_p.V85M|EGFR_uc003tqi.2_Missense_Mutation_p.V85M|EGFR_uc003tqj.2_Missense_Mutation_p.V85M|EGFR_uc010kzg.1_Missense_Mutation_p.V85M|EGFR_uc011kco.1_Missense_Mutation_p.V32M	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	85	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187764	57187764	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:57187764G>A	uc010kzo.2	-	5	1629	c.1358C>T	c.(1357-1359)ACT>ATT	p.T453I		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	453	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)															---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76126705	76126705	+	Missense_Mutation	SNP	G	A	A	rs137896500	byFrequency	TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76126705G>A	uc003uff.3	+	7	1617	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	DTX2_uc011kgk.1_Missense_Mutation_p.R263H|DTX2_uc003ufg.3_Missense_Mutation_p.R354H|DTX2_uc003ufh.3_Missense_Mutation_p.R354H|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.R17H|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	354					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98550831	98550831	+	Silent	SNP	G	C	C			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98550831G>C	uc003upp.2	+	39	5693	c.5484G>C	c.(5482-5484)CTG>CTC	p.L1828L	TRRAP_uc011kis.1_Silent_p.L1810L|TRRAP_uc003upr.2_Silent_p.L1527L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1828					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131878892	131878892	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131878892A>G	uc003vra.3	-	14	3014	c.2785T>C	c.(2785-2787)TTC>CTC	p.F929L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	929	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142569461	142569461	+	Silent	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142569461C>T	uc003wbx.1	-	15	2393	c.2177G>A	c.(2176-2178)TGA>TAA	p.*726*	TRPV6_uc003wbw.1_Silent_p.*512*|TRPV6_uc010lou.1_Silent_p.*597*	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	726					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)																	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26627887	26627887	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26627887C>T	uc003xfh.1	-	2	1616	c.1180G>A	c.(1180-1182)GTT>ATT	p.V394I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V394I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V394I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V394I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	394	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)													---	---	---	---
RP1	6101	broad.mit.edu	37	8	55539912	55539912	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55539912C>T	uc003xsd.1	+	4	3618	c.3470C>T	c.(3469-3471)TCT>TTT	p.S1157F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1157					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93004103	93004103	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:93004103C>T	uc003yfd.2	-	6	839	c.755G>A	c.(754-756)GGC>GAC	p.G252D	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G225D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G215D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G225D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G263D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G215D	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	252					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)															---	---	---	---
ACER2	340485	broad.mit.edu	37	9	19409094	19409094	+	Silent	SNP	G	A	A	rs144513346	byFrequency	TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19409094G>A	uc003zny.1	+	1	170	c.12G>A	c.(10-12)CCG>CCA	p.P4P	ACER2_uc003znx.1_Intron|ACER2_uc003znz.1_5'UTR	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	4	Essential for localization in the Golgi apparatus and for activity.|Lumenal (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2																		---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630240	32630240	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32630240C>T	uc003zrg.1	-	1	5428	c.5338G>A	c.(5338-5340)GAA>AAA	p.E1780K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1780					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---
PGM5	5239	broad.mit.edu	37	9	71002420	71002420	+	Missense_Mutation	SNP	C	T	T	rs138311393		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71002420C>T	uc004agr.2	+	4	842	c.613C>T	c.(613-615)CGG>TGG	p.R205W		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	205					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
AUH	549	broad.mit.edu	37	9	94058367	94058367	+	Intron	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94058367G>A	uc004arf.3	-						AUH_uc004arg.3_Intron|AUH_uc011ltu.1_Intron	NM_001698	NP_001689			AU RNA binding protein/enoyl-Coenzyme A						branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0																		---	---	---	---
FAM163B	642968	broad.mit.edu	37	9	136444287	136444287	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136444287G>C	uc011mdm.1	-	2	358	c.358C>G	c.(358-360)CGC>GGC	p.R120G		NM_001080515	NP_001073984	P0C2L3	F163B_HUMAN	hypothetical LOC642968	120						integral to membrane					0																		---	---	---	---
SIRT1	23411	broad.mit.edu	37	10	69676111	69676111	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69676111A>G	uc001jnd.2	+	9	2058	c.2005A>G	c.(2005-2007)AGT>GGT	p.S669G	SIRT1_uc010qis.1_Missense_Mutation_p.S374G|SIRT1_uc009xpp.2_Missense_Mutation_p.S477G|SIRT1_uc001jne.2_Missense_Mutation_p.S366G	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	669					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0																		---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111052	7111052	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7111052C>T	uc001mfc.2	+	1	888	c.701C>T	c.(700-702)TCG>TTG	p.S234L		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	234	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808127	14808127	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14808127G>A	uc001mln.2	+	3	1527	c.1174G>A	c.(1174-1176)GGT>AGT	p.G392S	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	392					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35496285	35496285	+	Silent	SNP	G	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35496285G>T	uc001mwg.2	-	4	430	c.387C>A	c.(385-387)GGC>GGA	p.G129G	PAMR1_uc001mwf.2_Silent_p.G129G|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.G89G	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	129	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
FLRT1	23769	broad.mit.edu	37	11	63885134	63885134	+	Silent	SNP	G	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63885134G>T	uc001nyi.1	+	2	1736	c.1395G>T	c.(1393-1395)CGG>CGT	p.R465R	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	437	Fibronectin type-III.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0																		---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332291	70332291	+	Silent	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70332291G>A	uc001oqc.2	-	21	4185	c.4107C>T	c.(4105-4107)ACC>ACT	p.T1369T	SHANK2_uc010rqn.1_Silent_p.T781T|SHANK2_uc001opz.2_Silent_p.T774T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	990					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92430579	92430579	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92430579G>C	uc001pdj.3	+	3	3654	c.3637G>C	c.(3637-3639)GAT>CAT	p.D1213H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1213	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110453059	110453059	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110453059C>T	uc001pkz.1	-	15	1991	c.1706G>A	c.(1705-1707)AGA>AAA	p.R569K	ARHGAP20_uc001pky.1_Missense_Mutation_p.R546K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R533K|ARHGAP20_uc001pla.1_Missense_Mutation_p.R533K|ARHGAP20_uc001plb.2_Missense_Mutation_p.R112K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	569					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117389392	117389392	+	Silent	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117389392G>A	uc001prh.1	-	7	1481	c.1479C>T	c.(1477-1479)GGC>GGT	p.G493G	DSCAML1_uc001pri.1_Silent_p.G297G	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	433	Extracellular (Potential).|Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
SNX19	399979	broad.mit.edu	37	11	130784835	130784835	+	Missense_Mutation	SNP	C	T	T	rs143532789		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130784835C>T	uc001qgk.3	-	1	1548	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E334K|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	334					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)														---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49724178	49724178	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49724178C>T	uc001rtx.3	+	13	1717	c.1550C>T	c.(1549-1551)CCG>CTG	p.P517L	TROAP_uc009zlh.2_Missense_Mutation_p.P517L|TROAP_uc001rty.2_Missense_Mutation_p.P225L	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	517	Cys-rich.|4 X 33 AA approximate tandem repeats.|1.				cell adhesion	cytoplasm				ovary(1)	1																		---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76449896	76449896	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76449896C>A	uc001sxw.2	-	7	887	c.475G>T	c.(475-477)GAA>TAA	p.E159*	NAP1L1_uc001sxv.2_Nonsense_Mutation_p.E117*|NAP1L1_uc001sxz.2_Nonsense_Mutation_p.E90*|NAP1L1_uc001sxx.2_Nonsense_Mutation_p.E159*|NAP1L1_uc001sxy.2_Nonsense_Mutation_p.E96*|NAP1L1_uc010sty.1_Nonsense_Mutation_p.E116*|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Nonsense_Mutation_p.E159*|NAP1L1_uc001syb.2_Nonsense_Mutation_p.E159*|NAP1L1_uc001sya.2_Nonsense_Mutation_p.E117*|NAP1L1_uc001syc.2_Nonsense_Mutation_p.E170*	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	159					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)																---	---	---	---
HAL	3034	broad.mit.edu	37	12	96377755	96377755	+	Silent	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:96377755C>T	uc001tem.1	-	15	1518	c.1221G>A	c.(1219-1221)GTG>GTA	p.V407V	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.V199V|HAL_uc010sux.1_Silent_p.V407V	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	407					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)													---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108641966	108641966	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108641966A>G	uc001tms.2	+	9	2288	c.1544A>G	c.(1543-1545)GAT>GGT	p.D515G	WSCD2_uc001tmt.2_Missense_Mutation_p.D515G|WSCD2_uc001tmu.2_Missense_Mutation_p.D283G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	515						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---
FICD	11153	broad.mit.edu	37	12	108912765	108912765	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108912765T>G	uc001tmx.1	+	3	1036	c.890T>G	c.(889-891)GTG>GGG	p.V297G		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	297	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0																		---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113379558	113379558	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113379558C>T	uc001tug.2	+	2	448	c.361C>T	c.(361-363)CCT>TCT	p.P121S	OAS3_uc001tue.2_Missense_Mutation_p.P121S|OAS3_uc001tuf.2_Missense_Mutation_p.P121S	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	121	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1																		---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113553730	113553730	+	Intron	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113553730C>T	uc001tum.1	-						RASAL1_uc010syp.1_Intron|RASAL1_uc001tul.2_Intron|RASAL1_uc001tun.1_Intron|RASAL1_uc010syq.1_Intron|RASAL1_uc001tuo.3_Intron|RASAL1_uc010syr.1_Intron	NM_004658	NP_004649			RAS protein activator like 1						intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4																		---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29001982C>T	uc001usb.3	-	9	1468	c.1183G>A	c.(1183-1185)GTA>ATA	p.V395I	FLT1_uc010aar.1_Missense_Mutation_p.V395I|FLT1_uc001usc.3_Missense_Mutation_p.V395I|FLT1_uc010tdp.1_Missense_Mutation_p.V395I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	395	Ig-like C2-type 4.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38211356	38211356	+	Missense_Mutation	SNP	C	T	T	rs142683062	byFrequency	TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38211356C>T	uc001uws.2	-	11	2853	c.2618G>A	c.(2617-2619)CGT>CAT	p.R873H	TRPC4_uc010abv.2_Missense_Mutation_p.R453H|TRPC4_uc001uwt.2_Missense_Mutation_p.R789H|TRPC4_uc010tey.1_Missense_Mutation_p.R732H|TRPC4_uc010abw.2_Missense_Mutation_p.R700H|TRPC4_uc010abx.2_Missense_Mutation_p.R878H|TRPC4_uc010aby.2_Missense_Mutation_p.R724H	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	873	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)														---	---	---	---
DAOA	267012	broad.mit.edu	37	13	106119489	106119489	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:106119489T>G	uc001vqb.2	+	2	406	c.132T>G	c.(130-132)ATT>ATG	p.I44M	DAOA_uc010tjf.1_Translation_Start_Site|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Translation_Start_Site|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	44						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	33684530	33684530	+	Silent	SNP	C	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33684530C>A	uc001wru.2	+	3	347	c.283C>A	c.(283-285)CGA>AGA	p.R95R	NPAS3_uc001wrs.2_Silent_p.R65R|NPAS3_uc001wrt.2_Silent_p.R65R|NPAS3_uc001wrv.2_Silent_p.R65R|NPAS3_uc001wrw.2_5'UTR	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	95	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75002714	75002714	+	Intron	SNP	G	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75002714G>T	uc001xqa.2	-							NM_000428	NP_000419			latent transforming growth factor beta binding						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
EVL	51466	broad.mit.edu	37	14	100595908	100595908	+	Silent	SNP	C	T	T	rs145112596	byFrequency	TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100595908C>T	uc001ygt.2	+	7	959	c.720C>T	c.(718-720)GAC>GAT	p.D240D	EVL_uc001ygv.2_Silent_p.D246D|EVL_uc001ygu.2_Silent_p.D242D|EVL_uc010avu.2_Silent_p.D99D	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	240	EVH2.|EVH2 block A.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)																---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43577123	43577123	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43577123C>T	uc001zrf.1	-	7	898	c.893G>A	c.(892-894)CGT>CAT	p.R298H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	298					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)													---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74912538	74912538	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74912538G>A	uc010uln.1	+	3	1246	c.785G>A	c.(784-786)CGC>CAC	p.R262H	CLK3_uc002ayg.3_Missense_Mutation_p.R114H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R262H|CLK3_uc002ayj.3_Missense_Mutation_p.R114H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	262	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2																		---	---	---	---
LYRM1	57149	broad.mit.edu	37	16	20926917	20926917	+	Missense_Mutation	SNP	C	T	T	rs149175521	byFrequency;by1000genomes	TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20926917C>T	uc010bwj.2	+	2	341	c.40C>T	c.(40-42)CGC>TGC	p.R14C	LYRM1_uc010bwi.1_RNA|LYRM1_uc010bwk.2_Intron|LYRM1_uc002dia.3_Missense_Mutation_p.R14C|LYRM1_uc010bwl.2_Missense_Mutation_p.R14C|LYRM1_uc010bwm.2_Intron|LYRM1_uc002dib.2_Missense_Mutation_p.R14C	NM_020424	NP_065157	O43325	LYRM1_HUMAN	LYR motif containing 1	14						nucleus					0																		---	---	---	---
DDX28	55794	broad.mit.edu	37	16	68056517	68056517	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68056517C>G	uc002evh.1	-	1	1443	c.589G>C	c.(589-591)GAC>CAC	p.D197H	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	197	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)														---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77387771	77387771	+	Silent	SNP	C	A	A	rs148669189		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77387771C>A	uc002ffc.3	-	10	1892	c.1473G>T	c.(1471-1473)GCG>GCT	p.A491A	ADAMTS18_uc010chc.1_Silent_p.A79A|ADAMTS18_uc002ffe.1_Silent_p.A187A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	491	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578526C>T	uc002gim.2	-	5	598	c.404G>A	c.(403-405)TGC>TAC	p.C135Y	TP53_uc002gig.1_Missense_Mutation_p.C135Y|TP53_uc002gih.2_Missense_Mutation_p.C135Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3Y|TP53_uc010cng.1_Missense_Mutation_p.C3Y|TP53_uc002gii.1_Missense_Mutation_p.C3Y|TP53_uc010cnh.1_Missense_Mutation_p.C135Y|TP53_uc010cni.1_Missense_Mutation_p.C135Y|TP53_uc002gij.2_Missense_Mutation_p.C135Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42Y|TP53_uc002gio.2_Missense_Mutation_p.C3Y|TP53_uc010vug.1_Missense_Mutation_p.C96Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	135	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10408543C>T	uc002gmo.2	-	21	2466	c.2372G>A	c.(2371-2373)CGA>CAA	p.R791Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---
ZSWIM7	125150	broad.mit.edu	37	17	15890590	15890590	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15890590C>T	uc002gpe.2	-	3	289	c.191G>A	c.(190-192)CGT>CAT	p.R64H	ZSWIM7_uc002gpf.2_Missense_Mutation_p.R64H|ZSWIM7_uc002gpg.2_RNA	NM_001042698	NP_001036163	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	64					DNA recombination|DNA repair	nucleus	zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)														---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18882956	18882956	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18882956C>T	uc002guw.2	-	4	888	c.721G>A	c.(721-723)GAG>AAG	p.E241K	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	241										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
DLX3	1747	broad.mit.edu	37	17	48069062	48069062	+	Missense_Mutation	SNP	C	T	T	rs138972403		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48069062C>T	uc002ipy.2	-	3	909	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
COX11	1353	broad.mit.edu	37	17	53042077	53042077	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53042077G>A	uc010wng.1	-	2	560	c.503C>T	c.(502-504)CCT>CTT	p.P168L	COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.P168L	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	COX11 homolog, cytochrome c oxidase assembly	168	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			ovary(1)	1																		---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73627718	73627718	+	Silent	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73627718G>A	uc010dgl.2	-	9	1416	c.1260C>T	c.(1258-1260)TTC>TTT	p.F420F	RECQL5_uc010dgk.2_Silent_p.F393F|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	420					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)										Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78013951	78013951	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78013951C>T	uc010dht.2	+	3	461	c.434C>T	c.(433-435)GCC>GTC	p.A145V	CCDC40_uc010wub.1_Missense_Mutation_p.A145V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	145					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61468106	61468106	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61468106G>T	uc002ljl.2	+	7	700	c.604G>T	c.(604-606)GGG>TGG	p.G202W	SERPINB7_uc002ljm.2_Missense_Mutation_p.G202W|SERPINB7_uc010xet.1_Missense_Mutation_p.G185W|SERPINB7_uc010dqg.2_Missense_Mutation_p.G202W	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	202					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)																---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76752182	76752182	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76752182C>A	uc002lmt.2	+	2	191	c.191C>A	c.(190-192)GCG>GAG	p.A64E	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)														---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23844925	23844925	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23844925C>T	uc002nri.2	-	3	399	c.217G>A	c.(217-219)GAA>AAA	p.E73K		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	73	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)																---	---	---	---
APLP1	333	broad.mit.edu	37	19	36363501	36363501	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36363501C>T	uc002oce.2	+	7	1105	c.967C>T	c.(967-969)CGC>TGC	p.R323C	APLP1_uc010xsz.1_Missense_Mutation_p.R284C|APLP1_uc002ocf.2_Missense_Mutation_p.R323C|APLP1_uc002ocg.2_Missense_Mutation_p.R226C|APLP1_uc010xta.1_Missense_Mutation_p.R317C	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	323	Heparin-binding (By similarity).|Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
ProSAPiP1	9762	broad.mit.edu	37	20	3146981	3146981	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3146981G>A	uc002wia.1	-	2	1883	c.485C>T	c.(484-486)TCG>TTG	p.S162L	ProSAPiP1_uc002wib.1_Missense_Mutation_p.S162L	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	162						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1																		---	---	---	---
JAG1	182	broad.mit.edu	37	20	10626625	10626625	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10626625C>T	uc002wnw.2	-	15	2509	c.1993G>A	c.(1993-1995)GAA>AAA	p.E665K	JAG1_uc010gcd.1_Missense_Mutation_p.E223K	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	665	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9														Alagille_Syndrome				---	---	---	---
C20orf26	26074	broad.mit.edu	37	20	20144800	20144800	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20144800G>A	uc002wru.2	+	11	1209	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	C20orf26_uc010gcw.1_Missense_Mutation_p.R332H|C20orf26_uc010zse.1_Missense_Mutation_p.R378H|C20orf26_uc010zsf.1_Missense_Mutation_p.R378H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	378										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---
C20orf185	359710	broad.mit.edu	37	20	31644485	31644485	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31644485G>A	uc002wym.1	+	2	262	c.262G>A	c.(262-264)GTT>ATT	p.V88I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	88	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4																		---	---	---	---
CYP24A1	1591	broad.mit.edu	37	20	52773733	52773733	+	Silent	SNP	C	T	T	rs150155645		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52773733C>T	uc002xwv.2	-	11	1928	c.1530G>A	c.(1528-1530)GCG>GCA	p.A510A	CYP24A1_uc002xwu.1_Silent_p.A368A|CYP24A1_uc002xww.2_Silent_p.A444A	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	510					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)													---	---	---	---
OLIG2	10215	broad.mit.edu	37	21	34399178	34399178	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34399178C>T	uc002yqx.1	+	2	166	c.8C>T	c.(7-9)TCG>TTG	p.S3L		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	3						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2								T	TRA@	T-ALL								---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47918652	47918652	+	Silent	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47918652G>A	uc002zjo.2	+	5	744	c.561G>A	c.(559-561)CCG>CCA	p.P187P	DIP2A_uc011afy.1_Silent_p.P123P|DIP2A_uc011afz.1_Silent_p.P187P|DIP2A_uc002zjl.2_Silent_p.P187P|DIP2A_uc002zjm.2_Silent_p.P187P|DIP2A_uc010gql.2_Silent_p.P187P|DIP2A_uc002zjn.2_Silent_p.P187P	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	187					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---
SNAP29	9342	broad.mit.edu	37	22	21224688	21224688	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21224688G>A	uc011ahw.1	+	2	408	c.301G>A	c.(301-303)GAT>AAT	p.D101N		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	101	Potential.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)															---	---	---	---
CBX6	23466	broad.mit.edu	37	22	39262882	39262882	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39262882C>T	uc003awl.2	-	5	634	c.571G>A	c.(571-573)GGG>AGG	p.G191R		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	191					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)																	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22263519	22263519	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22263519C>T	uc004dah.2	+	21	2343	c.2140C>T	c.(2140-2142)CAG>TAG	p.Q714*	PHEX_uc011mjr.1_Intron|PHEX_uc011mjs.1_Nonsense_Mutation_p.Q617*	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	714					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31792190	31792190	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31792190G>A	uc004dda.1	-	51	7673	c.7429C>T	c.(7429-7431)CGG>TGG	p.R2477W	DMD_uc004dcr.1_Missense_Mutation_p.R17W|DMD_uc004dcs.1_Missense_Mutation_p.R17W|DMD_uc004dct.1_Missense_Mutation_p.R17W|DMD_uc004dcu.1_Missense_Mutation_p.R17W|DMD_uc004dcv.1_Missense_Mutation_p.R17W|DMD_uc004dcw.2_Missense_Mutation_p.R1133W|DMD_uc004dcx.2_Missense_Mutation_p.R1136W|DMD_uc004dcz.2_Missense_Mutation_p.R2354W|DMD_uc004dcy.1_Missense_Mutation_p.R2473W|DMD_uc004ddb.1_Missense_Mutation_p.R2469W|DMD_uc004ddd.1_Missense_Mutation_p.R17W	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2477	Spectrin 17.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75004703	75004703	+	Missense_Mutation	SNP	C	A	A	rs142989384		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75004703C>A	uc004ecj.1	-	1	369	c.184G>T	c.(184-186)GTT>TTT	p.V62F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	62										ovary(1)|skin(1)	2																		---	---	---	---
F8	2157	broad.mit.edu	37	X	154197692	154197692	+	Missense_Mutation	SNP	G	A	A	rs137852404		TCGA-D7-6521-01	TCGA-D7-6521-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154197692G>A	uc004fmt.2	-	7	1094	c.923C>T	c.(922-924)TCG>TTG	p.S308L		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	308	Plastocyanin-like 2.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
