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	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
CUZD1	50624	broad.mit.edu	37	10	124605305	124605306	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124605305_124605306CC>TT	uc001lgq.2	-	1	386_387	c.54_55GG>AA	c.(52-57)TTGGCG>TTAACG	p.A19T	CUZD1_uc009yaf.2_5'UTR|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.A19T|CUZD1_uc010qtz.1_Missense_Mutation_p.A19T	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	19					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---	capture		Missense_Mutation	DNP	124605305	124605306	4226	10	CC	TT	TT	26	26	CUZD1	TT	2	2
CD19	930	broad.mit.edu	37	16	28944428	28944429	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28944428_28944429CA>AC	uc002drs.2	+	3	614_615	c.552_553CA>AC	c.(550-555)CTCAGC>CTACGC	p.S185R	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.S185R	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	185	Extracellular (Potential).|Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	DNP	28944428	28944429	3100	16	CA	AC	AC	29	29	CD19	AC	2	2
XIRP2	129446	broad.mit.edu	37	2	168099528	168099529	+	Silent	DNP	CC	AA	AA			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168099528_168099529CC>AA	uc002udx.2	+	8	1644_1645	c.1626_1627CC>AA	c.(1624-1629)GCCCGG>GCAAGG	p.542_543AR>AR	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.367_368AR>AR|XIRP2_uc010fpq.2_Silent_p.320_321AR>AR|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	367_368	Xin 1.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Silent	DNP	168099528	168099529	18011	2	CC	AA	AA	22	22	XIRP2	AA	2	2
ZDBF2	57683	broad.mit.edu	37	2	207175031	207175032	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207175031_207175032CC>AA	uc002vbp.2	+	5	6029_6030	c.5779_5780CC>AA	c.(5779-5781)CCT>AAT	p.P1927N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1927							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	DNP	207175031	207175032	18187	2	CC	AA	AA	30	30	ZDBF2	AA	2	2
HEY1	23462	broad.mit.edu	37	8	80677843	80677844	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:80677843_80677844CC>AA	uc003ybm.2	-	5	694_695	c.494_495GG>TT	c.(493-495)CGG>CTT	p.R165L	HEY1_uc010lzq.2_Missense_Mutation_p.R46L|HEY1_uc003ybl.2_Missense_Mutation_p.R169L	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	165					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)													OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	DNP	80677843	80677844	7361	8	CC	AA	AA	22	22	HEY1	AA	2	2
PLA2G4E	123745	broad.mit.edu	37	15	42302338	42302338	+	Frame_Shift_Del	DEL	A	-	-	rs28736629		TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42302338delA	uc001zow.1	-	1	108	c.108delT	c.(106-108)GGTfs	p.G36fs		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	Error:Variant_position_missing_in_Q3MJ16_after_alignment					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	42302338	42302338	12431	15	A	-	-	6	6	PLA2G4E	-	5	5
C20orf26	26074	broad.mit.edu	37	20	20257983	20257983	+	Frame_Shift_Del	DEL	G	-	-			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20257983delG	uc002wru.2	+	22	2753	c.2677delG	c.(2677-2679)GCCfs	p.A893fs	C20orf26_uc010zse.1_Frame_Shift_Del_p.A873fs|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	893										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	20257983	20257983	2186	20	G	-	-	38	38	C20orf26	-	5	5
SNTA1	6640	broad.mit.edu	37	20	32005618	32005618	+	Frame_Shift_Del	DEL	C	-	-			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32005618delC	uc002wzd.1	-	3	880	c.608delG	c.(607-609)GGCfs	p.G203fs	SNTA1_uc010zuf.1_Frame_Shift_Del_p.G203fs	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	203	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	32005618	32005618	15371	20	C	-	-	26	26	SNTA1	-	5	5
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	-	-			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144511954_144511956delTGG	uc003yyc.1	-	1	621_623	c.621_623delCCA	c.(619-624)CACCAT>CAT	p.207_208HH>H		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	207_208	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)												HNSCC(29;0.082)			---	---	---	---	capture_indel		In_Frame_Del	DEL	144511954	144511956	9534	8	TGG	-	-	51	51	MAFA	-	5	5
TMEM51	55092	broad.mit.edu	37	1	15545933	15545933	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15545933G>A	uc001avw.3	+	4	975	c.456G>A	c.(454-456)CCG>CCA	p.P152P	TMEM51_uc010obk.1_Silent_p.P152P|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Silent_p.P152P|TMEM51_uc001avx.2_Silent_p.P152P	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	152						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)														---	---	---	---	capture		Silent	SNP	15545933	15545933	16716	1	G	A	A	37	37	TMEM51	A	1	1
NBPF3	84224	broad.mit.edu	37	1	21797204	21797204	+	Missense_Mutation	SNP	G	T	T	rs72872292	byFrequency;by1000genomes	TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21797204G>T	uc001ber.2	+	4	773	c.423G>T	c.(421-423)GAG>GAT	p.E141D	NBPF3_uc001bes.2_Missense_Mutation_p.E85D|NBPF3_uc009vqb.2_Missense_Mutation_p.E141D|NBPF3_uc010odm.1_Missense_Mutation_p.E71D	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	141	Potential.					cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	21797204	21797204	10594	1	G	T	T	34	34	NBPF3	T	2	2
PODN	127435	broad.mit.edu	37	1	53535731	53535731	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53535731C>T	uc001cuv.2	+	2	355	c.348C>T	c.(346-348)TGC>TGT	p.C116C	PODN_uc001cuw.2_Silent_p.C97C|PODN_uc010onr.1_Silent_p.C97C|PODN_uc010ons.1_Silent_p.C116C	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	68	LRRNT.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Silent	SNP	53535731	53535731	12606	1	C	T	T	26	26	PODN	T	2	2
INADL	10207	broad.mit.edu	37	1	62330011	62330011	+	Missense_Mutation	SNP	C	A	A	rs139134153	byFrequency	TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62330011C>A	uc001dab.2	+	20	2655	c.2541C>A	c.(2539-2541)AGC>AGA	p.S847R	INADL_uc009waf.1_Missense_Mutation_p.S847R|INADL_uc001daa.2_Missense_Mutation_p.S847R|INADL_uc001dad.3_Missense_Mutation_p.S544R|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	847					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	62330011	62330011	8032	1	C	A	A	25	25	INADL	A	2	2
SFRS11	9295	broad.mit.edu	37	1	70700378	70700378	+	Splice_Site	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70700378G>T	uc001des.2	+	5	572	c.448_splice	c.e5-1	p.I150_splice	SFRS11_uc001det.2_Splice_Site_p.I150_splice|SFRS11_uc001deu.2_Splice_Site_p.I150_splice|SFRS11_uc001dev.2_Splice_Site|SFRS11_uc001dew.2_Splice_Site_p.I90_splice	NM_004768	NP_004759			splicing factor, arginine/serine-rich 11						mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0																		---	---	---	---	capture		Splice_Site	SNP	70700378	70700378	14655	1	G	T	T	33	33	SFRS11	T	5	2
ABCA4	24	broad.mit.edu	37	1	94480239	94480239	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94480239C>T	uc001dqh.2	-	38	5424	c.5320G>A	c.(5320-5322)GTC>ATC	p.V1774I	ABCA4_uc009wdp.1_Missense_Mutation_p.V42I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1774	Helical; (Potential).				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	94480239	94480239	35	1	C	T	T	18	18	ABCA4	T	2	2
ISG20L2	81875	broad.mit.edu	37	1	156694041	156694041	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156694041T>A	uc001fps.1	-	2	1108	c.847A>T	c.(847-849)ACC>TCC	p.T283S	ISG20L2_uc001fpt.1_Missense_Mutation_p.T283S	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	283	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156694041	156694041	8159	1	T	A	A	59	59	ISG20L2	A	4	4
FCRL5	83416	broad.mit.edu	37	1	157494301	157494301	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157494301C>A	uc001fqu.2	-	10	2165	c.2007G>T	c.(2005-2007)CAG>CAT	p.Q669H	FCRL5_uc009wsm.2_Missense_Mutation_p.Q669H|FCRL5_uc010phv.1_Missense_Mutation_p.Q669H|FCRL5_uc010phw.1_Missense_Mutation_p.Q584H	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	669	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---	capture		Missense_Mutation	SNP	157494301	157494301	6035	1	C	A	A	24	24	FCRL5	A	2	2
OR6N1	128372	broad.mit.edu	37	1	158735878	158735878	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158735878C>A	uc010piq.1	-	1	595	c.595G>T	c.(595-597)GAT>TAT	p.D199Y		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158735878	158735878	11616	1	C	A	A	32	32	OR6N1	A	2	2
F5	2153	broad.mit.edu	37	1	169510281	169510281	+	Silent	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169510281G>T	uc001ggg.1	-	13	4192	c.4047C>A	c.(4045-4047)TCC>TCA	p.S1349S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1349	2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---	capture		Silent	SNP	169510281	169510281	5542	1	G	T	T	43	43	F5	T	2	2
FASLG	356	broad.mit.edu	37	1	172628635	172628635	+	Silent	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172628635C>A	uc001gis.2	+	1	451	c.294C>A	c.(292-294)GGC>GGA	p.G98G	FASLG_uc001git.2_Silent_p.G98G	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	98	Helical; Signal-anchor for type II membrane protein; (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3																		---	---	---	---	capture		Silent	SNP	172628635	172628635	5918	1	C	A	A	26	26	FASLG	A	2	2
PAPPA2	60676	broad.mit.edu	37	1	176709279	176709279	+	Silent	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176709279G>T	uc001gkz.2	+	14	5262	c.4098G>T	c.(4096-4098)TCG>TCT	p.S1366S	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1366					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---	capture		Silent	SNP	176709279	176709279	11850	1	G	T	T	39	39	PAPPA2	T	1	1
PAPPA2	60676	broad.mit.edu	37	1	176738770	176738770	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176738770G>T	uc001gkz.2	+	16	5515	c.4351G>T	c.(4351-4353)GGG>TGG	p.G1451W	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1451	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	176738770	176738770	11850	1	G	T	T	47	47	PAPPA2	T	2	2
ASTN1	460	broad.mit.edu	37	1	176903472	176903472	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176903472G>A	uc001glc.2	-	16	2699	c.2487C>T	c.(2485-2487)CTC>CTT	p.L829L	ASTN1_uc001glb.1_Silent_p.L829L|ASTN1_uc001gld.1_Silent_p.L829L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	837					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture		Silent	SNP	176903472	176903472	1083	1	G	A	A	45	45	ASTN1	A	2	2
FAM20B	9917	broad.mit.edu	37	1	179019460	179019460	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179019460G>A	uc001gmc.2	+	3	717	c.424G>A	c.(424-426)GAT>AAT	p.D142N		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	142	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	179019460	179019460	5753	1	G	A	A	45	45	FAM20B	A	2	2
C1orf125	126859	broad.mit.edu	37	1	179398712	179398712	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179398712G>C	uc001gmo.2	+	13	1417	c.1290G>C	c.(1288-1290)TGG>TGC	p.W430C	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.W218C|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.W430C	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	430											0																		---	---	---	---	capture		Missense_Mutation	SNP	179398712	179398712	2060	1	G	C	C	41	41	C1orf125	C	3	3
TP53BP2	7159	broad.mit.edu	37	1	224009057	224009057	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224009057C>A	uc010pvb.1	-	2	332	c.40G>T	c.(40-42)GTG>TTG	p.V14L	TP53BP2_uc001hod.2_5'UTR	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	8					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)														---	---	---	---	capture		Missense_Mutation	SNP	224009057	224009057	16926	1	C	A	A	19	19	TP53BP2	A	1	1
ITPKB	3707	broad.mit.edu	37	1	226822451	226822451	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226822451C>G	uc010pvo.1	-	8	3102	c.2762G>C	c.(2761-2763)CGG>CCG	p.R921P		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	921							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---	capture		Missense_Mutation	SNP	226822451	226822451	8222	1	C	G	G	23	23	ITPKB	G	3	3
GUK1	2987	broad.mit.edu	37	1	228335335	228335335	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228335335G>C	uc001hsh.2	+	7	713	c.410G>C	c.(409-411)CGC>CCC	p.R137P	GUK1_uc001hsi.2_Missense_Mutation_p.R158P|GUK1_uc001hsj.2_Missense_Mutation_p.R77P|GUK1_uc010pvv.1_Missense_Mutation_p.R137P|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	137	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)																---	---	---	---	capture		Missense_Mutation	SNP	228335335	228335335	7180	1	G	C	C	38	38	GUK1	C	3	3
RYR2	6262	broad.mit.edu	37	1	237794791	237794791	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237794791G>T	uc001hyl.1	+	42	6625	c.6505G>T	c.(6505-6507)GAG>TAG	p.E2169*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2169	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Nonsense_Mutation	SNP	237794791	237794791	14249	1	G	T	T	37	37	RYR2	T	5	1
SMYD3	64754	broad.mit.edu	37	1	246498753	246498753	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246498753C>T	uc001ibl.2	-	3	347	c.252G>A	c.(250-252)AAG>AAA	p.K84K	SMYD3_uc001ibk.2_Silent_p.K25K	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	84	MYND-type.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)														---	---	---	---	capture		Silent	SNP	246498753	246498753	15323	1	C	T	T	28	28	SMYD3	T	2	2
OR2C3	81472	broad.mit.edu	37	1	247695727	247695727	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247695727G>A	uc009xgy.2	-	2	449	c.87C>T	c.(85-87)TTC>TTT	p.F29F	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)															---	---	---	---	capture		Silent	SNP	247695727	247695727	11399	1	G	A	A	45	45	OR2C3	A	2	2
DCLRE1C	64421	broad.mit.edu	37	10	14995911	14995911	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14995911G>C	uc001inn.2	-	1	184	c.99C>G	c.(97-99)CAC>CAG	p.H33Q	DCLRE1C_uc010qbx.1_Missense_Mutation_p.H33Q|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_5'UTR|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	33				H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination.	DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1													Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					---	---	---	---	capture		Missense_Mutation	SNP	14995911	14995911	4467	10	G	C	C	36	36	DCLRE1C	C	3	3
VIM	7431	broad.mit.edu	37	10	17276803	17276803	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17276803G>T	uc001iou.2	+	6	1407	c.994G>T	c.(994-996)GCC>TCC	p.A332S	VIM_uc001iov.1_Missense_Mutation_p.A332S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.A332S|VIM_uc001ioy.1_Missense_Mutation_p.A332S|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.A332S	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	332	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	17276803	17276803	17733	10	G	T	T	46	46	VIM	T	2	2
ANKRD26	22852	broad.mit.edu	37	10	27326951	27326951	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27326951C>T	uc001ith.2	-	22	2577	c.2405G>A	c.(2404-2406)AGA>AAA	p.R802K	ANKRD26_uc001itg.2_Missense_Mutation_p.R489K|ANKRD26_uc009xku.1_Missense_Mutation_p.R803K	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	802	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	27326951	27326951	659	10	C	T	T	32	32	ANKRD26	T	2	2
PTCHD3	374308	broad.mit.edu	37	10	27687254	27687254	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27687254G>T	uc001itu.2	-	4	2391	c.2273C>A	c.(2272-2274)TCC>TAC	p.S758Y		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	758					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	27687254	27687254	13188	10	G	T	T	41	41	PTCHD3	T	2	2
ZEB1	6935	broad.mit.edu	37	10	31809110	31809110	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31809110T>C	uc001ivs.3	+	7	910	c.847T>C	c.(847-849)TAT>CAT	p.Y283H	ZEB1_uc001ivr.3_Missense_Mutation_p.Y65H|ZEB1_uc010qee.1_Missense_Mutation_p.Y65H|ZEB1_uc010qef.1_Missense_Mutation_p.Y65H|ZEB1_uc009xlj.1_Missense_Mutation_p.Y209H|ZEB1_uc010qeg.1_Missense_Mutation_p.Y142H|ZEB1_uc009xlk.1_Missense_Mutation_p.Y65H|ZEB1_uc001ivt.3_Missense_Mutation_p.Y65H|ZEB1_uc001ivu.3_Missense_Mutation_p.Y284H|ZEB1_uc001ivv.3_Missense_Mutation_p.Y263H|ZEB1_uc010qeh.1_Missense_Mutation_p.Y216H|ZEB1_uc009xlo.1_Missense_Mutation_p.Y266H|ZEB1_uc009xlp.2_Missense_Mutation_p.Y267H	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	283	C2H2-type 4; atypical.				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	31809110	31809110	18211	10	T	C	C	53	53	ZEB1	C	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37508496	37508496	+	Nonsense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37508496A>T	uc001iza.1	+	34	3787	c.3688A>T	c.(3688-3690)AGA>TGA	p.R1230*		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1286	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	37508496	37508496	663	10	A	T	T	3	3	ANKRD30A	T	5	4
SEC24C	9632	broad.mit.edu	37	10	75519790	75519790	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75519790C>T	uc001juw.2	+	6	675	c.496C>T	c.(496-498)CTG>TTG	p.L166L	SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Silent_p.L24L|SEC24C_uc001jux.2_Silent_p.L166L|SEC24C_uc010qko.1_Silent_p.L24L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	166					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)																	---	---	---	---	capture		Silent	SNP	75519790	75519790	14482	10	C	T	T	28	28	SEC24C	T	2	2
C10orf79	80217	broad.mit.edu	37	10	105905258	105905258	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105905258T>C	uc001kxw.2	-	31	4036	c.3920A>G	c.(3919-3921)TAC>TGC	p.Y1307C	C10orf79_uc009xxq.2_Missense_Mutation_p.Y586C	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1307											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---	capture		Missense_Mutation	SNP	105905258	105905258	1655	10	T	C	C	57	57	C10orf79	C	4	4
FAM196A	642938	broad.mit.edu	37	10	128973697	128973697	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128973697C>T	uc001lju.1	-	1	1004	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.Q321Q|FAM196A_uc001ljv.1_Silent_p.Q321Q|FAM196A_uc009yap.1_Silent_p.Q321Q	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	321										ovary(2)	2																		---	---	---	---	capture		Silent	SNP	128973697	128973697	5740	10	C	T	T	28	28	FAM196A	T	2	2
OR51M1	390059	broad.mit.edu	37	11	5411216	5411216	+	Silent	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5411216G>C	uc010qzc.1	+	1	588	c.588G>C	c.(586-588)GTG>GTC	p.V196V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	196						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	5411216	5411216	11513	11	G	C	C	45	45	OR51M1	C	3	3
SCUBE2	57758	broad.mit.edu	37	11	9051542	9051542	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9051542G>A	uc001mhh.1	-	18	2385	c.2305C>T	c.(2305-2307)CGT>TGT	p.R769C	SCUBE2_uc001mhi.1_Missense_Mutation_p.R741C|SCUBE2_uc001mhj.1_Missense_Mutation_p.R643C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	769						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---	capture		Missense_Mutation	SNP	9051542	9051542	14428	11	G	A	A	37	37	SCUBE2	A	1	1
NAV2	89797	broad.mit.edu	37	11	19955304	19955304	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19955304C>T	uc010rdm.1	+	8	1944	c.1583C>T	c.(1582-1584)GCC>GTC	p.A528V	NAV2_uc001mpp.2_Missense_Mutation_p.A441V|NAV2_uc001mpr.3_Missense_Mutation_p.A505V	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	528	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	19955304	19955304	10580	11	C	T	T	26	26	NAV2	T	2	2
CKAP5	9793	broad.mit.edu	37	11	46797843	46797843	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46797843C>T	uc001ndi.1	-	24	3063	c.2953G>A	c.(2953-2955)GAA>AAA	p.E985K	CKAP5_uc009ylg.1_Missense_Mutation_p.E871K|CKAP5_uc001ndj.1_Missense_Mutation_p.E985K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	985					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	46797843	46797843	3581	11	C	T	T	29	29	CKAP5	T	2	2
OR4B1	119765	broad.mit.edu	37	11	48238812	48238812	+	Missense_Mutation	SNP	T	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48238812T>G	uc010rhs.1	+	1	451	c.451T>G	c.(451-453)TTT>GTT	p.F151V		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	48238812	48238812	11450	11	T	G	G	56	56	OR4B1	G	4	4
LRRC55	219527	broad.mit.edu	37	11	56949576	56949576	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56949576C>A	uc001njl.1	+	1	356	c.209C>A	c.(208-210)GCC>GAC	p.A70D		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	40						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	56949576	56949576	9386	11	C	A	A	26	26	LRRC55	A	2	2
CTNND1	1500	broad.mit.edu	37	11	57569663	57569663	+	Missense_Mutation	SNP	T	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57569663T>G	uc001nmc.3	+	7	1986	c.1415T>G	c.(1414-1416)ATT>AGT	p.I472S	CTNND1_uc001nlh.1_Missense_Mutation_p.I472S|CTNND1_uc001nlu.3_Missense_Mutation_p.I371S|CTNND1_uc001nlt.3_Missense_Mutation_p.I371S|CTNND1_uc001nls.3_Missense_Mutation_p.I371S|CTNND1_uc001nlw.3_Missense_Mutation_p.I371S|CTNND1_uc001nmf.3_Missense_Mutation_p.I472S|CTNND1_uc001nmd.3_Missense_Mutation_p.I418S|CTNND1_uc001nlk.3_Missense_Mutation_p.I418S|CTNND1_uc001nme.3_Missense_Mutation_p.I472S|CTNND1_uc001nll.3_Missense_Mutation_p.I418S|CTNND1_uc001nmg.3_Missense_Mutation_p.I418S|CTNND1_uc001nlj.3_Missense_Mutation_p.I418S|CTNND1_uc001nlr.3_Missense_Mutation_p.I418S|CTNND1_uc001nlp.3_Missense_Mutation_p.I418S|CTNND1_uc001nlx.3_Missense_Mutation_p.I149S|CTNND1_uc001nlz.3_Missense_Mutation_p.I149S|CTNND1_uc009ymn.2_Missense_Mutation_p.I149S|CTNND1_uc001nlm.3_Missense_Mutation_p.I472S|CTNND1_uc001nly.3_Missense_Mutation_p.I149S|CTNND1_uc001nmb.3_Missense_Mutation_p.I149S|CTNND1_uc001nma.3_Missense_Mutation_p.I149S|CTNND1_uc001nmi.3_Missense_Mutation_p.I371S|CTNND1_uc001nmh.3_Missense_Mutation_p.I472S|CTNND1_uc001nlq.3_Missense_Mutation_p.I371S|CTNND1_uc001nln.3_Missense_Mutation_p.I472S|CTNND1_uc001nli.3_Missense_Mutation_p.I472S|CTNND1_uc001nlo.3_Missense_Mutation_p.I371S|CTNND1_uc001nlv.3_Missense_Mutation_p.I371S	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	472	ARM 3.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---	capture		Missense_Mutation	SNP	57569663	57569663	4178	11	T	G	G	52	52	CTNND1	G	4	4
MS4A6A	64231	broad.mit.edu	37	11	59943081	59943081	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59943081G>A	uc001nor.2	-	5	581	c.343C>T	c.(343-345)CAT>TAT	p.H115Y	MS4A6A_uc001noq.2_Missense_Mutation_p.H115Y|MS4A6A_uc001nos.3_Missense_Mutation_p.H143Y|MS4A6A_uc009ymv.2_Missense_Mutation_p.H115Y|MS4A6A_uc001not.2_Missense_Mutation_p.H115Y|MS4A6A_uc010rla.1_Missense_Mutation_p.H143Y|MS4A6A_uc010rlb.1_Missense_Mutation_p.H70Y	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	115	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	59943081	59943081	10257	11	G	A	A	46	46	MS4A6A	A	2	2
MS4A14	84689	broad.mit.edu	37	11	60182994	60182994	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60182994C>A	uc001npj.2	+	5	1118	c.553C>A	c.(553-555)CAA>AAA	p.Q185K	MS4A14_uc001npi.2_Missense_Mutation_p.Q73K|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.Q168K|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	185						integral to membrane	receptor activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	60182994	60182994	10251	11	C	A	A	29	29	MS4A14	A	2	2
SYT7	9066	broad.mit.edu	37	11	61290739	61290739	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61290739G>T	uc001nrv.2	-	8	921	c.915C>A	c.(913-915)TAC>TAA	p.Y305*	SYT7_uc009ynr.2_Nonsense_Mutation_p.Y380*	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	305	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	61290739	61290739	16000	11	G	T	T	40	40	SYT7	T	5	1
SLC22A12	116085	broad.mit.edu	37	11	64368969	64368969	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64368969G>C	uc001oam.1	+	10	2355	c.1608G>C	c.(1606-1608)AAG>AAC	p.K536N	SLC22A12_uc001oal.1_Missense_Mutation_p.K315N|SLC22A12_uc009yps.1_Missense_Mutation_p.K502N|SLC22A12_uc001oan.1_Missense_Mutation_p.K428N	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	536					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	64368969	64368969	14939	11	G	C	C	33	33	SLC22A12	C	3	3
NRXN2	9379	broad.mit.edu	37	11	64374839	64374839	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64374839G>A	uc001oap.2	-	8	2341	c.1830C>T	c.(1828-1830)GCC>GCT	p.A610A	NRXN2_uc001oar.2_Silent_p.A1656A|NRXN2_uc001oas.2_Silent_p.A1586A|NRXN2_uc001oao.2_Silent_p.A296A|NRXN2_uc001oaq.2_Silent_p.A1323A	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	610	Helical; (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10																		---	---	---	---	capture		Silent	SNP	64374839	64374839	11071	11	G	A	A	47	47	NRXN2	A	2	2
NADSYN1	55191	broad.mit.edu	37	11	71193945	71193945	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71193945A>G	uc001oqn.2	+	14	1327	c.1201A>G	c.(1201-1203)ACC>GCC	p.T401A	NADSYN1_uc001oqo.2_Missense_Mutation_p.T141A|NADSYN1_uc001oqp.2_Missense_Mutation_p.T30A	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	401	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	71193945	71193945	10534	11	A	G	G	6	6	NADSYN1	G	4	4
NUMA1	4926	broad.mit.edu	37	11	71719783	71719783	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71719783C>G	uc001orl.1	-	20	5339	c.5167G>C	c.(5167-5169)GAC>CAC	p.D1723H	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.D1272H|NUMA1_uc001ork.1_Missense_Mutation_p.D587H|NUMA1_uc001orm.1_Missense_Mutation_p.D1709H|NUMA1_uc001orn.2_Missense_Mutation_p.D1286H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1723					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---	capture		Missense_Mutation	SNP	71719783	71719783	11155	11	C	G	G	29	29	NUMA1	G	3	3
ODZ4	26011	broad.mit.edu	37	11	78467899	78467899	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78467899C>A	uc001ozl.3	-	19	3170	c.2707G>T	c.(2707-2709)GGC>TGC	p.G903C		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	903	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	78467899	78467899	11242	11	C	A	A	22	22	ODZ4	A	2	2
TYR	7299	broad.mit.edu	37	11	88911308	88911308	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88911308G>A	uc001pcs.2	+	1	269	c.187G>A	c.(187-189)GCA>ACA	p.A63T		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	63	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									Oculocutaneous_Albinism				---	---	---	---	capture		Missense_Mutation	SNP	88911308	88911308	17370	11	G	A	A	46	46	TYR	A	2	2
ARHGAP20	57569	broad.mit.edu	37	11	110450560	110450560	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110450560C>A	uc001pkz.1	-	16	3395	c.3110G>T	c.(3109-3111)TGG>TTG	p.W1037L	ARHGAP20_uc001pky.1_Missense_Mutation_p.W1014L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.W1001L|ARHGAP20_uc001pla.1_Missense_Mutation_p.W1001L|ARHGAP20_uc001plb.2_Missense_Mutation_p.W580L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1037					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)														---	---	---	---	capture		Missense_Mutation	SNP	110450560	110450560	881	11	C	A	A	21	21	ARHGAP20	A	2	2
LRTM2	654429	broad.mit.edu	37	12	1943433	1943433	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1943433G>T	uc001qjt.2	+	5	1465	c.659G>T	c.(658-660)GGG>GTG	p.G220V	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.G220V|LRTM2_uc010sdx.1_Missense_Mutation_p.G220V|LRTM2_uc001qjv.2_5'UTR	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	220	LRRCT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)															---	---	---	---	capture		Missense_Mutation	SNP	1943433	1943433	9421	12	G	T	T	43	43	LRTM2	T	2	2
KCNA5	3741	broad.mit.edu	37	12	5154720	5154720	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154720C>A	uc001qni.2	+	1	1636	c.1407C>A	c.(1405-1407)GAC>GAA	p.D469E		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	469						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	5154720	5154720	8311	12	C	A	A	19	19	KCNA5	A	1	1
NTF3	4908	broad.mit.edu	37	12	5603793	5603793	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5603793G>A	uc001qnl.3	+	1	496	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	NTF3_uc001qnk.3_Missense_Mutation_p.R151Q	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	138					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	5603793	5603793	11101	12	G	A	A	39	39	NTF3	A	1	1
A2M	2	broad.mit.edu	37	12	9251320	9251320	+	Silent	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9251320G>C	uc001qvk.1	-	15	1847	c.1734C>G	c.(1732-1734)CTC>CTG	p.L578L	A2M_uc009zgk.1_Silent_p.L428L	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	578					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---	capture		Silent	SNP	9251320	9251320	5	12	G	C	C	41	41	A2M	C	3	3
LRRK2	120892	broad.mit.edu	37	12	40681168	40681168	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40681168T>C	uc001rmg.3	+	20	2637	c.2516T>C	c.(2515-2517)CTA>CCA	p.L839P	LRRK2_uc001rmh.1_Missense_Mutation_p.L461P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	839					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---	capture		Missense_Mutation	SNP	40681168	40681168	9409	12	T	C	C	53	53	LRRK2	C	4	4
PRICKLE1	144165	broad.mit.edu	37	12	42858718	42858718	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42858718C>A	uc010skv.1	-	7	1405	c.1118G>T	c.(1117-1119)CGA>CTA	p.R373L	PRICKLE1_uc001rnl.2_Missense_Mutation_p.R373L|PRICKLE1_uc010skw.1_Missense_Mutation_p.R373L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R373L	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	373					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	42858718	42858718	12929	12	C	A	A	31	31	PRICKLE1	A	1	1
COL2A1	1280	broad.mit.edu	37	12	48387245	48387245	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48387245G>A	uc001rqu.2	-	15	1146	c.965C>T	c.(964-966)CCA>CTA	p.P322L	COL2A1_uc001rqv.2_Missense_Mutation_p.P253L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	322	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---	capture		Missense_Mutation	SNP	48387245	48387245	3825	12	G	A	A	47	47	COL2A1	A	2	2
ADCY6	112	broad.mit.edu	37	12	49169144	49169144	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49169144C>A	uc001rsh.3	-	10	2582	c.1922G>T	c.(1921-1923)CGG>CTG	p.R641L	ADCY6_uc001rsj.3_Missense_Mutation_p.R641L|ADCY6_uc001rsi.3_Missense_Mutation_p.R641L|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	641	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	49169144	49169144	299	12	C	A	A	23	23	ADCY6	A	1	1
SILV	6490	broad.mit.edu	37	12	56355204	56355204	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56355204C>T	uc001sip.2	-	3	262	c.231G>A	c.(229-231)CTG>CTA	p.L77L	SILV_uc001siq.2_Silent_p.L77L|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Silent_p.L77L	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	77					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0																		---	---	---	---	capture		Silent	SNP	56355204	56355204	14817	12	C	T	T	29	29	SILV	T	2	2
LEMD3	23592	broad.mit.edu	37	12	65564642	65564642	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65564642C>T	uc001ssl.1	+	1	1272	c.1266C>T	c.(1264-1266)CTC>CTT	p.L422L	LEMD3_uc009zqo.1_Silent_p.L422L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	422					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)														---	---	---	---	capture		Silent	SNP	65564642	65564642	9045	12	C	T	T	29	29	LEMD3	T	2	2
SOCS2	8835	broad.mit.edu	37	12	93968892	93968892	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93968892C>T	uc001tcw.1	+	3	1124	c.534C>T	c.(532-534)ATC>ATT	p.I178I	SOCS2_uc001tcx.1_Silent_p.I178I|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.I178I|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	178	SOCS box.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1																		---	---	---	---	capture		Silent	SNP	93968892	93968892	15414	12	C	T	T	32	32	SOCS2	T	2	2
TCTN1	79600	broad.mit.edu	37	12	111079360	111079360	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111079360C>T	uc009zvs.2	+	10	1226	c.1118C>T	c.(1117-1119)CCA>CTA	p.P373L	TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.P313L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.P359L|TCTN1_uc001trn.3_Missense_Mutation_p.P373L|TCTN1_uc001trj.1_Missense_Mutation_p.P317L|TCTN1_uc001trk.3_Intron|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	373					multicellular organismal development	extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	111079360	111079360	16248	12	C	T	T	21	21	TCTN1	T	2	2
ALG5	29880	broad.mit.edu	37	13	37573414	37573414	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37573414C>T	uc001uvy.2	-	1	91	c.24G>A	c.(22-24)CTG>CTA	p.L8L	ALG5_uc010teq.1_Silent_p.L8L|ALG5_uc010ter.1_RNA|EXOSC8_uc001uvz.2_5'Flank|EXOSC8_uc001uwb.2_5'Flank|EXOSC8_uc001uwa.2_5'Flank|EXOSC8_uc001uwc.2_5'Flank	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	8	Helical; Signal-anchor for type II membrane protein; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)														---	---	---	---	capture		Silent	SNP	37573414	37573414	524	13	C	T	T	21	21	ALG5	T	2	2
RB1	5925	broad.mit.edu	37	13	48881542	48881542	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48881542G>T	uc001vcb.2	+	2	430	c.264G>T	c.(262-264)TTG>TTT	p.L88F	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	88					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(13)|p.?(3)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	48881542	48881542	13559	13	G	T	T	47	47	RB1	T	2	2
OR4K5	79317	broad.mit.edu	37	14	20389096	20389096	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389096G>T	uc010tkw.1	+	1	331	c.331G>T	c.(331-333)GAG>TAG	p.E111*		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Nonsense_Mutation	SNP	20389096	20389096	11483	14	G	T	T	41	41	OR4K5	T	5	2
IPO4	79711	broad.mit.edu	37	14	24652691	24652691	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24652691C>A	uc001wmv.1	-	21	2223	c.2092G>T	c.(2092-2094)GTC>TTC	p.V698F	IPO4_uc001wmt.1_Missense_Mutation_p.V176F|IPO4_uc001wmu.2_Missense_Mutation_p.V360F|IPO4_uc001wmx.1_Missense_Mutation_p.V562F|IPO4_uc001wmy.1_Missense_Mutation_p.V562F|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.V698F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	698					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)														---	---	---	---	capture		Missense_Mutation	SNP	24652691	24652691	8096	14	C	A	A	17	17	IPO4	A	2	2
KLHDC2	23588	broad.mit.edu	37	14	50246318	50246318	+	Silent	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50246318A>G	uc001wwx.2	+	7	1039	c.639A>G	c.(637-639)AAA>AAG	p.K213K	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Silent_p.K213K|KLHDC2_uc010anp.2_Silent_p.K213K	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	213						nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)																	---	---	---	---	capture		Silent	SNP	50246318	50246318	8668	14	A	G	G	3	3	KLHDC2	G	4	4
HERC2	8924	broad.mit.edu	37	15	28456229	28456229	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28456229G>A	uc001zbj.2	-	44	7094	c.6988C>T	c.(6988-6990)CGG>TGG	p.R2330W		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2330					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	28456229	28456229	7341	15	G	A	A	37	37	HERC2	A	1	1
ANPEP	290	broad.mit.edu	37	15	90340950	90340950	+	Silent	SNP	G	C	C	rs150492701	byFrequency	TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90340950G>C	uc002bop.3	-	15	2305	c.2013C>G	c.(2011-2013)GCC>GCG	p.A671A		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	671	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---	capture		Silent	SNP	90340950	90340950	718	15	G	C	C	43	43	ANPEP	C	3	3
CLEC18B	497190	broad.mit.edu	37	16	74443468	74443468	+	Missense_Mutation	SNP	T	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74443468T>G	uc002fct.2	-	12	1510	c.1310A>C	c.(1309-1311)AAC>ACC	p.N437T	CLEC18B_uc002fcu.2_Missense_Mutation_p.N428T	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	437	C-type lectin.					extracellular region	sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	74443468	74443468	3640	16	T	G	G	60	60	CLEC18B	G	4	4
CLEC18B	497190	broad.mit.edu	37	16	74443487	74443487	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74443487G>C	uc002fct.2	-	12	1491	c.1291C>G	c.(1291-1293)CAG>GAG	p.Q431E	CLEC18B_uc002fcu.2_Missense_Mutation_p.Q422E	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	431	C-type lectin.					extracellular region	sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	74443487	74443487	3640	16	G	C	C	47	47	CLEC18B	C	3	3
BCAR1	9564	broad.mit.edu	37	16	75263782	75263782	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75263782T>C	uc002fdv.2	-	7	2363	c.2240A>G	c.(2239-2241)TAC>TGC	p.Y747C	BCAR1_uc002fdt.2_Missense_Mutation_p.Y200C|BCAR1_uc002fdu.2_Missense_Mutation_p.Y537C|BCAR1_uc010cgu.2_Missense_Mutation_p.Y736C|BCAR1_uc010vna.1_Missense_Mutation_p.Y745C|BCAR1_uc010vnb.1_Missense_Mutation_p.Y793C|BCAR1_uc002fdw.2_Missense_Mutation_p.Y747C|BCAR1_uc010vnc.1_Missense_Mutation_p.Y599C|BCAR1_uc010vnd.1_Missense_Mutation_p.Y765C|BCAR1_uc002fdx.2_Missense_Mutation_p.Y765C	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	747	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)														---	---	---	---	capture		Missense_Mutation	SNP	75263782	75263782	1369	16	T	C	C	57	57	BCAR1	C	4	4
TP53	7157	broad.mit.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578507G>C	uc002gim.2	-	5	617	c.423C>G	c.(421-423)TGC>TGG	p.C141W	TP53_uc002gig.1_Missense_Mutation_p.C141W|TP53_uc002gih.2_Missense_Mutation_p.C141W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C9W|TP53_uc010cng.1_Missense_Mutation_p.C9W|TP53_uc002gii.1_Missense_Mutation_p.C9W|TP53_uc010cnh.1_Missense_Mutation_p.C141W|TP53_uc010cni.1_Missense_Mutation_p.C141W|TP53_uc002gij.2_Missense_Mutation_p.C141W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C48W|TP53_uc002gio.2_Missense_Mutation_p.C9W|TP53_uc010vug.1_Missense_Mutation_p.C102W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	141	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (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.C141Y(61)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.0?(7)|p.C141C(4)|p.C141F(4)|p.C141fs*29(3)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A138_V143delAKTCPV(1)|p.A138_P142delAKTCP(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)			---	---	---	---	capture		Missense_Mutation	SNP	7578507	7578507	16923	17	G	C	C	42	42	TP53	C	3	3
CHD3	1107	broad.mit.edu	37	17	7793959	7793959	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7793959A>G	uc002gje.2	+	3	434	c.284A>G	c.(283-285)TAT>TGT	p.Y95C	CHD3_uc002gjd.2_Missense_Mutation_p.Y154C|CHD3_uc002gjf.2_Missense_Mutation_p.Y95C|CHD3_uc002gjg.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	95					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)																---	---	---	---	capture		Missense_Mutation	SNP	7793959	7793959	3460	17	A	G	G	16	16	CHD3	G	4	4
MYH2	4620	broad.mit.edu	37	17	10429113	10429113	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10429113G>T	uc010coi.2	-	31	4396	c.4268C>A	c.(4267-4269)ACG>AAG	p.T1423K	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1423K|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1423	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	10429113	10429113	10430	17	G	T	T	40	40	MYH2	T	1	1
CLTC	1213	broad.mit.edu	37	17	57733276	57733276	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57733276A>T	uc002ixq.1	+	6	1300	c.857A>T	c.(856-858)GAT>GTT	p.D286V	CLTC_uc002ixp.2_Missense_Mutation_p.D286V|CLTC_uc002ixr.1_Missense_Mutation_p.D290V	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	286	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---	capture		Missense_Mutation	SNP	57733276	57733276	3704	17	A	T	T	12	12	CLTC	T	4	4
ABCA10	10349	broad.mit.edu	37	17	67215713	67215713	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67215713A>T	uc010dfa.1	-	7	1382	c.503T>A	c.(502-504)GTG>GAG	p.V168E	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Missense_Mutation_p.V60E	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	168					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)																	---	---	---	---	capture		Missense_Mutation	SNP	67215713	67215713	30	17	A	T	T	6	6	ABCA10	T	4	4
ICT1	3396	broad.mit.edu	37	17	73008861	73008861	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73008861G>A	uc002jmm.2	+	1	82	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	27					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)															OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	73008861	73008861	7788	17	G	A	A	38	38	ICT1	A	1	1
NOTUM	147111	broad.mit.edu	37	17	79914879	79914879	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79914879G>T	uc010wvg.1	-	7	1039	c.767C>A	c.(766-768)GCC>GAC	p.A256D		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	256						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---	capture		Missense_Mutation	SNP	79914879	79914879	10956	17	G	T	T	42	42	NOTUM	T	2	2
TCEB3B	51224	broad.mit.edu	37	18	44559910	44559910	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44559910C>T	uc002lcr.1	-	1	2079	c.1726G>A	c.(1726-1728)GCA>ACA	p.A576T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	576	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	44559910	44559910	16208	18	C	T	T	27	27	TCEB3B	T	1	1
ZCCHC2	54877	broad.mit.edu	37	18	60223462	60223462	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60223462C>G	uc002lip.3	+	6	1340	c.1340C>G	c.(1339-1341)GCT>GGT	p.A447G	ZCCHC2_uc002lio.2_RNA	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	447					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	60223462	60223462	18175	18	C	G	G	28	28	ZCCHC2	G	3	3
NFATC1	4772	broad.mit.edu	37	18	77193660	77193660	+	Silent	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77193660C>G	uc010xfg.1	+	3	1761	c.1308C>G	c.(1306-1308)TCC>TCG	p.S436S	NFATC1_uc002lnc.1_Silent_p.S436S|NFATC1_uc010xff.1_Silent_p.S436S|NFATC1_uc002lnd.2_Silent_p.S436S|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Silent_p.S436S|NFATC1_uc010xfi.1_Silent_p.S423S|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Silent_p.S423S|NFATC1_uc002lng.2_Silent_p.S423S|NFATC1_uc010xfk.1_Silent_p.S423S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	436	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---	capture		Silent	SNP	77193660	77193660	10761	18	C	G	G	22	22	NFATC1	G	3	3
ABCA7	10347	broad.mit.edu	37	19	1051539	1051539	+	Silent	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1051539T>C	uc002lqw.3	+	21	3147	c.2916T>C	c.(2914-2916)CCT>CCC	p.P972P	ABCA7_uc010dsb.1_Silent_p.P834P	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	972	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)														---	---	---	---	capture		Silent	SNP	1051539	1051539	38	19	T	C	C	55	55	ABCA7	C	4	4
MUC16	94025	broad.mit.edu	37	19	9063785	9063785	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9063785G>A	uc002mkp.2	-	3	23865	c.23661C>T	c.(23659-23661)ACC>ACT	p.T7887T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7889	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Silent	SNP	9063785	9063785	10367	19	G	A	A	39	39	MUC16	A	1	1
FARSA	2193	broad.mit.edu	37	19	13035919	13035919	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13035919C>T	uc002mvs.2	-	8	959	c.911G>A	c.(910-912)GGC>GAC	p.G304D	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.G273D|FARSA_uc010dyy.1_Missense_Mutation_p.G225D	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	304					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)													---	---	---	---	capture		Missense_Mutation	SNP	13035919	13035919	5915	19	C	T	T	26	26	FARSA	T	2	2
EMR3	84658	broad.mit.edu	37	19	14765947	14765947	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14765947G>A	uc002mzi.3	-	6	572	c.424C>T	c.(424-426)CTT>TTT	p.L142F	EMR3_uc010dzp.2_Missense_Mutation_p.L90F|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	142	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	14765947	14765947	5299	19	G	A	A	36	36	EMR3	A	2	2
B3GNT3	10331	broad.mit.edu	37	19	17922703	17922703	+	Silent	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17922703T>C	uc002nhk.1	+	3	976	c.891T>C	c.(889-891)GAT>GAC	p.D297D	B3GNT3_uc002nhl.1_Silent_p.D297D|B3GNT3_uc010ebd.1_Silent_p.D297D|B3GNT3_uc010ebe.1_Silent_p.D297D	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	297	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Silent	SNP	17922703	17922703	1279	19	T	C	C	51	51	B3GNT3	C	4	4
JUND	3727	broad.mit.edu	37	19	18391543	18391543	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18391543C>T	uc002nip.2	-	1	890	c.752G>A	c.(751-753)AGC>AAC	p.S251N	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	251					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	18391543	18391543	8275	19	C	T	T	28	28	JUND	T	2	2
GDF15	9518	broad.mit.edu	37	19	18499285	18499285	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18499285A>C	uc002niv.2	+	2	499	c.467A>C	c.(466-468)CAC>CCC	p.H156P		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	156					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1																OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	18499285	18499285	6581	19	A	C	C	6	6	GDF15	C	4	4
ZNF99	7652	broad.mit.edu	37	19	22941130	22941130	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22941130A>T	uc010xrh.1	-	5	1308	c.1308T>A	c.(1306-1308)CAT>CAA	p.H436Q		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---	capture		Missense_Mutation	SNP	22941130	22941130	18808	19	A	T	T	16	16	ZNF99	T	4	4
ZNF585B	92285	broad.mit.edu	37	19	37677356	37677356	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37677356C>T	uc002ofq.2	-	5	1337	c.1083G>A	c.(1081-1083)AAG>AAA	p.K361K	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.K175K	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Silent	SNP	37677356	37677356	18613	19	C	T	T	24	24	ZNF585B	T	2	2
PRX	57716	broad.mit.edu	37	19	40902712	40902712	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40902712C>A	uc002onr.2	-	7	1816	c.1547G>T	c.(1546-1548)CGG>CTG	p.R516L	PRX_uc002onq.2_Missense_Mutation_p.R377L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	516	13.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---	capture		Missense_Mutation	SNP	40902712	40902712	13093	19	C	A	A	23	23	PRX	A	1	1
DHDH	27294	broad.mit.edu	37	19	49442786	49442786	+	Silent	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49442786G>T	uc002ple.1	+	4	487	c.447G>T	c.(445-447)GTG>GTT	p.V149V		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	149					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)														---	---	---	---	capture		Silent	SNP	49442786	49442786	4658	19	G	T	T	47	47	DHDH	T	2	2
LILRA3	11026	broad.mit.edu	37	19	54803248	54803248	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54803248G>A	uc002qfd.2	-	4	494	c.429C>T	c.(427-429)ATC>ATT	p.I143I	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.I143I	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	143	Ig-like C2-type 2.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Silent	SNP	54803248	54803248	9112	19	G	A	A	41	41	LILRA3	A	2	2
NLRP7	199713	broad.mit.edu	37	19	55450740	55450740	+	Nonsense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55450740C>A	uc002qih.3	-	4	1523	c.1447G>T	c.(1447-1449)GAG>TAG	p.E483*	NLRP7_uc002qig.3_Nonsense_Mutation_p.E483*|NLRP7_uc002qii.3_Nonsense_Mutation_p.E483*|NLRP7_uc010esk.2_Nonsense_Mutation_p.E483*|NLRP7_uc010esl.2_Nonsense_Mutation_p.E511*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	483	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---	capture		Nonsense_Mutation	SNP	55450740	55450740	10885	19	C	A	A	30	30	NLRP7	A	5	2
SNX17	9784	broad.mit.edu	37	2	27596776	27596776	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27596776A>T	uc002rkg.1	+	5	592	c.370A>T	c.(370-372)AGC>TGC	p.S124C	SNX17_uc010ylj.1_Missense_Mutation_p.S104C|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Missense_Mutation_p.S112C|SNX17_uc010ylo.1_Missense_Mutation_p.S42C|SNX17_uc010ylp.1_Missense_Mutation_p.S99C|SNX17_uc010ylq.1_5'UTR	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	124	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	27596776	27596776	15388	2	A	T	T	7	7	SNX17	T	4	4
PLB1	151056	broad.mit.edu	37	2	28741349	28741349	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28741349C>T	uc002rmb.1	+	3	134	c.134C>T	c.(133-135)CCA>CTA	p.P45L	PLB1_uc010ezj.1_Missense_Mutation_p.P45L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	45	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	28741349	28741349	12450	2	C	T	T	21	21	PLB1	T	2	2
EHD3	30845	broad.mit.edu	37	2	31472300	31472300	+	Silent	SNP	G	A	A	rs138864640		TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31472300G>A	uc002rnu.2	+	3	1076	c.468G>A	c.(466-468)GGG>GGA	p.G156G	EHD3_uc010ymt.1_Silent_p.G156G	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	156					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Silent	SNP	31472300	31472300	5168	2	G	A	A	41	41	EHD3	A	2	2
LTBP1	4052	broad.mit.edu	37	2	33590482	33590482	+	Silent	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33590482G>T	uc002ros.2	+	31	4626	c.4626G>T	c.(4624-4626)GTG>GTT	p.V1542V	LTBP1_uc002rot.2_Silent_p.V1216V|LTBP1_uc002rou.2_Silent_p.V1215V|LTBP1_uc002rov.2_Silent_p.V1162V|LTBP1_uc010ymz.1_Silent_p.V1173V|LTBP1_uc010yna.1_Silent_p.V1120V|LTBP1_uc010ynb.1_Silent_p.V439V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1541	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---	capture		Silent	SNP	33590482	33590482	9449	2	G	T	T	47	47	LTBP1	T	2	2
GGCX	2677	broad.mit.edu	37	2	85780514	85780514	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85780514G>A	uc002sps.2	-	8	1102	c.996C>T	c.(994-996)CCC>CCT	p.P332P	GGCX_uc010yss.1_Silent_p.P171P|GGCX_uc010yst.1_Silent_p.P275P	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	332	Cytoplasmic (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)													---	---	---	---	capture		Silent	SNP	85780514	85780514	6624	2	G	A	A	43	43	GGCX	A	2	2
VWA3B	200403	broad.mit.edu	37	2	98846666	98846666	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98846666C>A	uc002syo.2	+	16	2568	c.2304C>A	c.(2302-2304)CAC>CAA	p.H768Q	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.H287Q|VWA3B_uc002sym.2_Missense_Mutation_p.H768Q|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.H425Q|VWA3B_uc002syp.1_Missense_Mutation_p.H160Q|VWA3B_uc002syq.1_Missense_Mutation_p.H44Q|VWA3B_uc002syr.1_Missense_Mutation_p.H85Q	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	768										ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	98846666	98846666	17810	2	C	A	A	19	19	VWA3B	A	1	1
ACOXL	55289	broad.mit.edu	37	2	111598951	111598951	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111598951G>C	uc002tgr.3	+	10	981	c.757G>C	c.(757-759)GGG>CGG	p.G253R	ACOXL_uc010fkc.2_Missense_Mutation_p.G253R|ACOXL_uc010yxk.1_Missense_Mutation_p.G253R	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	253					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	111598951	111598951	162	2	G	C	C	47	47	ACOXL	C	3	3
DPP10	57628	broad.mit.edu	37	2	116593772	116593772	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:116593772G>T	uc002tla.1	+	22	2447	c.1990G>T	c.(1990-1992)GAT>TAT	p.D664Y	DPP10_uc002tlb.1_Missense_Mutation_p.D614Y|DPP10_uc002tlc.1_Missense_Mutation_p.D660Y|DPP10_uc002tle.2_Missense_Mutation_p.D668Y|DPP10_uc002tlf.1_Missense_Mutation_p.D657Y	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	664	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	116593772	116593772	4911	2	G	T	T	33	33	DPP10	T	2	2
TMEM37	140738	broad.mit.edu	37	2	120194538	120194538	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120194538C>T	uc002tly.2	+	2	129	c.95C>T	c.(94-96)ACG>ATG	p.T32M		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	32	Helical; (Potential).					integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	120194538	120194538	16697	2	C	T	T	19	19	TMEM37	T	1	1
POTEE	445582	broad.mit.edu	37	2	131976176	131976176	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131976176C>T	uc002tsn.2	+	1	253	c.201C>T	c.(199-201)CAC>CAT	p.H67H	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,	67							ATP binding				0																		---	---	---	---	capture		Silent	SNP	131976176	131976176	12694	2	C	T	T	20	20	POTEE	T	2	2
CCDC74A	90557	broad.mit.edu	37	2	132288288	132288288	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132288288G>T	uc002tta.2	+	3	484	c.432G>T	c.(430-432)AGG>AGT	p.R144S	CCDC74A_uc002ttb.2_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	144										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	132288288	132288288	2970	2	G	T	T	42	42	CCDC74A	T	2	2
FAP	2191	broad.mit.edu	37	2	163059422	163059422	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163059422A>G	uc002ucd.2	-	14	1391	c.1183T>C	c.(1183-1185)TGG>CGG	p.W395R	FAP_uc010zct.1_Missense_Mutation_p.W370R|FAP_uc010fpd.2_Intron	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	395	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	163059422	163059422	5909	2	A	G	G	6	6	FAP	G	4	4
TTN	7273	broad.mit.edu	37	2	179517248	179517248	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179517248C>T	uc010zfg.1	-	156	31986	c.31762G>A	c.(31762-31764)GTT>ATT	p.V10588I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11515							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179517248	179517248	17290	2	C	T	T	20	20	TTN	T	2	2
PTH2R	5746	broad.mit.edu	37	2	209324667	209324667	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209324667C>T	uc002vdb.2	+	9	1175	c.962C>T	c.(961-963)CCG>CTG	p.P321L	PTH2R_uc010zjb.1_Missense_Mutation_p.P332L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	321	Helical; Name=5; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---	capture		Missense_Mutation	SNP	209324667	209324667	13215	2	C	T	T	23	23	PTH2R	T	1	1
CUL3	8452	broad.mit.edu	37	2	225346608	225346608	+	Splice_Site	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225346608C>T	uc002vny.2	-	14	2413	c.2029_splice	c.e14+1	p.V677_splice	CUL3_uc010zls.1_Splice_Site_p.V611_splice|CUL3_uc010fwy.1_Splice_Site_p.V683_splice	NM_003590	NP_003581			cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---	capture		Splice_Site	SNP	225346608	225346608	4216	2	C	T	T	18	18	CUL3	T	5	2
CUL3	8452	broad.mit.edu	37	2	225376227	225376227	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225376227C>T	uc002vny.2	-	6	1111	c.727G>A	c.(727-729)GAA>AAA	p.E243K	CUL3_uc010zls.1_Missense_Mutation_p.E177K|CUL3_uc010fwy.1_Missense_Mutation_p.E249K	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	243					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---	capture		Missense_Mutation	SNP	225376227	225376227	4216	2	C	T	T	29	29	CUL3	T	2	2
PDCD1	5133	broad.mit.edu	37	2	242795003	242795003	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242795003C>T	uc002wcq.3	-	2	274	c.206G>A	c.(205-207)CGC>CAC	p.R69H	PDCD1_uc010fzs.2_5'UTR|PDCD1_uc010fzt.2_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	69	Ig-like V-type.|Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)														---	---	---	---	capture		Missense_Mutation	SNP	242795003	242795003	12036	2	C	T	T	27	27	PDCD1	T	1	1
SEC23B	10483	broad.mit.edu	37	20	18529263	18529263	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18529263A>T	uc002wqz.1	+	16	2197	c.1754A>T	c.(1753-1755)CAT>CTT	p.H585L	SEC23B_uc002wra.1_Missense_Mutation_p.H585L|SEC23B_uc002wrb.1_Missense_Mutation_p.H585L|SEC23B_uc010zsb.1_Missense_Mutation_p.H567L|SEC23B_uc002wrc.1_Missense_Mutation_p.H585L	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	585					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	18529263	18529263	14478	20	A	T	T	8	8	SEC23B	T	4	4
KIAA1755	85449	broad.mit.edu	37	20	36841984	36841984	+	Silent	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36841984C>G	uc002xhy.1	-	14	3335	c.3063G>C	c.(3061-3063)GTG>GTC	p.V1021V	KIAA1755_uc002xhv.1_Silent_p.V85V|KIAA1755_uc002xhw.1_Silent_p.V76V|KIAA1755_uc002xhx.1_Silent_p.V299V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1021										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Silent	SNP	36841984	36841984	8568	20	C	G	G	21	21	KIAA1755	G	3	3
DDX27	55661	broad.mit.edu	37	20	47838119	47838119	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47838119G>A	uc002xuh.2	+	2	378	c.317G>A	c.(316-318)AGC>AAC	p.S106N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	106	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---	capture		Missense_Mutation	SNP	47838119	47838119	4525	20	G	A	A	34	34	DDX27	A	2	2
ZFP64	55734	broad.mit.edu	37	20	50701752	50701752	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50701752C>A	uc002xwk.2	-	9	1631	c.1282G>T	c.(1282-1284)GAC>TAC	p.D428Y	ZFP64_uc002xwj.2_Missense_Mutation_p.D209Y	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	50701752	50701752	18241	20	C	A	A	30	30	ZFP64	A	2	2
SAMSN1	64092	broad.mit.edu	37	21	15882692	15882692	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15882692C>A	uc002yju.1	-	5	582	c.500G>T	c.(499-501)CGT>CTT	p.R167L	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R235L	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	167	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)														---	---	---	---	capture		Missense_Mutation	SNP	15882692	15882692	14310	21	C	A	A	19	19	SAMSN1	A	1	1
MGAT3	4248	broad.mit.edu	37	22	39884019	39884019	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39884019G>T	uc003axv.3	+	2	906	c.667G>T	c.(667-669)GTG>TTG	p.V223L	MGAT3_uc010gxy.2_Missense_Mutation_p.V223L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	223	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)																	---	---	---	---	capture		Missense_Mutation	SNP	39884019	39884019	9934	22	G	T	T	40	40	MGAT3	T	1	1
KIAA1407	57577	broad.mit.edu	37	3	113761550	113761550	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113761550C>A	uc003eax.2	-	4	562	c.415G>T	c.(415-417)GAT>TAT	p.D139Y	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.D117Y|KIAA1407_uc011bip.1_Missense_Mutation_p.D126Y	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	139										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	113761550	113761550	8538	3	C	A	A	21	21	KIAA1407	A	2	2
ZNF80	7634	broad.mit.edu	37	3	113955592	113955592	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113955592G>T	uc010hqo.2	-	1	834	c.330C>A	c.(328-330)TGC>TGA	p.C110*	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	110	C2H2-type 3; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)																---	---	---	---	capture		Nonsense_Mutation	SNP	113955592	113955592	18766	3	G	T	T	38	38	ZNF80	T	5	1
ARHGAP31	57514	broad.mit.edu	37	3	119133421	119133421	+	Missense_Mutation	SNP	T	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119133421T>G	uc003ecj.3	+	12	3177	c.2645T>G	c.(2644-2646)GTA>GGA	p.V882G		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	882					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	119133421	119133421	892	3	T	G	G	57	57	ARHGAP31	G	4	4
KALRN	8997	broad.mit.edu	37	3	124209608	124209608	+	Silent	SNP	G	T	T	rs139928910		TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124209608G>T	uc003ehg.2	+	30	4585	c.4458G>T	c.(4456-4458)CCG>CCT	p.P1486P	KALRN_uc010hrv.1_Silent_p.P1477P|KALRN_uc003ehf.1_Silent_p.P1486P|KALRN_uc011bjy.1_Silent_p.P1477P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1486	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	124209608	124209608	8279	3	G	T	T	37	37	KALRN	T	1	1
NPHP3	27031	broad.mit.edu	37	3	132423171	132423171	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132423171C>G	uc003epe.1	-	9	1472	c.1395G>C	c.(1393-1395)TTG>TTC	p.L465F	NPHP3_uc003epf.1_Missense_Mutation_p.L220F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	465					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	132423171	132423171	10984	3	C	G	G	21	21	NPHP3	G	3	3
VPS8	23355	broad.mit.edu	37	3	184586825	184586825	+	Splice_Site	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184586825G>T	uc003fpb.1	+	18	1762	c.1591_splice	c.e18+1	p.G531_splice	VPS8_uc010hyd.1_Splice_Site_p.G531_splice	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---	capture		Splice_Site	SNP	184586825	184586825	17785	3	G	T	T	44	44	VPS8	T	5	2
BCL6	604	broad.mit.edu	37	3	187442826	187442826	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:187442826T>C	uc003frp.3	-	9	2337	c.1880A>G	c.(1879-1881)GAG>GGG	p.E627G	BCL6_uc011bsf.1_Missense_Mutation_p.E571G|BCL6_uc010hza.2_Missense_Mutation_p.E525G|BCL6_uc003frq.1_Missense_Mutation_p.E627G	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	627					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)				T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								---	---	---	---	capture		Missense_Mutation	SNP	187442826	187442826	1397	3	T	C	C	54	54	BCL6	C	4	4
ADAD1	132612	broad.mit.edu	37	4	123336548	123336548	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123336548A>G	uc003ieo.2	+	11	1496	c.1264A>G	c.(1264-1266)AGT>GGT	p.S422G	ADAD1_uc003iep.2_Missense_Mutation_p.S411G|ADAD1_uc003ieq.2_Missense_Mutation_p.S404G	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	422	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	123336548	123336548	232	4	A	G	G	7	7	ADAD1	G	4	4
BBS12	166379	broad.mit.edu	37	4	123663366	123663366	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123663366G>T	uc003ieu.2	+	2	512	c.319G>T	c.(319-321)GTC>TTC	p.V107F		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	107					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2														Bardet-Biedl_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	123663366	123663366	1358	4	G	T	T	48	48	BBS12	T	2	2
BBS12	166379	broad.mit.edu	37	4	123663906	123663906	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123663906G>T	uc003ieu.2	+	2	1052	c.859G>T	c.(859-861)GAA>TAA	p.E287*		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	287					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2														Bardet-Biedl_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	123663906	123663906	1358	4	G	T	T	33	33	BBS12	T	5	2
PCDH10	57575	broad.mit.edu	37	4	134071494	134071494	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134071494A>T	uc003iha.2	+	1	1025	c.199A>T	c.(199-201)AAC>TAC	p.N67Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.N67Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---	capture		Missense_Mutation	SNP	134071494	134071494	11927	4	A	T	T	5	5	PCDH10	T	4	4
TKTL2	84076	broad.mit.edu	37	4	164393523	164393523	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393523G>T	uc003iqp.3	-	1	1525	c.1364C>A	c.(1363-1365)GCC>GAC	p.A455D		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	455						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	164393523	164393523	16465	4	G	T	T	42	42	TKTL2	T	2	2
MAP1B	4131	broad.mit.edu	37	5	71493130	71493130	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71493130G>A	uc003kbw.3	+	5	4189	c.3948G>A	c.(3946-3948)AAG>AAA	p.K1316K	MAP1B_uc010iyw.1_Silent_p.K1333K|MAP1B_uc010iyx.1_Silent_p.K1190K|MAP1B_uc010iyy.1_Silent_p.K1190K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1316						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)														---	---	---	---	capture		Silent	SNP	71493130	71493130	9611	5	G	A	A	33	33	MAP1B	A	2	2
FAM170A	340069	broad.mit.edu	37	5	118968463	118968463	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118968463G>C	uc003ksm.2	+	2	301	c.91G>C	c.(91-93)GAT>CAT	p.D31H	FAM170A_uc003ksl.2_Missense_Mutation_p.D31H|FAM170A_uc003ksn.2_Missense_Mutation_p.D31H|FAM170A_uc003kso.2_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	31						intracellular	zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	118968463	118968463	5693	5	G	C	C	41	41	FAM170A	C	3	3
ATP10B	23120	broad.mit.edu	37	5	160097670	160097670	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160097670C>G	uc003lym.1	-	7	1322	c.475G>C	c.(475-477)GAG>CAG	p.E159Q	ATP10B_uc003lyp.2_Missense_Mutation_p.E159Q|ATP10B_uc011deg.1_Missense_Mutation_p.E203Q|ATP10B_uc003lyo.2_Missense_Mutation_p.E131Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	159	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	160097670	160097670	1136	5	C	G	G	32	32	ATP10B	G	3	3
LRFN2	57497	broad.mit.edu	37	6	40399704	40399704	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40399704G>C	uc003oph.1	-	2	1614	c.1149C>G	c.(1147-1149)AGC>AGG	p.S383R		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	383	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	40399704	40399704	9311	6	G	C	C	46	46	LRFN2	C	3	3
EYS	346007	broad.mit.edu	37	6	66204811	66204811	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66204811G>C	uc011dxu.1	-	4	1031	c.493C>G	c.(493-495)CTA>GTA	p.L165V	EYS_uc003peq.2_Missense_Mutation_p.L165V|EYS_uc003per.1_Missense_Mutation_p.L165V|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	165					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	66204811	66204811	5526	6	G	C	C	36	36	EYS	C	3	3
IMPG1	3617	broad.mit.edu	37	6	76715078	76715078	+	Missense_Mutation	SNP	T	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76715078T>G	uc003pik.1	-	10	1191	c.1061A>C	c.(1060-1062)GAC>GCC	p.D354A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	354					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---	capture		Missense_Mutation	SNP	76715078	76715078	8029	6	T	G	G	58	58	IMPG1	G	4	4
NT5E	4907	broad.mit.edu	37	6	86181076	86181076	+	Silent	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86181076C>A	uc003pko.3	+	3	1240	c.684C>A	c.(682-684)CTC>CTA	p.L228L	NT5E_uc003pkn.2_Silent_p.L228L|NT5E_uc010kbr.2_Silent_p.L228L	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	228					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)													---	---	---	---	capture		Silent	SNP	86181076	86181076	11098	6	C	A	A	29	29	NT5E	A	2	2
ORC3L	23595	broad.mit.edu	37	6	88331094	88331094	+	Missense_Mutation	SNP	A	G	G	rs147755470		TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88331094A>G	uc003pmh.2	+	10	1054	c.1010A>G	c.(1009-1011)TAT>TGT	p.Y337C	ORC3L_uc011dzl.1_Missense_Mutation_p.Y337C|ORC3L_uc011dzm.1_Missense_Mutation_p.Y337C|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.Y337C|ORC3L_uc003pmi.2_Missense_Mutation_p.Y299C|ORC3L_uc011dzo.1_Missense_Mutation_p.Y194C|ORC3L_uc011dzp.1_Missense_Mutation_p.Y194C	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	337					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)														---	---	---	---	capture		Missense_Mutation	SNP	88331094	88331094	11674	6	A	G	G	16	16	ORC3L	G	4	4
MANEA	79694	broad.mit.edu	37	6	96053766	96053766	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96053766A>T	uc003poo.1	+	5	1014	c.874A>T	c.(874-876)AAT>TAT	p.N292Y		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	292	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)														---	---	---	---	capture		Missense_Mutation	SNP	96053766	96053766	9604	6	A	T	T	5	5	MANEA	T	4	4
C6orf204	387119	broad.mit.edu	37	6	118887060	118887060	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:118887060T>C	uc003pxz.1	-	3	1240	c.652A>G	c.(652-654)ATA>GTA	p.I218V	C6orf204_uc003pya.1_Missense_Mutation_p.I221V|C6orf204_uc003pyb.2_Missense_Mutation_p.I218V|C6orf204_uc011ebj.1_Missense_Mutation_p.I116V|C6orf204_uc003pyc.2_Missense_Mutation_p.I221V|C6orf204_uc011ebl.1_Missense_Mutation_p.I116V	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	218						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)														---	---	---	---	capture		Missense_Mutation	SNP	118887060	118887060	2458	6	T	C	C	52	52	C6orf204	C	4	4
TCP10	6953	broad.mit.edu	37	6	167786681	167786681	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167786681G>A	uc003qvv.1	-	8	1169	c.957C>T	c.(955-957)CCC>CCT	p.P319P	TCP10_uc003qvu.2_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	t-complex 10	346						cytosol				breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)														---	---	---	---	capture		Silent	SNP	167786681	167786681	16236	6	G	A	A	35	35	TCP10	A	2	2
GLCCI1	113263	broad.mit.edu	37	7	8095089	8095089	+	Silent	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8095089A>G	uc003srk.2	+	4	1282	c.723A>G	c.(721-723)CTA>CTG	p.L241L		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	241	Potential.										0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)														---	---	---	---	capture		Silent	SNP	8095089	8095089	6699	7	A	G	G	14	14	GLCCI1	G	4	4
ADCYAP1R1	117	broad.mit.edu	37	7	31126093	31126093	+	Silent	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31126093G>T	uc003tca.1	+	10	988	c.765G>T	c.(763-765)CTG>CTT	p.L255L	ADCYAP1R1_uc003tcb.1_Silent_p.L234L|ADCYAP1R1_uc003tcc.1_Silent_p.L255L|ADCYAP1R1_uc003tcd.1_Silent_p.L255L|ADCYAP1R1_uc003tce.1_Silent_p.L255L|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	255	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	31126093	31126093	304	7	G	T	T	47	47	ADCYAP1R1	T	2	2
PDE1C	5137	broad.mit.edu	37	7	31793118	31793118	+	Silent	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31793118G>A	uc003tcm.1	-	18	2479	c.2010C>T	c.(2008-2010)AGC>AGT	p.S670S	PDE1C_uc003tcn.1_Silent_p.S670S|PDE1C_uc003tco.1_Silent_p.S730S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	670					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)															---	---	---	---	capture		Silent	SNP	31793118	31793118	12056	7	G	A	A	34	34	PDE1C	A	2	2
POU6F2	11281	broad.mit.edu	37	7	39125632	39125632	+	Splice_Site	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39125632G>T	uc003thb.1	+	2	232	c.190_splice	c.e2+1	p.G64_splice	POU6F2_uc010kxo.2_Splice_Site_p.G56_splice	NM_007252	NP_009183			POU class 6 homeobox 2 isoform 1						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Splice_Site	SNP	39125632	39125632	12715	7	G	T	T	44	44	POU6F2	T	5	2
CDK13	8621	broad.mit.edu	37	7	40102656	40102656	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40102656A>G	uc003thh.3	+	9	3019	c.2737A>G	c.(2737-2739)ATA>GTA	p.I913V	CDK13_uc003thi.3_Missense_Mutation_p.I913V|CDK13_uc011kbf.1_Missense_Mutation_p.I299V|CDK13_uc003thj.2_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	913	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	40102656	40102656	3258	7	A	G	G	16	16	CDK13	G	4	4
CAMK2B	816	broad.mit.edu	37	7	44286779	44286779	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44286779C>A	uc003tkq.2	-	6	564	c.354G>T	c.(352-354)CAG>CAT	p.Q118H	CAMK2B_uc003tkp.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkx.2_Missense_Mutation_p.Q118H|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tks.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tku.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkv.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkt.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkw.2_Missense_Mutation_p.Q118H|CAMK2B_uc010kyc.2_Missense_Mutation_p.Q118H	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	118	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	44286779	44286779	2717	7	C	A	A	28	28	CAMK2B	A	2	2
MGC26647	219557	broad.mit.edu	37	7	88424128	88424128	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88424128C>A	uc003ujv.2	-	2	311	c.129G>T	c.(127-129)AAG>AAT	p.K43N	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	43											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	88424128	88424128	9940	7	C	A	A	32	32	MGC26647	A	2	2
TAS2R16	50833	broad.mit.edu	37	7	122635075	122635075	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635075T>C	uc003vkl.1	-	1	680	c.614A>G	c.(613-615)AAG>AGG	p.K205R		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	205	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	122635075	122635075	16091	7	T	C	C	56	56	TAS2R16	C	4	4
SSPO	23145	broad.mit.edu	37	7	149502517	149502517	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149502517C>T	uc010lpk.2	+	58	8330	c.8330C>T	c.(8329-8331)CCC>CTC	p.P2777L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2777	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---	capture		Missense_Mutation	SNP	149502517	149502517	15705	7	C	T	T	22	22	SSPO	T	2	2
CSMD1	64478	broad.mit.edu	37	8	3000083	3000083	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3000083G>T	uc011kwk.1	-	41	6538	c.6148C>A	c.(6148-6150)CTC>ATC	p.L2050I	CSMD1_uc011kwj.1_Missense_Mutation_p.L1442I|CSMD1_uc010lrg.2_Missense_Mutation_p.L118I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2050	Extracellular (Potential).|CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	3000083	3000083	4085	8	G	T	T	33	33	CSMD1	T	2	2
RP1L1	94137	broad.mit.edu	37	8	10468360	10468360	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468360G>T	uc003wtc.2	-	4	3477	c.3248C>A	c.(3247-3249)ACG>AAG	p.T1083K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1083					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---	capture		Missense_Mutation	SNP	10468360	10468360	14012	8	G	T	T	40	40	RP1L1	T	1	1
UNC5D	137970	broad.mit.edu	37	8	35648048	35648048	+	Silent	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35648048C>T	uc003xjr.1	+	17	3157	c.2829C>T	c.(2827-2829)GCC>GCT	p.A943A	UNC5D_uc003xjs.1_Silent_p.A938A|UNC5D_uc003xju.1_Silent_p.A519A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	943	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)														---	---	---	---	capture		Silent	SNP	35648048	35648048	17553	8	C	T	T	23	23	UNC5D	T	1	1
CHRNA6	8973	broad.mit.edu	37	8	42611340	42611340	+	Silent	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42611340C>A	uc003xpj.2	-	5	1048	c.1002G>T	c.(1000-1002)ACG>ACT	p.T334T	CHRNA6_uc011lcw.1_Silent_p.T319T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	334	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---	capture		Silent	SNP	42611340	42611340	3521	8	C	A	A	27	27	CHRNA6	A	1	1
ARMC1	55156	broad.mit.edu	37	8	66525497	66525497	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66525497T>C	uc003xvl.2	-	4	682	c.447A>G	c.(445-447)ATA>ATG	p.I149M	ARMC1_uc011leo.1_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	149					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	66525497	66525497	967	8	T	C	C	53	53	ARMC1	C	4	4
PREX2	80243	broad.mit.edu	37	8	68939520	68939520	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68939520C>A	uc003xxv.1	+	5	532	c.505C>A	c.(505-507)CCA>ACA	p.P169T	PREX2_uc003xxu.1_Missense_Mutation_p.P169T|PREX2_uc011lez.1_Missense_Mutation_p.P104T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	169	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---	capture		Missense_Mutation	SNP	68939520	68939520	12920	8	C	A	A	18	18	PREX2	A	2	2
HEY1	23462	broad.mit.edu	37	8	80677875	80677875	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:80677875C>T	uc003ybm.2	-	5	663	c.463G>A	c.(463-465)GTT>ATT	p.V155I	HEY1_uc010lzq.2_Missense_Mutation_p.V36I|HEY1_uc003ybl.2_Missense_Mutation_p.V159I	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	155	Orange.				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)													OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	80677875	80677875	7361	8	C	T	T	18	18	HEY1	T	2	2
RIMS2	9699	broad.mit.edu	37	8	104922413	104922413	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104922413C>A	uc003yls.2	+	3	1251	c.1010C>A	c.(1009-1011)GCA>GAA	p.A337E	RIMS2_uc003ylp.2_Missense_Mutation_p.A559E|RIMS2_uc003ylw.2_Missense_Mutation_p.A367E|RIMS2_uc003ylq.2_Missense_Mutation_p.A367E|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	104922413	104922413	13845	8	C	A	A	25	25	RIMS2	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113563039	113563039	+	Silent	SNP	T	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113563039T>A	uc003ynu.2	-	27	4584	c.4425A>T	c.(4423-4425)CCA>CCT	p.P1475P	CSMD3_uc003yns.2_Silent_p.P747P|CSMD3_uc003ynt.2_Silent_p.P1435P|CSMD3_uc011lhx.1_Silent_p.P1371P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1475	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Silent	SNP	113563039	113563039	4087	8	T	A	A	59	59	CSMD3	A	4	4
TEK	7010	broad.mit.edu	37	9	27168569	27168569	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27168569G>C	uc003zqi.3	+	3	883	c.441G>C	c.(439-441)TTG>TTC	p.L147F	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.L147F|TEK_uc011lno.1_Missense_Mutation_p.L147F|TEK_uc011lnp.1_Missense_Mutation_p.L43F|TEK_uc003zqj.1_Missense_Mutation_p.L124F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	147	Extracellular (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)														---	---	---	---	capture		Missense_Mutation	SNP	27168569	27168569	16278	9	G	C	C	45	45	TEK	C	3	3
VPS13A	23230	broad.mit.edu	37	9	79917868	79917868	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79917868G>T	uc004akr.2	+	34	4110	c.3850G>T	c.(3850-3852)GAT>TAT	p.D1284Y	VPS13A_uc004akp.3_Missense_Mutation_p.D1284Y|VPS13A_uc004akq.3_Missense_Mutation_p.D1284Y|VPS13A_uc004aks.2_Missense_Mutation_p.D1245Y|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1284	TPR 4.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	79917868	79917868	17756	9	G	T	T	41	41	VPS13A	T	2	2
ZCCHC6	79670	broad.mit.edu	37	9	88903620	88903620	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88903620G>A	uc004aoq.2	-	27	4675	c.4460C>T	c.(4459-4461)TCA>TTA	p.S1487L	ZCCHC6_uc010mqe.2_Missense_Mutation_p.S387L|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S1251L|ZCCHC6_uc004aou.2_Missense_Mutation_p.S1487L	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1487					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	88903620	88903620	18180	9	G	A	A	45	45	ZCCHC6	A	2	2
ASTN2	23245	broad.mit.edu	37	9	119976866	119976866	+	Silent	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119976866G>C	uc004bjs.1	-	3	887	c.786C>G	c.(784-786)CCC>CCG	p.P262P	ASTN2_uc004bjr.1_Silent_p.P262P|ASTN2_uc004bjt.1_Silent_p.P262P	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	262	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---	capture		Silent	SNP	119976866	119976866	1084	9	G	C	C	43	43	ASTN2	C	3	3
FRMPD4	9758	broad.mit.edu	37	X	12734276	12734276	+	Silent	SNP	A	G	G			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12734276A>G	uc004cuz.1	+	15	2204	c.1698A>G	c.(1696-1698)CAA>CAG	p.Q566Q	FRMPD4_uc011mij.1_Silent_p.Q558Q	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	566					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---	capture		Silent	SNP	12734276	12734276	6309	23	A	G	G	3	3	FRMPD4	G	4	4
KLHL4	56062	broad.mit.edu	37	X	86919919	86919919	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:86919919G>T	uc004efb.2	+	10	2263	c.2081G>T	c.(2080-2082)AGA>ATA	p.R694I	KLHL4_uc004efa.2_Missense_Mutation_p.R694I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	694	Kelch 6.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	86919919	86919919	8705	23	G	T	T	33	33	KLHL4	T	2	2
XPNPEP2	7512	broad.mit.edu	37	X	128885770	128885770	+	Silent	SNP	T	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128885770T>C	uc004eut.1	+	9	1033	c.789T>C	c.(787-789)TAT>TAC	p.Y263Y		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	263					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0																		---	---	---	---	capture		Silent	SNP	128885770	128885770	18026	23	T	C	C	52	52	XPNPEP2	C	4	4
MAP7D3	79649	broad.mit.edu	37	X	135303015	135303015	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135303015G>T	uc004ezt.2	-	16	2486	c.2395C>A	c.(2395-2397)CGT>AGT	p.R799S	MAP7D3_uc004ezs.2_Missense_Mutation_p.R763S|MAP7D3_uc011mwc.1_Missense_Mutation_p.R781S|MAP7D3_uc010nsa.1_Missense_Mutation_p.R757S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	799						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	135303015	135303015	9652	23	G	T	T	39	39	MAP7D3	T	1	1
F9	2158	broad.mit.edu	37	X	138619203	138619203	+	Silent	SNP	G	C	C			TCGA-39-5021-01	TCGA-39-5021-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138619203G>C	uc004fas.1	+	2	152	c.123G>C	c.(121-123)CTG>CTC	p.L41L	F9_uc004fat.1_Silent_p.L41L	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	41					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)													---	---	---	---	capture		Silent	SNP	138619203	138619203	5548	23	G	C	C	45	45	F9	C	3	3
