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
SCD	6319	broad.mit.edu	37	10	102120670	102120671	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102120670_102120671GG>CT	uc001kqy.2	+	6	1550_1551	c.1060_1061GG>CT	c.(1060-1062)GGA>CTA	p.G354L		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	354	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)														---	---	---	---	capture		Missense_Mutation	DNP	102120670	102120671	14367	10	GG	CT	CT	47	47	SCD	CT	3	3
MUC16	94025	broad.mit.edu	37	19	9059670	9059671	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9059670_9059671GG>TT	uc002mkp.2	-	3	27979_27980	c.27775_27776CC>AA	c.(27775-27777)CCC>AAC	p.P9259N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9261	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		Missense_Mutation	DNP	9059670	9059671	10367	19	GG	TT	TT	43	43	MUC16	TT	2	2
USE1	55850	broad.mit.edu	37	19	17327016	17327017	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17327016_17327017GG>TT	uc002nfo.2	+	4	330_331	c.270_271GG>TT	c.(268-273)CTGGCC>CTTTCC	p.A91S	USE1_uc002nfn.2_Missense_Mutation_p.A91S|USE1_uc010eal.1_Missense_Mutation_p.A91S	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	91	Cytoplasmic (Potential).				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	DNP	17327016	17327017	17593	19	GG	TT	TT	47	47	USE1	TT	2	2
IMP4	92856	broad.mit.edu	37	2	131103469	131103470	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131103469_131103470TC>CT	uc002tra.1	+	6	574_575	c.557_558TC>CT	c.(556-558)CTC>CCT	p.L186P		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	186	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)																	---	---	---	---	capture		Missense_Mutation	DNP	131103469	131103470	8021	2	TC	CT	CT	54	54	IMP4	CT	4	4
TKTL2	84076	broad.mit.edu	37	4	164393214	164393215	+	Missense_Mutation	DNP	CC	GA	GA			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393214_164393215CC>GA	uc003iqp.3	-	1	1833_1834	c.1672_1673GG>TC	c.(1672-1674)GGC>TCC	p.G558S		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	558						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	DNP	164393214	164393215	16465	4	CC	GA	GA	26	26	TKTL2	GA	3	3
PREX2	80243	broad.mit.edu	37	8	69002947	69002948	+	Nonsense_Mutation	DNP	GA	TT	TT			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69002947_69002948GA>TT	uc003xxv.1	+	20	2274_2275	c.2247_2248GA>TT	c.(2245-2250)ACGAAG>ACTTAG	p.K750*	PREX2_uc003xxu.1_Nonsense_Mutation_p.K750*|PREX2_uc011lez.1_Nonsense_Mutation_p.K685*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	750	PDZ 2.				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		Nonsense_Mutation	DNP	69002947	69002948	12920	8	GA	TT	TT	37	37	PREX2	TT	5	1
KRT16	3868	broad.mit.edu	37	17	39768931	39768932	+	Frame_Shift_Ins	INS	-	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39768931_39768932insG	uc002hxg.3	-	1	148_149	c.9_10insC	c.(7-12)ACCTGCfs	p.T3fs	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	3_4	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)																---	---	---	---	capture_indel		Frame_Shift_Ins	INS	39768931	39768932	8768	17	-	G	G	7	7	KRT16	G	5	5
PPM1F	9647	broad.mit.edu	37	22	22288587	22288587	+	Frame_Shift_Del	DEL	G	-	-			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22288587delG	uc002zvp.1	-	4	481	c.367delC	c.(367-369)CAAfs	p.Q123fs	PPM1F_uc011aik.1_Frame_Shift_Del_p.Q19fs|PPM1F_uc002zvq.2_Frame_Shift_Del_p.Q123fs	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	123					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22288587	22288587	12774	22	G	-	-	47	47	PPM1F	-	5	5
DNAJC11	55735	broad.mit.edu	37	1	6705942	6705942	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6705942C>A	uc001aof.2	-	8	907	c.801G>T	c.(799-801)GTG>GTT	p.V267V	DNAJC11_uc010nzt.1_Silent_p.V229V|DNAJC11_uc001aog.2_Silent_p.V267V|DNAJC11_uc010nzu.1_Silent_p.V177V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	267					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	6705942	6705942	4813	1	C	A	A	21	21	DNAJC11	A	2	2
RERE	473	broad.mit.edu	37	1	8416169	8416169	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8416169G>T	uc001ape.2	-	22	5287	c.4477C>A	c.(4477-4479)CCA>ACA	p.P1493T	RERE_uc001apf.2_Missense_Mutation_p.P1493T|RERE_uc001apd.2_Missense_Mutation_p.P939T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1493	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---	capture		Missense_Mutation	SNP	8416169	8416169	13700	1	G	T	T	43	43	RERE	T	2	2
PRAMEF12	390999	broad.mit.edu	37	1	12835767	12835767	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12835767C>A	uc001aui.2	+	2	396	c.369C>A	c.(367-369)TCC>TCA	p.S123S		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	123										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	12835767	12835767	12864	1	C	A	A	22	22	PRAMEF12	A	2	2
PADI4	23569	broad.mit.edu	37	1	17657511	17657511	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17657511G>T	uc001baj.2	+	2	168	c.140G>T	c.(139-141)GGG>GTG	p.G47V	PADI4_uc009vpc.2_Missense_Mutation_p.G47V	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	47					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)													---	---	---	---	capture		Missense_Mutation	SNP	17657511	17657511	11796	1	G	T	T	43	43	PADI4	T	2	2
PHC2	1912	broad.mit.edu	37	1	33799692	33799692	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33799692G>T	uc001bxg.1	-	9	1811	c.1757C>A	c.(1756-1758)CCG>CAG	p.P586Q	PHC2_uc001bxh.1_Missense_Mutation_p.P558Q|PHC2_uc009vuh.1_Missense_Mutation_p.P587Q|PHC2_uc001bxe.1_Missense_Mutation_p.P51Q|PHC2_uc001bxf.1_Intron	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	586	HD1.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	33799692	33799692	12240	1	G	T	T	39	39	PHC2	T	1	1
MACF1	23499	broad.mit.edu	37	1	39927658	39927658	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39927658C>A	uc010oiu.1	+	58	17087	c.16956C>A	c.(16954-16956)CCC>CCA	p.P5652P	MACF1_uc010ois.1_Silent_p.P5150P|MACF1_uc001cde.1_Silent_p.P27P|MACF1_uc001cdf.1_Silent_p.P27P	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7108	EF-hand 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---	capture		Silent	SNP	39927658	39927658	9521	1	C	A	A	21	21	MACF1	A	2	2
PTPRF	5792	broad.mit.edu	37	1	44019297	44019297	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44019297C>A	uc001cjr.2	+	4	566	c.226C>A	c.(226-228)CAG>AAG	p.Q76K	PTPRF_uc001cjq.3_Missense_Mutation_p.Q76K|PTPRF_uc001cjs.2_Missense_Mutation_p.Q76K|PTPRF_uc001cjt.3_Missense_Mutation_p.Q76K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	76	Extracellular (Potential).|Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---	capture		Missense_Mutation	SNP	44019297	44019297	13258	1	C	A	A	21	21	PTPRF	A	2	2
SLC5A9	200010	broad.mit.edu	37	1	48701497	48701497	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48701497T>C	uc001cro.2	+	10	1290	c.1238T>C	c.(1237-1239)GTG>GCG	p.V413A	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.V438A|SLC5A9_uc010omt.1_Missense_Mutation_p.V427A|SLC5A9_uc001crp.2_Missense_Mutation_p.V80A|SLC5A9_uc010omu.1_Missense_Mutation_p.V80A	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	413	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	48701497	48701497	15169	1	T	C	C	59	59	SLC5A9	C	4	4
PRPF38A	84950	broad.mit.edu	37	1	52870481	52870481	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52870481G>T	uc001ctv.3	+	1	263	c.60G>T	c.(58-60)CTG>CTT	p.L20L	ORC1L_uc001ctt.2_5'Flank|ORC1L_uc010oni.1_5'Flank|ORC1L_uc001ctu.2_5'Flank|ORC1L_uc009vzd.2_5'Flank|PRPF38A_uc001ctw.3_5'UTR	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	20					mRNA processing|RNA splicing	spliceosomal complex					0																OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	52870481	52870481	13010	1	G	T	T	47	47	PRPF38A	T	2	2
ZCCHC11	23318	broad.mit.edu	37	1	52954640	52954640	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52954640G>T	uc001ctx.2	-	9	1690	c.1456C>A	c.(1456-1458)CTT>ATT	p.L486I	ZCCHC11_uc001cty.2_Missense_Mutation_p.L486I|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L486I|ZCCHC11_uc009vze.1_Missense_Mutation_p.L486I|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L245I|ZCCHC11_uc001cub.2_Missense_Mutation_p.L486I|ZCCHC11_uc001cuc.2_RNA	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	486					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	52954640	52954640	18168	1	G	T	T	35	35	ZCCHC11	T	2	2
USP24	23358	broad.mit.edu	37	1	55572963	55572963	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55572963G>A	uc001cyg.3	-	37	4231	c.4231C>T	c.(4231-4233)CGC>TGC	p.R1411C		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1571					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---	capture		Missense_Mutation	SNP	55572963	55572963	17618	1	G	A	A	40	40	USP24	A	1	1
PPAP2B	8613	broad.mit.edu	37	1	56990070	56990070	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:56990070C>A	uc001cyj.1	-	4	955	c.454G>T	c.(454-456)GGG>TGG	p.G152W		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	152	Lumenal (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	56990070	56990070	12721	1	C	A	A	24	24	PPAP2B	A	2	2
PPAP2B	8613	broad.mit.edu	37	1	56990134	56990134	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:56990134C>A	uc001cyj.1	-	4	891	c.390G>T	c.(388-390)GTG>GTT	p.V130V		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	130	Helical; (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0																		---	---	---	---	capture		Silent	SNP	56990134	56990134	12721	1	C	A	A	21	21	PPAP2B	A	2	2
SGIP1	84251	broad.mit.edu	37	1	67154904	67154904	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67154904C>A	uc001dcr.2	+	16	1606	c.1389C>A	c.(1387-1389)CCC>CCA	p.P463P	SGIP1_uc010opd.1_Silent_p.P63P|SGIP1_uc001dcs.2_Silent_p.P63P|SGIP1_uc001dct.2_Silent_p.P63P|SGIP1_uc009wat.2_Silent_p.P257P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	463	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	67154904	67154904	14697	1	C	A	A	22	22	SGIP1	A	2	2
SFRS11	9295	broad.mit.edu	37	1	70716381	70716381	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70716381C>A	uc001des.2	+	13	1472	c.1348C>A	c.(1348-1350)CCT>ACT	p.P450T	SFRS11_uc001det.2_Missense_Mutation_p.P449T|SFRS11_uc001dev.2_Missense_Mutation_p.P260T|SFRS11_uc001dew.2_Missense_Mutation_p.P390T	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	450					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		Missense_Mutation	SNP	70716381	70716381	14655	1	C	A	A	22	22	SFRS11	A	2	2
GBP2	2634	broad.mit.edu	37	1	89579960	89579960	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89579960C>T	uc001dmz.1	-	7	1159	c.888G>A	c.(886-888)CTG>CTA	p.L296L	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	296					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)														---	---	---	---	capture		Silent	SNP	89579960	89579960	6540	1	C	T	T	29	29	GBP2	T	2	2
GLMN	11146	broad.mit.edu	37	1	92733508	92733508	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92733508G>T	uc001dor.2	-	11	1175	c.1060C>A	c.(1060-1062)CAG>AAG	p.Q354K	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.Q354K	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	354					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)										Multiple_Glomus_Tumors_(of_the_Skin)_Familial				---	---	---	---	capture		Missense_Mutation	SNP	92733508	92733508	6716	1	G	T	T	47	47	GLMN	T	2	2
SORT1	6272	broad.mit.edu	37	1	109883449	109883449	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109883449G>A	uc001dxm.1	-	10	1210	c.1161C>T	c.(1159-1161)TCC>TCT	p.S387S	SORT1_uc010ovi.1_Silent_p.S250S	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	387	BNR 6.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)														---	---	---	---	capture		Silent	SNP	109883449	109883449	15435	1	G	A	A	47	47	SORT1	A	2	2
ATXN7L2	127002	broad.mit.edu	37	1	110033990	110033990	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110033990C>T	uc001dxr.2	+	10	1820	c.1805C>T	c.(1804-1806)TCG>TTG	p.S602L	ATXN7L2_uc001dxs.2_Missense_Mutation_p.S229L|ATXN7L2_uc001dxt.2_Missense_Mutation_p.S105L|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	602										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	110033990	110033990	1237	1	C	T	T	31	31	ATXN7L2	T	1	1
KCNA3	3738	broad.mit.edu	37	1	111216270	111216270	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111216270C>G	uc001dzv.1	-	1	1386	c.1162G>C	c.(1162-1164)GGG>CGG	p.G388R		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	388						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	111216270	111216270	8309	1	C	G	G	23	23	KCNA3	G	3	3
C1orf88	128344	broad.mit.edu	37	1	111891246	111891246	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111891246C>A	uc001eaw.2	+	4	447	c.367C>A	c.(367-369)CCA>ACA	p.P123T	C1orf88_uc001eax.2_Missense_Mutation_p.P90T|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.P36T	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	hypothetical protein LOC128344	123										ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	111891246	111891246	2141	1	C	A	A	22	22	C1orf88	A	2	2
IGSF3	3321	broad.mit.edu	37	1	117127411	117127411	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117127411G>T	uc001egr.1	-	9	3409	c.2704C>A	c.(2704-2706)CGT>AGT	p.R902S	IGSF3_uc001egq.1_Missense_Mutation_p.R922S|IGSF3_uc001egs.1_Missense_Mutation_p.R575S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	902	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	117127411	117127411	7902	1	G	T	T	39	39	IGSF3	T	1	1
ANKRD35	148741	broad.mit.edu	37	1	145562806	145562806	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145562806C>A	uc001eob.1	+	10	2602	c.2494C>A	c.(2494-2496)CTA>ATA	p.L832I	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.L675I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	832										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145562806	145562806	672	1	C	A	A	24	24	ANKRD35	A	2	2
PLEKHO1	51177	broad.mit.edu	37	1	150131510	150131510	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150131510G>C	uc001ett.2	+	6	1300	c.1022G>C	c.(1021-1023)CGG>CCG	p.R341P	PLEKHO1_uc001etr.2_Missense_Mutation_p.R169P|PLEKHO1_uc001ets.2_Missense_Mutation_p.R158P|PLEKHO1_uc001etu.2_Missense_Mutation_p.R169P	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	341	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	150131510	150131510	12510	1	G	C	C	39	39	PLEKHO1	C	3	3
GOLPH3L	55204	broad.mit.edu	37	1	150634405	150634405	+	Splice_Site	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150634405C>A	uc001evj.2	-	4	533	c.316_splice	c.e4-1	p.V106_splice	GOLPH3L_uc010pci.1_Splice_Site_p.V62_splice	NM_018178	NP_060648			Golgi phosphoprotein 3-like							Golgi cisterna membrane				ovary(1)	1	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	capture		Splice_Site	SNP	150634405	150634405	6842	1	C	A	A	24	24	GOLPH3L	A	5	2
PSMB4	5692	broad.mit.edu	37	1	151372089	151372089	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151372089C>T	uc001eyc.1	+	1	49	c.26C>T	c.(25-27)TCC>TTC	p.S9F	PSMB4_uc010pda.1_Missense_Mutation_p.S9F|PSMB4_uc001eyb.1_Missense_Mutation_p.S9F	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151372089	151372089	13132	1	C	T	T	30	30	PSMB4	T	2	2
TCHHL1	126637	broad.mit.edu	37	1	152057837	152057837	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152057837G>T	uc001ezo.1	-	3	2386	c.2321C>A	c.(2320-2322)CCC>CAC	p.P774H		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	774							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---	capture		Missense_Mutation	SNP	152057837	152057837	16227	1	G	T	T	43	43	TCHHL1	T	2	2
FLG	2312	broad.mit.edu	37	1	152276145	152276145	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152276145G>A	uc001ezu.1	-	3	11253	c.11217C>T	c.(11215-11217)CAC>CAT	p.H3739H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3739	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Silent	SNP	152276145	152276145	6160	1	G	A	A	40	40	FLG	A	1	1
FLG2	388698	broad.mit.edu	37	1	152326835	152326835	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152326835G>C	uc001ezw.3	-	3	3500	c.3427C>G	c.(3427-3429)CAG>GAG	p.Q1143E	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1143	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	152326835	152326835	6161	1	G	C	C	48	48	FLG2	C	3	3
ATP8B2	57198	broad.mit.edu	37	1	154306630	154306630	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154306630G>T	uc001fey.1	+	9	883	c.694G>T	c.(694-696)GGA>TGA	p.G232*	ATP8B2_uc001few.2_Nonsense_Mutation_p.G213*|ATP8B2_uc001fex.2_Nonsense_Mutation_p.G246*	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform b	232	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Nonsense_Mutation	SNP	154306630	154306630	1214	1	G	T	T	39	39	ATP8B2	T	5	1
SSR2	6746	broad.mit.edu	37	1	155981652	155981652	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155981652C>A	uc001fmx.2	-	5	470	c.390G>T	c.(388-390)CAG>CAT	p.Q130H	SSR2_uc001fmv.2_RNA|SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Intron|SSR2_uc010pgw.1_3'UTR	NM_003145	NP_003136	P43308	SSRB_HUMAN	signal sequence receptor, beta precursor	130	Lumenal (Potential).				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)																	---	---	---	---	capture		Missense_Mutation	SNP	155981652	155981652	15707	1	C	A	A	24	24	SSR2	A	2	2
IQGAP3	128239	broad.mit.edu	37	1	156503909	156503909	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156503909C>T	uc001fpf.2	-	30	3840	c.3765G>A	c.(3763-3765)CAG>CAA	p.Q1255Q		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1255					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Silent	SNP	156503909	156503909	8119	1	C	T	T	24	24	IQGAP3	T	2	2
HDGF	3068	broad.mit.edu	37	1	156714809	156714809	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156714809G>T	uc001fpy.3	-	3	616	c.294C>A	c.(292-294)TCC>TCA	p.S98S	HDGF_uc009wsd.2_Silent_p.S66S|HDGF_uc001fpz.3_Silent_p.S91S|HDGF_uc009wse.2_Silent_p.S114S|HDGF_uc010phr.1_Silent_p.S114S|HDGF_uc009wsf.2_Silent_p.S66S|HDGF_uc009wsg.2_Silent_p.S98S	NM_004494	NP_004485	P51858	HDGF_HUMAN	hepatoma-derived growth factor isoform a	98					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			lung(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)														---	---	---	---	capture		Silent	SNP	156714809	156714809	7301	1	G	T	T	39	39	HDGF	T	1	1
FCRL1	115350	broad.mit.edu	37	1	157771327	157771327	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157771327G>T	uc001frg.2	-	6	1040	c.927C>A	c.(925-927)GTC>GTA	p.V309V	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.V309V|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	309	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---	capture		Silent	SNP	157771327	157771327	6031	1	G	T	T	45	45	FCRL1	T	2	2
OR10J1	26476	broad.mit.edu	37	1	159409868	159409868	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159409868G>T	uc010piv.1	+	1	320	c.320G>T	c.(319-321)GGG>GTG	p.G107V	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	107	Extracellular (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---	capture		Missense_Mutation	SNP	159409868	159409868	11316	1	G	T	T	43	43	OR10J1	T	2	2
FCGR3A	2214	broad.mit.edu	37	1	161518412	161518412	+	Nonsense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161518412T>A	uc001gat.3	-	4	255	c.118A>T	c.(118-120)AAG>TAG	p.K40*	FCGR3A_uc001gar.2_Nonsense_Mutation_p.K76*|FCGR3A_uc001gas.2_Nonsense_Mutation_p.K75*|FCGR3A_uc009wuh.2_Nonsense_Mutation_p.K39*|FCGR3A_uc009wui.2_Nonsense_Mutation_p.K40*	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	40	Ig-like C2-type 1.|Extracellular (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---	capture		Nonsense_Mutation	SNP	161518412	161518412	6021	1	T	A	A	62	62	FCGR3A	A	5	4
FCGR3B	2215	broad.mit.edu	37	1	161599730	161599730	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161599730G>T	uc009wul.2	-	3	431	c.157C>A	c.(157-159)CCT>ACT	p.P53T		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	53	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---	capture		Missense_Mutation	SNP	161599730	161599730	6022	1	G	T	T	43	43	FCGR3B	T	2	2
BLZF1	8548	broad.mit.edu	37	1	169356240	169356240	+	Silent	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169356240A>G	uc001gfx.1	+	7	1460	c.1023A>G	c.(1021-1023)CTA>CTG	p.L341L	BLZF1_uc001gfy.2_Silent_p.L341L|BLZF1_uc009wvp.1_Silent_p.*245*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	341					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)																	---	---	---	---	capture		Silent	SNP	169356240	169356240	1478	1	A	G	G	13	13	BLZF1	G	4	4
F5	2153	broad.mit.edu	37	1	169510583	169510583	+	Missense_Mutation	SNP	G	T	T	rs113465470		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169510583G>T	uc001ggg.1	-	13	3890	c.3745C>A	c.(3745-3747)CTT>ATT	p.L1249I		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1249	2-8.|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		Missense_Mutation	SNP	169510583	169510583	5542	1	G	T	T	35	35	F5	T	2	2
ABL2	27	broad.mit.edu	37	1	179078001	179078001	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179078001G>T	uc001gmj.3	-	12	2688	c.2401C>A	c.(2401-2403)CTT>ATT	p.L801I	ABL2_uc010pnf.1_Missense_Mutation_p.L698I|ABL2_uc010png.1_Missense_Mutation_p.L677I|ABL2_uc010pnh.1_Missense_Mutation_p.L780I|ABL2_uc001gmg.3_Missense_Mutation_p.L683I|ABL2_uc001gmi.3_Missense_Mutation_p.L786I|ABL2_uc001gmh.3_Missense_Mutation_p.L765I|ABL2_uc010pne.1_Missense_Mutation_p.L662I	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	801	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)			T	ETV6	AML								---	---	---	---	capture		Missense_Mutation	SNP	179078001	179078001	94	1	G	T	T	35	35	ABL2	T	2	2
C1orf125	126859	broad.mit.edu	37	1	179503957	179503957	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179503957A>T	uc001gmo.2	+	25	3018	c.2891A>T	c.(2890-2892)GAG>GTG	p.E964V	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E890V|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	964	Glu-rich.										0																		---	---	---	---	capture		Missense_Mutation	SNP	179503957	179503957	2060	1	A	T	T	11	11	C1orf125	T	4	4
CEP350	9857	broad.mit.edu	37	1	179966093	179966093	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179966093C>A	uc001gnt.2	+	6	1184	c.801C>A	c.(799-801)TCC>TCA	p.S267S	CEP350_uc001gnr.1_Silent_p.S241S|CEP350_uc009wxl.2_Silent_p.S266S|CEP350_uc001gnu.2_Silent_p.S101S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	267						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---	capture		Silent	SNP	179966093	179966093	3387	1	C	A	A	22	22	CEP350	A	2	2
LAMC2	3918	broad.mit.edu	37	1	183196822	183196822	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183196822C>A	uc001gqa.2	+	10	1772	c.1458C>A	c.(1456-1458)CCC>CCA	p.P486P	LAMC2_uc001gpz.3_Silent_p.P486P|LAMC2_uc010poa.1_Silent_p.P186P	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	486	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	183196822	183196822	8938	1	C	A	A	23	23	LAMC2	A	1	1
PRG4	10216	broad.mit.edu	37	1	186276847	186276847	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186276847C>A	uc001gru.3	+	7	2047	c.1996C>A	c.(1996-1998)CCC>ACC	p.P666T	PRG4_uc001grt.3_Missense_Mutation_p.P625T|PRG4_uc009wyl.2_Missense_Mutation_p.P573T|PRG4_uc009wym.2_Missense_Mutation_p.P532T|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	666	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|38; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	186276847	186276847	12924	1	C	A	A	30	30	PRG4	A	2	2
ATP6V1G3	127124	broad.mit.edu	37	1	198509707	198509707	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198509707G>C	uc001gup.2	-	2	180	c.74C>G	c.(73-75)GCC>GGC	p.A25G	ATP6V1G3_uc009wzd.2_Missense_Mutation_p.A25G|ATP6V1G3_uc001guo.2_Missense_Mutation_p.A25G	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	25	Potential.				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	198509707	198509707	1207	1	G	C	C	42	42	ATP6V1G3	C	3	3
PTPRC	5788	broad.mit.edu	37	1	198703463	198703463	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198703463G>T	uc001gur.1	+	22	2360	c.2180G>T	c.(2179-2181)AGG>ATG	p.R727M	PTPRC_uc001gus.1_Missense_Mutation_p.R679M|PTPRC_uc001gut.1_Missense_Mutation_p.R566M|PTPRC_uc010ppg.1_Missense_Mutation_p.R663M	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	727	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	198703463	198703463	13254	1	G	T	T	35	35	PTPRC	T	2	2
LAX1	54900	broad.mit.edu	37	1	203741202	203741202	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203741202A>G	uc001haa.2	+	4	727	c.317A>G	c.(316-318)CAT>CGT	p.H106R	LAX1_uc010pql.1_Missense_Mutation_p.H90R|LAX1_uc001hab.2_Missense_Mutation_p.H30R	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	106	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---	capture		Missense_Mutation	SNP	203741202	203741202	8971	1	A	G	G	8	8	LAX1	G	4	4
IARS2	55699	broad.mit.edu	37	1	220287687	220287687	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220287687G>T	uc001hmc.2	+	12	1615	c.1511G>T	c.(1510-1512)GGA>GTA	p.G504V		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	504					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---	capture		Missense_Mutation	SNP	220287687	220287687	7774	1	G	T	T	41	41	IARS2	T	2	2
HHIPL2	79802	broad.mit.edu	37	1	222717191	222717191	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222717191G>C	uc001hnh.1	-	2	720	c.662C>G	c.(661-663)TCC>TGC	p.S221C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	221					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)														---	---	---	---	capture		Missense_Mutation	SNP	222717191	222717191	7378	1	G	C	C	41	41	HHIPL2	C	3	3
KIAA1804	84451	broad.mit.edu	37	1	233497839	233497839	+	Missense_Mutation	SNP	T	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233497839T>G	uc001hvt.3	+	5	1613	c.1352T>G	c.(1351-1353)CTG>CGG	p.L451R	KIAA1804_uc001hvs.1_Missense_Mutation_p.L451R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	451					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	233497839	233497839	8570	1	T	G	G	55	55	KIAA1804	G	4	4
RGS7	6000	broad.mit.edu	37	1	240966246	240966246	+	Silent	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240966246T>A	uc001hyv.2	-	16	1647	c.1317A>T	c.(1315-1317)ATA>ATT	p.I439I	RGS7_uc010pyh.1_Silent_p.I413I|RGS7_uc010pyj.1_Silent_p.I355I|RGS7_uc001hyu.2_Silent_p.I439I|RGS7_uc009xgn.1_Silent_p.I386I|RGS7_uc001hyw.2_Silent_p.I439I|RGS7_uc001hyt.2_Silent_p.I271I	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	439	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)															---	---	---	---	capture		Silent	SNP	240966246	240966246	13784	1	T	A	A	61	61	RGS7	A	4	4
RGS7	6000	broad.mit.edu	37	1	241033393	241033393	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241033393G>T	uc001hyv.2	-	7	742	c.412C>A	c.(412-414)CAA>AAA	p.Q138K	RGS7_uc010pyh.1_Missense_Mutation_p.Q112K|RGS7_uc010pyj.1_Missense_Mutation_p.Q54K|RGS7_uc001hyu.2_Missense_Mutation_p.Q138K|RGS7_uc009xgn.1_Missense_Mutation_p.Q85K|RGS7_uc001hyw.2_Missense_Mutation_p.Q138K|RGS7_uc001hyt.2_5'Flank	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)															---	---	---	---	capture		Missense_Mutation	SNP	241033393	241033393	13784	1	G	T	T	46	46	RGS7	T	2	2
SMYD3	64754	broad.mit.edu	37	1	246078937	246078937	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246078937G>T	uc001ibl.2	-	8	803	c.708C>A	c.(706-708)ACC>ACA	p.T236T	SMYD3_uc001ibk.2_Silent_p.T177T|SMYD3_uc001ibi.2_Silent_p.T47T|SMYD3_uc001ibj.2_Silent_p.T47T	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	236	SET.					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	246078937	246078937	15323	1	G	T	T	47	47	SMYD3	T	2	2
NLRP3	114548	broad.mit.edu	37	1	247588746	247588746	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247588746C>A	uc001icr.2	+	5	2139	c.2001C>A	c.(1999-2001)TCC>TCA	p.S667S	NLRP3_uc001ics.2_Silent_p.S667S|NLRP3_uc001icu.2_Silent_p.S667S|NLRP3_uc001icw.2_Silent_p.S667S|NLRP3_uc001icv.2_Silent_p.S667S|NLRP3_uc010pyw.1_Silent_p.S665S|NLRP3_uc001ict.1_Silent_p.S665S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	667					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)															---	---	---	---	capture		Silent	SNP	247588746	247588746	10881	1	C	A	A	24	24	NLRP3	A	2	2
OR14A16	284532	broad.mit.edu	37	1	247978831	247978831	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978831C>A	uc001idm.1	-	1	201	c.201G>T	c.(199-201)TTG>TTT	p.L67F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	247978831	247978831	11351	1	C	A	A	21	21	OR14A16	A	2	2
OR2L13	284521	broad.mit.edu	37	1	248263099	248263099	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248263099T>A	uc001ids.2	+	3	759	c.422T>A	c.(421-423)GTG>GAG	p.V141E		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)															---	---	---	---	capture		Missense_Mutation	SNP	248263099	248263099	11412	1	T	A	A	59	59	OR2L13	A	4	4
OR2M3	127062	broad.mit.edu	37	1	248367107	248367107	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248367107G>T	uc010pzg.1	+	1	738	c.738G>T	c.(736-738)TTG>TTT	p.L246F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---	capture		Missense_Mutation	SNP	248367107	248367107	11417	1	G	T	T	47	47	OR2M3	T	2	2
OR2T1	26696	broad.mit.edu	37	1	248570351	248570351	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248570351G>T	uc010pzm.1	+	1	1056	c.1056G>T	c.(1054-1056)AAG>AAT	p.K352N		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	352	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	248570351	248570351	11422	1	G	T	T	33	33	OR2T1	T	2	2
OR2T27	403239	broad.mit.edu	37	1	248814146	248814146	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248814146G>A	uc010pzo.1	-	1	40	c.40C>T	c.(40-42)CTT>TTT	p.L14F		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	248814146	248814146	11427	1	G	A	A	35	35	OR2T27	A	2	2
FBXO18	84893	broad.mit.edu	37	10	5959446	5959446	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5959446G>A	uc001iis.2	+	11	1947	c.1852G>A	c.(1852-1854)GAG>AAG	p.E618K	FBXO18_uc001iir.2_Missense_Mutation_p.E544K|FBXO18_uc009xig.2_Missense_Mutation_p.E544K|FBXO18_uc001iit.2_Missense_Mutation_p.E669K	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	618					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	5959446	5959446	5968	10	G	A	A	33	33	FBXO18	A	2	2
PFKFB3	5209	broad.mit.edu	37	10	6263484	6263484	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:6263484C>T	uc001ije.2	+	9	1356	c.972C>T	c.(970-972)ATC>ATT	p.I324I	PFKFB3_uc001ijd.2_Silent_p.I304I|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.I338I|PFKFB3_uc001ijf.2_Silent_p.I324I|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	324	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	6263484	6263484	12184	10	C	T	T	31	31	PFKFB3	T	1	1
ITIH5	80760	broad.mit.edu	37	10	7679270	7679270	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7679270G>T	uc001ijq.2	-	5	652	c.573C>A	c.(571-573)ATC>ATA	p.I191I	ITIH5_uc001ijr.1_Silent_p.I191I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	191					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---	capture		Silent	SNP	7679270	7679270	8211	10	G	T	T	41	41	ITIH5	T	2	2
OLAH	55301	broad.mit.edu	37	10	15107717	15107717	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15107717C>T	uc001inu.2	+	6	791	c.537C>T	c.(535-537)ATC>ATT	p.I179I	ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Silent_p.I232I	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 2	179					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0																		---	---	---	---	capture		Silent	SNP	15107717	15107717	11256	10	C	T	T	29	29	OLAH	T	2	2
STAM	8027	broad.mit.edu	37	10	17730044	17730044	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17730044G>T	uc001ipj.1	+	5	532	c.316G>T	c.(316-318)GAA>TAA	p.E106*	STAM_uc010qcf.1_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	106	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	17730044	17730044	15767	10	G	T	T	45	45	STAM	T	5	2
SLC39A12	221074	broad.mit.edu	37	10	18284589	18284589	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18284589G>T	uc001ipo.2	+	10	1811	c.1538G>T	c.(1537-1539)AGC>ATC	p.S513I	SLC39A12_uc001ipn.2_Missense_Mutation_p.S476I|SLC39A12_uc001ipp.2_Missense_Mutation_p.S512I|SLC39A12_uc010qck.1_Missense_Mutation_p.S379I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	513	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	18284589	18284589	15112	10	G	T	T	34	34	SLC39A12	T	2	2
NEBL	10529	broad.mit.edu	37	10	21108409	21108409	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21108409C>A	uc001iqi.2	-	20	2396	c.1999G>T	c.(1999-2001)GTA>TTA	p.V667L	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	667	Nebulin 19.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21108409	21108409	10702	10	C	A	A	18	18	NEBL	A	2	2
ITGB1	3688	broad.mit.edu	37	10	33200922	33200922	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33200922C>A	uc001iws.3	-	12	1736	c.1600G>T	c.(1600-1602)GGA>TGA	p.G534*	ITGB1_uc001iwp.3_Nonsense_Mutation_p.G534*|ITGB1_uc001iwq.3_Nonsense_Mutation_p.G534*|ITGB1_uc001iwr.3_Nonsense_Mutation_p.G534*|ITGB1_uc001iwt.3_Nonsense_Mutation_p.G534*|ITGB1_uc001iwu.1_Nonsense_Mutation_p.G534*	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	534	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)																---	---	---	---	capture		Nonsense_Mutation	SNP	33200922	33200922	8194	10	C	A	A	23	23	ITGB1	A	5	1
SLC25A16	8034	broad.mit.edu	37	10	70253288	70253288	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70253288A>T	uc001joi.2	-	5	913	c.461T>A	c.(460-462)GTT>GAT	p.V154D	SLC25A16_uc010qix.1_Missense_Mutation_p.V20D|SLC25A16_uc010qiy.1_Missense_Mutation_p.V56D|SLC25A16_uc001joj.2_Missense_Mutation_p.V56D	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	154	Helical; Name=3; (Potential).|Solcar 2.				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	70253288	70253288	14975	10	A	T	T	2	2	SLC25A16	T	4	4
C10orf54	64115	broad.mit.edu	37	10	73521605	73521605	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73521605C>T	uc001jsd.2	-	2	402	c.261G>A	c.(259-261)CGG>CGA	p.R87R	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Silent_p.R87R	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	87	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	73521605	73521605	1644	10	C	T	T	26	26	C10orf54	T	2	2
OPN4	94233	broad.mit.edu	37	10	88415918	88415918	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88415918G>T	uc001kdq.2	+	2	378	c.151G>T	c.(151-153)GGG>TGG	p.G51W	OPN4_uc001kdp.2_Missense_Mutation_p.G51W|OPN4_uc010qmk.1_Missense_Mutation_p.G51W	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN	opsin 4 isoform 1	51	Extracellular (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88415918	88415918	11288	10	G	T	T	47	47	OPN4	T	2	2
LCOR	84458	broad.mit.edu	37	10	98715105	98715105	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98715105A>G	uc001kms.1	+	8	1249	c.728A>G	c.(727-729)AAG>AGG	p.K243R	LCOR_uc001kmr.2_Missense_Mutation_p.K243R|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.K243R|LCOR_uc001kmu.1_Missense_Mutation_p.K243R	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	243						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)														---	---	---	---	capture		Missense_Mutation	SNP	98715105	98715105	9013	10	A	G	G	3	3	LCOR	G	4	4
GBF1	8729	broad.mit.edu	37	10	104121582	104121582	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104121582C>A	uc001kux.1	+	14	1836	c.1596C>A	c.(1594-1596)CCC>CCA	p.P532P	GBF1_uc001kuy.1_Silent_p.P532P|GBF1_uc001kuz.1_Silent_p.P533P	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	532					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---	capture		Silent	SNP	104121582	104121582	6537	10	C	A	A	21	21	GBF1	A	2	2
COL17A1	1308	broad.mit.edu	37	10	105836091	105836091	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105836091C>A	uc001kxr.2	-	5	468	c.299G>T	c.(298-300)AGG>ATG	p.R100M	COL17A1_uc010qqv.1_Missense_Mutation_p.R100M|COL17A1_uc009xxp.1_Missense_Mutation_p.R100M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	100	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---	capture		Missense_Mutation	SNP	105836091	105836091	3812	10	C	A	A	24	24	COL17A1	A	2	2
PNLIP	5406	broad.mit.edu	37	10	118321053	118321053	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118321053G>A	uc001lcm.2	+	12	1282	c.1239G>A	c.(1237-1239)CAG>CAA	p.Q413Q		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	413	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)													---	---	---	---	capture		Silent	SNP	118321053	118321053	12575	10	G	A	A	33	33	PNLIP	A	2	2
MUC6	4588	broad.mit.edu	37	11	1018576	1018576	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1018576G>T	uc001lsw.2	-	31	4276	c.4225C>A	c.(4225-4227)CCG>ACG	p.P1409T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1409	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---	capture		Missense_Mutation	SNP	1018576	1018576	10374	11	G	T	T	43	43	MUC6	T	2	2
CARS	833	broad.mit.edu	37	11	3050251	3050251	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3050251G>T	uc001lxh.2	-	8	831	c.757C>A	c.(757-759)CAG>AAG	p.Q253K	CARS_uc001lxe.2_Missense_Mutation_p.Q243K|CARS_uc001lxf.2_Missense_Mutation_p.Q336K|CARS_uc001lxg.2_Missense_Mutation_p.Q253K|CARS_uc010qxo.1_Missense_Mutation_p.Q336K|CARS_uc010qxp.1_Missense_Mutation_p.Q266K|uc001lxi.1_5'Flank	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	253					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)			T	ALK	ALCL								---	---	---	---	capture		Missense_Mutation	SNP	3050251	3050251	2776	11	G	T	T	47	47	CARS	T	2	2
STIM1	6786	broad.mit.edu	37	11	4104506	4104506	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4104506G>T	uc001lyv.2	+	10	1820	c.1252G>T	c.(1252-1254)GAG>TAG	p.E418*	STIM1_uc009yef.2_Nonsense_Mutation_p.E418*|STIM1_uc009yeg.2_Nonsense_Mutation_p.E245*	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	418	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)														---	---	---	---	capture		Nonsense_Mutation	SNP	4104506	4104506	15803	11	G	T	T	37	37	STIM1	T	5	1
OR51B2	79345	broad.mit.edu	37	11	5345277	5345277	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5345277C>A	uc001mao.1	-	1	306	c.251G>T	c.(250-252)TGG>TTG	p.W84L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5345277	5345277	11499	11	C	A	A	21	21	OR51B2	A	2	2
DCHS1	8642	broad.mit.edu	37	11	6655175	6655175	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6655175C>A	uc001mem.1	-	4	2473	c.2063G>T	c.(2062-2064)CGG>CTG	p.R688L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	688	Cadherin 7.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6655175	6655175	4458	11	C	A	A	23	23	DCHS1	A	1	1
NLRP10	338322	broad.mit.edu	37	11	7981752	7981752	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7981752G>A	uc001mfv.1	-	2	1424	c.1407C>T	c.(1405-1407)TTC>TTT	p.F469F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	469	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---	capture		Silent	SNP	7981752	7981752	10875	11	G	A	A	41	41	NLRP10	A	2	2
ANO3	63982	broad.mit.edu	37	11	26619981	26619981	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26619981G>T	uc001mqt.3	+	15	1662	c.1517G>T	c.(1516-1518)TGG>TTG	p.W506L	ANO3_uc010rdr.1_Missense_Mutation_p.W490L|ANO3_uc010rds.1_Missense_Mutation_p.W345L|ANO3_uc010rdt.1_Missense_Mutation_p.W360L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	506	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	26619981	26619981	706	11	G	T	T	47	47	ANO3	T	2	2
DCDC1	341019	broad.mit.edu	37	11	31327936	31327936	+	Splice_Site	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:31327936C>A	uc001msv.2	-	5	637	c.435_splice	c.e5-1	p.R145_splice	DCDC1_uc001msu.1_Splice_Site	NM_181807	NP_861523			doublecortin domain containing 1						intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)																	---	---	---	---	capture		Splice_Site	SNP	31327936	31327936	4455	11	C	A	A	24	24	DCDC1	A	5	2
CD44	960	broad.mit.edu	37	11	35250813	35250813	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35250813C>A	uc001mvu.2	+	18	2596	c.2162C>A	c.(2161-2163)CCA>CAA	p.P721Q	CD44_uc001mvv.2_Missense_Mutation_p.P678Q|CD44_uc001mvw.2_Missense_Mutation_p.P472Q|CD44_uc001mvx.2_Missense_Mutation_p.P340Q|CD44_uc001mvy.2_Silent_p.S133S|CD44_uc001mwc.3_Missense_Mutation_p.P408Q|CD44_uc010rer.1_Missense_Mutation_p.P319Q|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	721	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---	capture		Missense_Mutation	SNP	35250813	35250813	3145	11	C	A	A	21	21	CD44	A	2	2
SYT13	57586	broad.mit.edu	37	11	45274068	45274068	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45274068G>A	uc001myq.2	-	4	876	c.750C>T	c.(748-750)TCC>TCT	p.S250S	SYT13_uc009yku.1_Silent_p.S106S	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	250	Cytoplasmic (Potential).|C2 1.					transport vesicle				ovary(1)	1																OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	45274068	45274068	15990	11	G	A	A	43	43	SYT13	A	2	2
C11orf49	79096	broad.mit.edu	37	11	47073976	47073976	+	Nonsense_Mutation	SNP	C	T	T	rs14051		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47073976C>T	uc001ndp.2	+	3	293	c.187C>T	c.(187-189)CGA>TGA	p.R63*	C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	63											0																		---	---	---	---	capture		Nonsense_Mutation	SNP	47073976	47073976	1684	11	C	T	T	31	31	C11orf49	T	5	1
OR4A15	81328	broad.mit.edu	37	11	55136361	55136361	+	Silent	SNP	A	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55136361A>C	uc010rif.1	+	1	1002	c.1002A>C	c.(1000-1002)GTA>GTC	p.V334V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	55136361	55136361	11446	11	A	C	C	13	13	OR4A15	C	4	4
OR5D14	219436	broad.mit.edu	37	11	55563596	55563596	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563596G>C	uc010rim.1	+	1	565	c.565G>C	c.(565-567)GTG>CTG	p.V189L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---	capture		Missense_Mutation	SNP	55563596	55563596	11565	11	G	C	C	48	48	OR5D14	C	3	3
OR5D18	219438	broad.mit.edu	37	11	55587562	55587562	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587562G>A	uc010rin.1	+	1	457	c.457G>A	c.(457-459)GGA>AGA	p.G153R		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---	capture		Missense_Mutation	SNP	55587562	55587562	11567	11	G	A	A	43	43	OR5D18	A	2	2
OR5R1	219479	broad.mit.edu	37	11	56185013	56185013	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56185013C>A	uc010rji.1	-	1	696	c.696G>T	c.(694-696)CAG>CAT	p.Q232H		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q232H(1)		ovary(2)	2	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56185013	56185013	11590	11	C	A	A	24	24	OR5R1	A	2	2
UBE2L6	9246	broad.mit.edu	37	11	57319960	57319960	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57319960C>A	uc001nkn.1	-	4	429	c.333G>T	c.(331-333)CTG>CTT	p.L111L	UBE2L6_uc001nko.1_Silent_p.L45L	NM_004223	NP_004214	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6 isoform 1	111					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	57319960	57319960	17421	11	C	A	A	21	21	UBE2L6	A	2	2
OR9Q2	219957	broad.mit.edu	37	11	57957992	57957992	+	Silent	SNP	G	T	T	rs116035822	byFrequency;by1000genomes	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57957992G>T	uc010rka.1	+	1	30	c.30G>T	c.(28-30)ACG>ACT	p.T10T		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)																---	---	---	---	capture		Silent	SNP	57957992	57957992	11667	11	G	T	T	39	39	OR9Q2	T	1	1
FAM111A	63901	broad.mit.edu	37	11	58920226	58920226	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58920226G>T	uc010rkp.1	+	5	1312	c.1085G>T	c.(1084-1086)TGG>TTG	p.W362L	FAM111A_uc010rkq.1_Missense_Mutation_p.W362L|FAM111A_uc010rkr.1_Missense_Mutation_p.W362L|FAM111A_uc001nno.2_Missense_Mutation_p.W362L|FAM111A_uc001nnp.2_Missense_Mutation_p.W362L|FAM111A_uc001nnq.2_Missense_Mutation_p.W362L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	362					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)																---	---	---	---	capture		Missense_Mutation	SNP	58920226	58920226	5596	11	G	T	T	47	47	FAM111A	T	2	2
OR4D9	390199	broad.mit.edu	37	11	59282973	59282973	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59282973G>T	uc010rkv.1	+	1	588	c.588G>T	c.(586-588)GAG>GAT	p.E196D		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	59282973	59282973	11466	11	G	T	T	34	34	OR4D9	T	2	2
PYGM	5837	broad.mit.edu	37	11	64527225	64527225	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64527225G>T	uc001oax.3	-	1	963	c.146C>A	c.(145-147)CCA>CAA	p.P49Q	PYGM_uc001oay.3_Missense_Mutation_p.P49Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	49					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	64527225	64527225	13320	11	G	T	T	47	47	PYGM	T	2	2
RELA	5970	broad.mit.edu	37	11	65426227	65426227	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65426227C>A	uc001ofg.2	-	7	766	c.626G>T	c.(625-627)GGG>GTG	p.G209V	RELA_uc001ofh.2_Missense_Mutation_p.G206V|RELA_uc010ron.1_Missense_Mutation_p.G220V|RELA_uc009yqr.2_Missense_Mutation_p.G156V|RELA_uc001ofe.2_Missense_Mutation_p.G209V|RELA_uc001off.2_Missense_Mutation_p.G209V|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	209	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	65426227	65426227	13685	11	C	A	A	22	22	RELA	A	2	2
EIF1AD	84285	broad.mit.edu	37	11	65766854	65766854	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65766854G>T	uc001ogm.1	-	5	605	c.320C>A	c.(319-321)TCT>TAT	p.S107Y	EIF1AD_uc001ogn.1_Missense_Mutation_p.S107Y|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	107						nucleus	translation initiation factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	65766854	65766854	5180	11	G	T	T	33	33	EIF1AD	T	2	2
C11orf80	79703	broad.mit.edu	37	11	66571479	66571479	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66571479G>T	uc001ojf.2	+	9	863	c.856G>T	c.(856-858)GGT>TGT	p.G286C	C11orf80_uc001ojg.2_Missense_Mutation_p.G52C|C11orf80_uc001ojh.2_Missense_Mutation_p.G53C|C11orf80_uc001oji.2_Missense_Mutation_p.G53C|C11orf80_uc010rpk.1_Missense_Mutation_p.G121C	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	131											0																		---	---	---	---	capture		Missense_Mutation	SNP	66571479	66571479	1703	11	G	T	T	47	47	C11orf80	T	2	2
SAPS3	55291	broad.mit.edu	37	11	68363640	68363640	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68363640C>A	uc001onw.2	+	19	2259	c.1992C>A	c.(1990-1992)CCC>CCA	p.P664P	SAPS3_uc001onv.2_Silent_p.P664P|SAPS3_uc001ony.3_Silent_p.P635P|SAPS3_uc001onx.2_Silent_p.P658P|SAPS3_uc009ysh.2_Silent_p.P584P|SAPS3_uc001onu.2_Silent_p.P584P|SAPS3_uc010rqc.1_Silent_p.P432P|SAPS3_uc010rqd.1_Silent_p.P347P|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Silent_p.P114P	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	664					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)															---	---	---	---	capture		Silent	SNP	68363640	68363640	14319	11	C	A	A	21	21	SAPS3	A	2	2
TPCN2	219931	broad.mit.edu	37	11	68840410	68840410	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68840410C>T	uc001oos.2	+	13	1287	c.1171C>T	c.(1171-1173)CTC>TTC	p.L391F	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.L306F|TPCN2_uc010rqg.1_Missense_Mutation_p.L391F|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	391	Cytoplasmic (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68840410	68840410	16940	11	C	T	T	28	28	TPCN2	T	2	2
CHRDL2	25884	broad.mit.edu	37	11	74413877	74413877	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74413877G>T	uc001ovi.2	-	9	1335	c.1082C>A	c.(1081-1083)TCG>TAG	p.S361*	CHRDL2_uc001ovg.2_Nonsense_Mutation_p.S245*|CHRDL2_uc001ovh.2_Nonsense_Mutation_p.S361*|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Nonsense_Mutation_p.S296*			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	361					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)															OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Nonsense_Mutation	SNP	74413877	74413877	3508	11	G	T	T	37	37	CHRDL2	T	5	1
KCTD14	65987	broad.mit.edu	37	11	77728289	77728289	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77728289C>A	uc001oyw.3	-	2	143	c.118G>T	c.(118-120)GGG>TGG	p.G40W		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	40	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)															---	---	---	---	capture		Missense_Mutation	SNP	77728289	77728289	8407	11	C	A	A	23	23	KCTD14	A	1	1
USP35	57558	broad.mit.edu	37	11	77921353	77921353	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77921353A>T	uc009yva.1	+	10	2698	c.2452A>T	c.(2452-2454)ATG>TTG	p.M818L	USP35_uc001oze.2_Missense_Mutation_p.M574L|USP35_uc001ozc.2_Missense_Mutation_p.M386L|USP35_uc010rsp.1_Missense_Mutation_p.M250L|USP35_uc001ozd.2_Missense_Mutation_p.M429L|USP35_uc001ozf.2_Missense_Mutation_p.M549L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	818					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)															---	---	---	---	capture		Missense_Mutation	SNP	77921353	77921353	17630	11	A	T	T	8	8	USP35	T	4	4
FAT3	120114	broad.mit.edu	37	11	92531931	92531931	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92531931C>G	uc001pdj.3	+	9	5769	c.5752C>G	c.(5752-5754)CTG>GTG	p.L1918V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1918	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---	capture		Missense_Mutation	SNP	92531931	92531931	5927	11	C	G	G	20	20	FAT3	G	3	3
FAT3	120114	broad.mit.edu	37	11	92533017	92533017	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92533017G>T	uc001pdj.3	+	9	6855	c.6838G>T	c.(6838-6840)GTA>TTA	p.V2280L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2280	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---	capture		Missense_Mutation	SNP	92533017	92533017	5927	11	G	T	T	48	48	FAT3	T	2	2
CWF19L2	143884	broad.mit.edu	37	11	107309864	107309864	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107309864C>A	uc010rvp.1	-	6	646	c.616G>T	c.(616-618)GGG>TGG	p.G206W	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	206	Potential.						catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)														---	---	---	---	capture		Missense_Mutation	SNP	107309864	107309864	4232	11	C	A	A	21	21	CWF19L2	A	2	2
SCN2B	6327	broad.mit.edu	37	11	118037751	118037751	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118037751C>A	uc001psf.2	-	4	690	c.499G>T	c.(499-501)GGG>TGG	p.G167W		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	167	Helical; (Potential).				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)														---	---	---	---	capture		Missense_Mutation	SNP	118037751	118037751	14399	11	C	A	A	23	23	SCN2B	A	1	1
BCL9L	283149	broad.mit.edu	37	11	118769158	118769158	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118769158G>T	uc001pug.2	-	8	5431	c.4466C>A	c.(4465-4467)CCG>CAG	p.P1489Q	BCL9L_uc009zal.2_Missense_Mutation_p.P1484Q	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1489					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118769158	118769158	1403	11	G	T	T	39	39	BCL9L	T	1	1
SORL1	6653	broad.mit.edu	37	11	121460075	121460075	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121460075G>C	uc001pxx.2	+	29	4134	c.4054G>C	c.(4054-4056)GAT>CAT	p.D1352H	SORL1_uc010rzp.1_Missense_Mutation_p.D198H|SORL1_uc010rzq.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1352	Extracellular (Potential).|LDL-receptor class A 7.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---	capture		Missense_Mutation	SNP	121460075	121460075	15434	11	G	C	C	37	37	SORL1	C	3	3
GRAMD1B	57476	broad.mit.edu	37	11	123476185	123476185	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123476185C>A	uc001pyx.2	+	9	1222	c.893C>A	c.(892-894)TCG>TAG	p.S298*	GRAMD1B_uc001pyw.2_Nonsense_Mutation_p.S305*|GRAMD1B_uc010rzw.1_Nonsense_Mutation_p.S258*|GRAMD1B_uc010rzx.1_Nonsense_Mutation_p.S258*|GRAMD1B_uc009zbe.1_Nonsense_Mutation_p.S294*|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	298						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)														---	---	---	---	capture		Nonsense_Mutation	SNP	123476185	123476185	7024	11	C	A	A	31	31	GRAMD1B	A	5	1
OR8D2	283160	broad.mit.edu	37	11	124189682	124189682	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124189682G>T	uc010sah.1	-	1	412	c.412C>A	c.(412-414)CAC>AAC	p.H138N		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)														---	---	---	---	capture		Missense_Mutation	SNP	124189682	124189682	11643	11	G	T	T	47	47	OR8D2	T	2	2
ARHGAP32	9743	broad.mit.edu	37	11	128839232	128839232	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128839232G>A	uc009zcp.2	-	22	5834	c.5834C>T	c.(5833-5835)TCC>TTC	p.S1945F	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.S904F|ARHGAP32_uc001qez.2_Missense_Mutation_p.S1596F	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1945	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	128839232	128839232	893	11	G	A	A	41	41	ARHGAP32	A	2	2
VPS26B	112936	broad.mit.edu	37	11	134114844	134114844	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134114844C>T	uc001qhe.2	+	5	1190	c.734C>T	c.(733-735)CCG>CTG	p.P245L		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	245					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)												OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	134114844	134114844	17765	11	C	T	T	23	23	VPS26B	T	1	1
VWF	7450	broad.mit.edu	37	12	6058963	6058963	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6058963G>T	uc001qnn.1	-	51	8492	c.8242C>A	c.(8242-8244)CAC>AAC	p.H2748N	VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2748	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---	capture		Missense_Mutation	SNP	6058963	6058963	17818	12	G	T	T	47	47	VWF	T	2	2
LRRC23	10233	broad.mit.edu	37	12	7016571	7016571	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7016571C>A	uc001qrt.3	+	5	975	c.583C>A	c.(583-585)CTG>ATG	p.L195M	LRRC23_uc001qrn.1_Missense_Mutation_p.L195M|LRRC23_uc001qrp.2_Missense_Mutation_p.L195M|LRRC23_uc001qrq.2_Missense_Mutation_p.L195M|LRRC23_uc001qrr.2_Missense_Mutation_p.L144M|LRRC23_uc001qrs.2_Missense_Mutation_p.L144M|LRRC23_uc009zfh.2_Intron	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	195	LRR 5.									ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	7016571	7016571	9352	12	C	A	A	24	24	LRRC23	A	2	2
A2M	2	broad.mit.edu	37	12	9223104	9223104	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9223104G>T	uc001qvk.1	-	32	4287	c.4174C>A	c.(4174-4176)CTG>ATG	p.L1392M	A2M_uc001qvj.1_Missense_Mutation_p.L434M|A2M_uc009zgk.1_Missense_Mutation_p.L1242M	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1392					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		Missense_Mutation	SNP	9223104	9223104	5	12	G	T	T	35	35	A2M	T	2	2
ITPR2	3709	broad.mit.edu	37	12	26780971	26780971	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26780971G>T	uc001rhg.2	-	23	3476	c.3059C>A	c.(3058-3060)CCA>CAA	p.P1020Q		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1020	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---	capture		Missense_Mutation	SNP	26780971	26780971	8225	12	G	T	T	47	47	ITPR2	T	2	2
CAPRIN2	65981	broad.mit.edu	37	12	30881768	30881768	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30881768G>T	uc001rji.1	-	8	2347	c.1596C>A	c.(1594-1596)CCC>CCA	p.P532P	CAPRIN2_uc001rjf.1_Silent_p.P329P|CAPRIN2_uc001rjg.1_Silent_p.P199P|CAPRIN2_uc001rjh.1_Silent_p.P532P|CAPRIN2_uc001rjj.1_Silent_p.P199P|CAPRIN2_uc001rjk.3_Silent_p.P532P|CAPRIN2_uc001rjl.3_Silent_p.P532P|CAPRIN2_uc001rjm.1_Silent_p.P199P|CAPRIN2_uc001rjn.1_Silent_p.P199P	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	532					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---	capture		Silent	SNP	30881768	30881768	2755	12	G	T	T	47	47	CAPRIN2	T	2	2
BICD1	636	broad.mit.edu	37	12	32490544	32490544	+	Silent	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32490544C>G	uc001rku.2	+	7	2445	c.2364C>G	c.(2362-2364)CTC>CTG	p.L788L	BICD1_uc001rkv.2_Silent_p.L788L|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Silent_p.L70L	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	788	Potential.|Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)															---	---	---	---	capture		Silent	SNP	32490544	32490544	1453	12	C	G	G	31	31	BICD1	G	3	3
DNM1L	10059	broad.mit.edu	37	12	32890849	32890849	+	Silent	SNP	C	A	A	rs141224536		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32890849C>A	uc001rld.2	+	15	1808	c.1647C>A	c.(1645-1647)CCC>CCA	p.P549P	DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Silent_p.P615P|DNM1L_uc001rlg.2_Silent_p.P615P|DNM1L_uc001rlh.2_Silent_p.P602P|DNM1L_uc010ski.1_Silent_p.P346P	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	549	Interaction with GSK3B.|B domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---	capture		Silent	SNP	32890849	32890849	4854	12	C	A	A	23	23	DNM1L	A	1	1
SLC2A13	114134	broad.mit.edu	37	12	40422151	40422151	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40422151C>T	uc010skm.1	-	3	928	c.877G>A	c.(877-879)GAT>AAT	p.D293N	SLC2A13_uc001rmf.2_Missense_Mutation_p.D293N	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	293	Cytoplasmic (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)													HNSCC(50;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	40422151	40422151	15039	12	C	T	T	29	29	SLC2A13	T	2	2
PLEKHA9	51054	broad.mit.edu	37	12	45567504	45567504	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45567504G>T	uc001rom.1	-	3	1182	c.645C>A	c.(643-645)CCC>CCA	p.P215P	PLEKHA9_uc009zke.2_Silent_p.P215P	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)														---	---	---	---	capture		Silent	SNP	45567504	45567504	12489	12	G	T	T	47	47	PLEKHA9	T	2	2
TMEM106C	79022	broad.mit.edu	37	12	48360006	48360006	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48360006G>T	uc001rqp.2	+	5	661	c.546G>T	c.(544-546)GAG>GAT	p.E182D	TMEM106C_uc001rqo.2_Intron|TMEM106C_uc001rqr.2_Missense_Mutation_p.E182D|TMEM106C_uc001rqq.2_Intron	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	182						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)														---	---	---	---	capture		Missense_Mutation	SNP	48360006	48360006	16552	12	G	T	T	34	34	TMEM106C	T	2	2
PFKM	5213	broad.mit.edu	37	12	48539474	48539474	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48539474G>T	uc001rrc.2	+	23	2496	c.2326G>T	c.(2326-2328)GGG>TGG	p.G776W	PFKM_uc001rra.1_Missense_Mutation_p.G461W|PFKM_uc001rrb.1_Missense_Mutation_p.G847W|PFKM_uc001rrd.2_Missense_Mutation_p.G461W|PFKM_uc001rre.1_Missense_Mutation_p.G776W|PFKM_uc001rrg.1_Missense_Mutation_p.G745W	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	776					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	48539474	48539474	12187	12	G	T	T	39	39	PFKM	T	1	1
MLL2	8085	broad.mit.edu	37	12	49446494	49446494	+	Splice_Site	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49446494T>A	uc001rta.3	-	9	1113	c.1113_splice	c.e9-1	p.R371_splice		NM_003482	NP_003473			myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture		Splice_Site	SNP	49446494	49446494	10011	12	T	A	A	55	55	MLL2	A	5	4
LMBR1L	55716	broad.mit.edu	37	12	49491879	49491879	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49491879C>A	uc001rth.3	-	16	1592	c.1250G>T	c.(1249-1251)CGC>CTC	p.R417L	LMBR1L_uc001rtg.3_Missense_Mutation_p.R412L|LMBR1L_uc001rti.3_Missense_Mutation_p.R397L	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	417	Extracellular (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1																OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	49491879	49491879	9170	12	C	A	A	27	27	LMBR1L	A	1	1
KRT77	374454	broad.mit.edu	37	12	53091605	53091605	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53091605C>A	uc001saw.2	-	2	648	c.619G>T	c.(619-621)GGA>TGA	p.G207*	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	207	Linker 1.|Rod.					keratin filament	structural molecule activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	53091605	53091605	8805	12	C	A	A	21	21	KRT77	A	5	2
SOAT2	8435	broad.mit.edu	37	12	53516877	53516877	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53516877C>T	uc001sbv.2	+	13	1337	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	417					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	53516877	53516877	15411	12	C	T	T	23	23	SOAT2	T	1	1
CSAD	51380	broad.mit.edu	37	12	53565707	53565707	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53565707G>A	uc001sby.2	-	6	536	c.410C>T	c.(409-411)GCC>GTC	p.A137V	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A164V|CSAD_uc001sbz.2_Missense_Mutation_p.A137V|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.A137V	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	137					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)									Hereditary_Prostate_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	53565707	53565707	4064	12	G	A	A	42	42	CSAD	A	2	2
ITGA5	3678	broad.mit.edu	37	12	54792386	54792386	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54792386G>T	uc001sga.2	-	28	3006	c.2938C>A	c.(2938-2940)CGT>AGT	p.R980S		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	980	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54792386	54792386	8183	12	G	T	T	38	38	ITGA5	T	1	1
LRIG3	121227	broad.mit.edu	37	12	59281635	59281635	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:59281635C>A	uc001sqr.2	-	8	1273	c.1027G>T	c.(1027-1029)GGG>TGG	p.G343W	LRIG3_uc009zqh.2_Missense_Mutation_p.G283W|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	343	LRR 12.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)															---	---	---	---	capture		Missense_Mutation	SNP	59281635	59281635	9319	12	C	A	A	21	21	LRIG3	A	2	2
HELB	92797	broad.mit.edu	37	12	66725230	66725230	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66725230C>T	uc001sti.2	+	12	2995	c.2967C>T	c.(2965-2967)GTC>GTT	p.V989V	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	989					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)														---	---	---	---	capture		Silent	SNP	66725230	66725230	7328	12	C	T	T	29	29	HELB	T	2	2
PTPRB	5787	broad.mit.edu	37	12	70928645	70928645	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70928645C>T	uc001swb.3	-	28	5548	c.5518G>A	c.(5518-5520)GAG>AAG	p.E1840K	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1750K|PTPRB_uc010stp.1_Missense_Mutation_p.E1750K|PTPRB_uc001swc.3_Missense_Mutation_p.E2058K|PTPRB_uc001swa.3_Missense_Mutation_p.E1970K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1840	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)															---	---	---	---	capture		Missense_Mutation	SNP	70928645	70928645	13253	12	C	T	T	29	29	PTPRB	T	2	2
NAV3	89795	broad.mit.edu	37	12	78400703	78400703	+	Nonsense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400703T>A	uc001syp.2	+	8	1558	c.1385T>A	c.(1384-1386)TTG>TAG	p.L462*	NAV3_uc001syo.2_Nonsense_Mutation_p.L462*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	462						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---	capture		Nonsense_Mutation	SNP	78400703	78400703	10581	12	T	A	A	63	63	NAV3	A	5	4
IKBIP	121457	broad.mit.edu	37	12	99007382	99007382	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99007382T>C	uc001tfv.2	-	3	1144	c.1034A>G	c.(1033-1035)CAC>CGC	p.H345R	IKBIP_uc001tfw.2_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	345					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	99007382	99007382	7910	12	T	C	C	59	59	IKBIP	C	4	4
CORO1C	23603	broad.mit.edu	37	12	109042780	109042780	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109042780C>A	uc001tnj.2	-	9	1114	c.1018G>T	c.(1018-1020)GAG>TAG	p.E340*	CORO1C_uc009zva.2_Nonsense_Mutation_p.E393*|CORO1C_uc010sxf.1_Nonsense_Mutation_p.E303*	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	340					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	109042780	109042780	3893	12	C	A	A	29	29	CORO1C	A	5	2
HNF1A	6927	broad.mit.edu	37	12	121434449	121434449	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121434449A>T	uc001tzg.2	+	6	1236	c.1213A>T	c.(1213-1215)ATG>TTG	p.M405L	HNF1A_uc001tze.1_Missense_Mutation_p.M405L|HNF1A_uc001tzf.2_Missense_Mutation_p.M405L|HNF1A_uc010szn.1_Missense_Mutation_p.M405L	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	405					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													Hepatic_Adenoma_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	121434449	121434449	7543	12	A	T	T	8	8	HNF1A	T	4	4
MPHOSPH9	10198	broad.mit.edu	37	12	123648578	123648578	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123648578G>T	uc001uel.2	-	15	2478	c.2371C>A	c.(2371-2373)CAA>AAA	p.Q791K	MPHOSPH9_uc010tal.1_Missense_Mutation_p.Q245K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.Q245K	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	791					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)														---	---	---	---	capture		Missense_Mutation	SNP	123648578	123648578	10120	12	G	T	T	47	47	MPHOSPH9	T	2	2
DNAH10	196385	broad.mit.edu	37	12	124359853	124359853	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124359853G>T	uc001uft.3	+	46	7685	c.7660G>T	c.(7660-7662)GGG>TGG	p.G2554W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2554	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---	capture		Missense_Mutation	SNP	124359853	124359853	4780	12	G	T	T	47	47	DNAH10	T	2	2
SFRS8	6433	broad.mit.edu	37	12	132250791	132250791	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132250791C>A	uc001uja.1	+	13	2220	c.2080C>A	c.(2080-2082)CTC>ATC	p.L694I	SFRS8_uc010tbn.1_Missense_Mutation_p.L694I|SFRS8_uc001ujb.1_Missense_Mutation_p.L487I	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	694					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---	capture		Missense_Mutation	SNP	132250791	132250791	14673	12	C	A	A	24	24	SFRS8	A	2	2
ZMYM5	9205	broad.mit.edu	37	13	20426263	20426263	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20426263C>A	uc010tcn.1	-	3	323	c.58G>T	c.(58-60)GGG>TGG	p.G20W	ZMYM5_uc001umm.1_Translation_Start_Site|ZMYM5_uc001umn.2_Missense_Mutation_p.G20W|ZMYM5_uc001umo.2_Missense_Mutation_p.G20W	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	20						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)														---	---	---	---	capture		Missense_Mutation	SNP	20426263	20426263	18294	13	C	A	A	24	24	ZMYM5	A	2	2
XPO4	64328	broad.mit.edu	37	13	21436984	21436984	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21436984C>A	uc001unq.3	-	3	225	c.189G>T	c.(187-189)GTG>GTT	p.V63V	XPO4_uc010tcr.1_5'UTR	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	63					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---	capture		Silent	SNP	21436984	21436984	18029	13	C	A	A	21	21	XPO4	A	2	2
SPATA13	221178	broad.mit.edu	37	13	24860516	24860516	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24860516C>A	uc001upg.1	+	5	998	c.591C>A	c.(589-591)CCC>CCA	p.P197P	SPATA13_uc001upd.1_Silent_p.P822P|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.P143P|SPATA13_uc010tcz.1_Silent_p.P143P|SPATA13_uc010tda.1_Silent_p.P141P|SPATA13_uc001uph.2_Silent_p.P119P|SPATA13_uc010tdb.1_Silent_p.P119P|SPATA13_uc009zzz.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	197	SH3.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)														---	---	---	---	capture		Silent	SNP	24860516	24860516	15508	13	C	A	A	23	23	SPATA13	A	1	1
PABPC3	5042	broad.mit.edu	37	13	25670378	25670378	+	Nonsense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25670378C>G	uc001upy.2	+	1	103	c.42C>G	c.(40-42)TAC>TAG	p.Y14*		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	14	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---	capture		Nonsense_Mutation	SNP	25670378	25670378	11780	13	C	G	G	19	19	PABPC3	G	5	3
SHISA2	387914	broad.mit.edu	37	13	26620919	26620919	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26620919C>A	uc001uqm.1	-	2	705	c.620G>T	c.(619-621)TGC>TTC	p.C207F		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	207	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	26620919	26620919	14772	13	C	A	A	25	25	SHISA2	A	2	2
FLT1	2321	broad.mit.edu	37	13	28919617	28919617	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28919617G>T	uc001usb.3	-	16	2605	c.2320C>A	c.(2320-2322)CTC>ATC	p.L774I	FLT1_uc001usa.3_5'UTR	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	774	Helical; (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---	capture		Missense_Mutation	SNP	28919617	28919617	6183	13	G	T	T	34	34	FLT1	T	2	2
FRY	10129	broad.mit.edu	37	13	32709039	32709039	+	Splice_Site	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32709039A>T	uc001utx.2	+	9	1382	c.886_splice	c.e9-2	p.E296_splice	FRY_uc010tdw.1_Splice_Site	NM_023037	NP_075463			furry homolog						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---	capture		Splice_Site	SNP	32709039	32709039	6313	13	A	T	T	7	7	FRY	T	5	4
PDS5B	23047	broad.mit.edu	37	13	33344601	33344601	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33344601G>T	uc010abf.2	+	32	4125	c.3967G>T	c.(3967-3969)GCA>TCA	p.A1323S	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1323					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---	capture		Missense_Mutation	SNP	33344601	33344601	12113	13	G	T	T	34	34	PDS5B	T	2	2
CDADC1	81602	broad.mit.edu	37	13	49852571	49852571	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49852571C>A	uc001vcu.2	+	7	1212	c.1136C>A	c.(1135-1137)CCA>CAA	p.P379Q	CDADC1_uc010tgk.1_Missense_Mutation_p.P181Q|CDADC1_uc001vcv.2_RNA	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	379							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)														---	---	---	---	capture		Missense_Mutation	SNP	49852571	49852571	3181	13	C	A	A	21	21	CDADC1	A	2	2
CKAP2	26586	broad.mit.edu	37	13	53035247	53035247	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53035247G>T	uc001vgv.2	+	4	486	c.289G>T	c.(289-291)GGG>TGG	p.G97W	CKAP2_uc001vgt.2_Missense_Mutation_p.G96W|CKAP2_uc001vgu.2_Missense_Mutation_p.G96W|CKAP2_uc010tha.1_Missense_Mutation_p.G48W	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	97					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)														---	---	---	---	capture		Missense_Mutation	SNP	53035247	53035247	3578	13	G	T	T	43	43	CKAP2	T	2	2
LECT1	11061	broad.mit.edu	37	13	53307398	53307398	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53307398C>A	uc001vhf.2	-	3	421	c.310G>T	c.(310-312)GGA>TGA	p.G104*	LECT1_uc001vhg.2_Nonsense_Mutation_p.G104*|LECT1_uc001vhh.2_Nonsense_Mutation_p.G131*	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	104	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)														---	---	---	---	capture		Nonsense_Mutation	SNP	53307398	53307398	9036	13	C	A	A	22	22	LECT1	A	5	2
KLHL1	57626	broad.mit.edu	37	13	70681347	70681347	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:70681347C>G	uc001vip.2	-	1	1279	c.485G>C	c.(484-486)GGA>GCA	p.G162A	KLHL1_uc010thm.1_Missense_Mutation_p.G162A|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	162					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)														---	---	---	---	capture		Missense_Mutation	SNP	70681347	70681347	8677	13	C	G	G	30	30	KLHL1	G	3	3
C13orf34	79866	broad.mit.edu	37	13	73319211	73319211	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73319211G>T	uc001viv.1	+	8	723	c.604G>T	c.(604-606)GGA>TGA	p.G202*	C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Nonsense_Mutation_p.G277*|C13orf34_uc010thr.1_Nonsense_Mutation_p.G132*|C13orf34_uc001viw.1_Nonsense_Mutation_p.G151*	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	202	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)														---	---	---	---	capture		Nonsense_Mutation	SNP	73319211	73319211	1775	13	G	T	T	39	39	C13orf34	T	5	1
CLDN10	9071	broad.mit.edu	37	13	96086185	96086185	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96086185G>A	uc001vmg.2	+	1	333	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	CLDN10_uc010tii.1_Missense_Mutation_p.R33Q	NM_182848	NP_878268	P78369	CLD10_HUMAN	claudin 10 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)															---	---	---	---	capture		Missense_Mutation	SNP	96086185	96086185	3608	13	G	A	A	37	37	CLDN10	A	1	1
RASA3	22821	broad.mit.edu	37	13	114781703	114781703	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114781703C>T	uc001vui.2	-	13	1382	c.1251G>A	c.(1249-1251)TTG>TTA	p.L417L	RASA3_uc010tkk.1_Silent_p.L385L|RASA3_uc001vuj.2_Silent_p.L34L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	417	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---	capture		Silent	SNP	114781703	114781703	13522	13	C	T	T	29	29	RASA3	T	2	2
ZNF828	283489	broad.mit.edu	37	13	115091231	115091231	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115091231A>T	uc010ahb.2	+	3	2243	c.1914A>T	c.(1912-1914)AAA>AAT	p.K638N	ZNF828_uc001vuv.2_Missense_Mutation_p.K638N|ZNF828_uc010tko.1_Missense_Mutation_p.K638N	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	638	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)														---	---	---	---	capture		Missense_Mutation	SNP	115091231	115091231	18780	13	A	T	T	1	1	ZNF828	T	4	4
OR11H12	440153	broad.mit.edu	37	14	19378014	19378014	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19378014A>G	uc010tkp.1	+	1	421	c.421A>G	c.(421-423)ATC>GTC	p.I141V		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	19378014	19378014	11333	14	A	G	G	16	16	OR11H12	G	4	4
MYH7	4625	broad.mit.edu	37	14	23884304	23884304	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23884304C>T	uc001wjx.2	-	37	5565	c.5459G>A	c.(5458-5460)CGG>CAG	p.R1820Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1820	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---	capture		Missense_Mutation	SNP	23884304	23884304	10434	14	C	T	T	23	23	MYH7	T	1	1
NOVA1	4857	broad.mit.edu	37	14	26917955	26917955	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:26917955G>T	uc001wpy.2	-	5	1052	c.734C>A	c.(733-735)CCA>CAA	p.P245Q	NOVA1_uc001wpz.2_Missense_Mutation_p.P221Q|NOVA1_uc001wqa.2_Missense_Mutation_p.P123Q	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	248					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)														---	---	---	---	capture		Missense_Mutation	SNP	26917955	26917955	10958	14	G	T	T	47	47	NOVA1	T	2	2
SEC23A	10484	broad.mit.edu	37	14	39555026	39555026	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39555026C>A	uc001wup.1	-	7	991	c.768G>T	c.(766-768)CAG>CAT	p.Q256H	SEC23A_uc010tqa.1_Missense_Mutation_p.Q118H|SEC23A_uc010tqb.1_Missense_Mutation_p.Q227H|SEC23A_uc010tqc.1_Missense_Mutation_p.Q118H	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	256					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---	capture		Missense_Mutation	SNP	39555026	39555026	14477	14	C	A	A	24	24	SEC23A	A	2	2
ABHD12B	145447	broad.mit.edu	37	14	51368554	51368554	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51368554G>T	uc001wys.2	+	10	803	c.788G>T	c.(787-789)CGG>CTG	p.R263L	ABHD12B_uc001wyq.2_Missense_Mutation_p.R156L|ABHD12B_uc001wyr.2_Missense_Mutation_p.R186L|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	263							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)																	---	---	---	---	capture		Missense_Mutation	SNP	51368554	51368554	78	14	G	T	T	39	39	ABHD12B	T	1	1
NID2	22795	broad.mit.edu	37	14	52520558	52520558	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52520558C>G	uc001wzo.2	-	5	1402	c.1168G>C	c.(1168-1170)GAG>CAG	p.E390Q	NID2_uc010tqs.1_Missense_Mutation_p.E390Q|NID2_uc010tqt.1_Missense_Mutation_p.E390Q|NID2_uc001wzp.2_Missense_Mutation_p.E390Q	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	390						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---	capture		Missense_Mutation	SNP	52520558	52520558	10816	14	C	G	G	32	32	NID2	G	3	3
SAMD4A	23034	broad.mit.edu	37	14	55231189	55231189	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55231189G>T	uc001xbb.2	+	7	1525	c.1524G>T	c.(1522-1524)TTG>TTT	p.L508F	SAMD4A_uc001xbc.2_Missense_Mutation_p.L420F|SAMD4A_uc001xbg.2_Missense_Mutation_p.L100F	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	509					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	55231189	55231189	14301	14	G	T	T	47	47	SAMD4A	T	2	2
SYNE2	23224	broad.mit.edu	37	14	64599130	64599130	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64599130G>T	uc001xgm.2	+	77	14718	c.14488G>T	c.(14488-14490)GGT>TGT	p.G4830C	SYNE2_uc001xgl.2_Missense_Mutation_p.G4830C|SYNE2_uc010apy.2_Missense_Mutation_p.G1215C|SYNE2_uc010apz.1_Missense_Mutation_p.G722C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4830	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---	capture		Missense_Mutation	SNP	64599130	64599130	15967	14	G	T	T	47	47	SYNE2	T	2	2
ZFYVE26	23503	broad.mit.edu	37	14	68220829	68220829	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68220829G>T	uc001xka.2	-	38	7226	c.7087C>A	c.(7087-7089)CTG>ATG	p.L2363M	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.L209M	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2363					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)														---	---	---	---	capture		Missense_Mutation	SNP	68220829	68220829	18258	14	G	T	T	35	35	ZFYVE26	T	2	2
ZFYVE26	23503	broad.mit.edu	37	14	68220848	68220848	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68220848G>T	uc001xka.2	-	38	7207	c.7068C>A	c.(7066-7068)ACC>ACA	p.T2356T	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.T202T	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2356					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)														---	---	---	---	capture		Silent	SNP	68220848	68220848	18258	14	G	T	T	47	47	ZFYVE26	T	2	2
LTBP2	4053	broad.mit.edu	37	14	74978029	74978029	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74978029C>A	uc001xqa.2	-	19	3334	c.2947G>T	c.(2947-2949)GGG>TGG	p.G983W		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	983	EGF-like 7; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	74978029	74978029	9450	14	C	A	A	21	21	LTBP2	A	2	2
TSHR	7253	broad.mit.edu	37	14	81609692	81609692	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81609692G>T	uc001xvd.1	+	10	1446	c.1290G>T	c.(1288-1290)CTG>CTT	p.L430L		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	430	Helical; Name=1; (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						---	---	---	---	capture		Silent	SNP	81609692	81609692	17173	14	G	T	T	47	47	TSHR	T	2	2
FLRT2	23768	broad.mit.edu	37	14	86088817	86088817	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088817G>T	uc001xvr.2	+	2	1726	c.959G>T	c.(958-960)TGG>TTG	p.W320L	FLRT2_uc010atd.2_Missense_Mutation_p.W320L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	320	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---	capture		Missense_Mutation	SNP	86088817	86088817	6181	14	G	T	T	47	47	FLRT2	T	2	2
PTPN21	11099	broad.mit.edu	37	14	88945368	88945368	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88945368T>A	uc001xwv.3	-	13	2738	c.2407A>T	c.(2407-2409)ACG>TCG	p.T803S	PTPN21_uc010twc.1_Missense_Mutation_p.T599S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	803						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	88945368	88945368	13243	14	T	A	A	59	59	PTPN21	A	4	4
KIAA1409	57578	broad.mit.edu	37	14	94008943	94008943	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94008943G>A	uc001ybv.1	+	11	1208	c.1125G>A	c.(1123-1125)CTG>CTA	p.L375L	KIAA1409_uc001ybs.1_Silent_p.L375L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	552						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---	capture		Silent	SNP	94008943	94008943	8539	14	G	A	A	45	45	KIAA1409	A	2	2
MKRN3	7681	broad.mit.edu	37	15	23811260	23811260	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23811260G>T	uc001ywh.3	+	1	807	c.331G>T	c.(331-333)GAG>TAG	p.E111*	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.E111*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	111	C3H1-type 1.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)														---	---	---	---	capture		Nonsense_Mutation	SNP	23811260	23811260	9998	15	G	T	T	41	41	MKRN3	T	5	2
MEIS2	4212	broad.mit.edu	37	15	37184508	37184508	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:37184508G>T	uc001zjr.2	-	12	2337	c.1300C>A	c.(1300-1302)CAC>AAC	p.H434N	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.H414N|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Missense_Mutation_p.H427N|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.H427N|MEIS2_uc001zjj.2_Missense_Mutation_p.H130N|MEIS2_uc001zjk.2_Missense_Mutation_p.H123N	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	434					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)														---	---	---	---	capture		Missense_Mutation	SNP	37184508	37184508	9857	15	G	T	T	47	47	MEIS2	T	2	2
TTBK2	146057	broad.mit.edu	37	15	43122240	43122240	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43122240G>T	uc001zqo.2	-	5	767	c.328C>A	c.(328-330)CGA>AGA	p.R110R	TTBK2_uc010bcy.2_Silent_p.R41R|TTBK2_uc001zqp.2_Silent_p.R110R|TTBK2_uc010bcz.1_Silent_p.R110R	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	110	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)														---	---	---	---	capture		Silent	SNP	43122240	43122240	17231	15	G	T	T	39	39	TTBK2	T	1	1
TGM5	9333	broad.mit.edu	37	15	43527770	43527770	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43527770C>A	uc001zrd.1	-	10	1619	c.1611G>T	c.(1609-1611)AAG>AAT	p.K537N	TGM5_uc001zrc.1_Missense_Mutation_p.K194N|TGM5_uc001zre.1_Missense_Mutation_p.K455N	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	537					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	43527770	43527770	16361	15	C	A	A	24	24	TGM5	A	2	2
TP53BP1	7158	broad.mit.edu	37	15	43707872	43707872	+	Nonsense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43707872G>C	uc001zrs.2	-	23	5142	c.4994C>G	c.(4993-4995)TCA>TGA	p.S1665*	TP53BP1_uc010udp.1_Nonsense_Mutation_p.S1665*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.S1670*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.S1670*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.S1670*|TP53BP1_uc001zrp.2_Nonsense_Mutation_p.S82*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1665					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Nonsense_Mutation	SNP	43707872	43707872	16925	15	G	C	C	45	45	TP53BP1	C	5	3
DUOX1	53905	broad.mit.edu	37	15	45431753	45431753	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45431753C>A	uc001zus.1	+	13	1691	c.1345C>A	c.(1345-1347)CGC>AGC	p.R449S	DUOX1_uc001zut.1_Missense_Mutation_p.R449S|DUOX1_uc010bee.1_Intron	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	449	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)														---	---	---	---	capture		Missense_Mutation	SNP	45431753	45431753	4985	15	C	A	A	23	23	DUOX1	A	1	1
GLDN	342035	broad.mit.edu	37	15	51676070	51676070	+	Silent	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51676070T>C	uc002aba.2	+	4	691	c.522T>C	c.(520-522)AAT>AAC	p.N174N	GLDN_uc010bez.1_Missense_Mutation_p.M157T|GLDN_uc002abb.2_Silent_p.N50N	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	174	Extracellular (Potential).|Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---	capture		Silent	SNP	51676070	51676070	6702	15	T	C	C	51	51	GLDN	C	4	4
WDR72	256764	broad.mit.edu	37	15	53889379	53889379	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53889379G>T	uc002acj.2	-	18	3087	c.3045C>A	c.(3043-3045)TCC>TCA	p.S1015S		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1015										lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---	capture		Silent	SNP	53889379	53889379	17895	15	G	T	T	47	47	WDR72	T	2	2
PIF1	80119	broad.mit.edu	37	15	65110492	65110492	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65110492G>T	uc002ant.2	-	10	1558	c.1492C>A	c.(1492-1494)CGA>AGA	p.R498R	PIF1_uc002anr.2_Silent_p.R46R|PIF1_uc002ans.2_Silent_p.R189R|PIF1_uc010uiq.1_Silent_p.R498R	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	498	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0																		---	---	---	---	capture		Silent	SNP	65110492	65110492	12307	15	G	T	T	39	39	PIF1	T	1	1
SLC24A1	9187	broad.mit.edu	37	15	65918169	65918169	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65918169G>T	uc010ujf.1	+	2	2038	c.1751G>T	c.(1750-1752)TGG>TTG	p.W584L	SLC24A1_uc010ujd.1_Missense_Mutation_p.W584L|SLC24A1_uc010uje.1_Missense_Mutation_p.W584L|SLC24A1_uc010ujg.1_Missense_Mutation_p.W584L|SLC24A1_uc010ujh.1_Missense_Mutation_p.W584L	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	584	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	65918169	65918169	14962	15	G	T	T	47	47	SLC24A1	T	2	2
NOX5	79400	broad.mit.edu	37	15	69339822	69339822	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69339822G>T	uc002ars.1	+	12	1782	c.1762G>T	c.(1762-1764)GGG>TGG	p.G588W	NOX5_uc002arp.1_Missense_Mutation_p.G570W|NOX5_uc002arq.1_Missense_Mutation_p.G542W|NOX5_uc010bid.1_Missense_Mutation_p.G553W|NOX5_uc002arr.1_Missense_Mutation_p.G560W|NOX5_uc010bie.1_Missense_Mutation_p.G388W|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	588	Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	69339822	69339822	10963	15	G	T	T	39	39	NOX5	T	1	1
LRRC49	54839	broad.mit.edu	37	15	71302258	71302258	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71302258A>G	uc002asw.2	+	13	1767	c.1520A>G	c.(1519-1521)AAT>AGT	p.N507S	LRRC49_uc002asu.2_Missense_Mutation_p.N497S|LRRC49_uc002asx.2_Missense_Mutation_p.N463S|LRRC49_uc010ukf.1_Missense_Mutation_p.N512S|LRRC49_uc002asy.2_Missense_Mutation_p.N213S|LRRC49_uc002asz.2_Missense_Mutation_p.N479S	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	507						cytoplasm|microtubule				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	71302258	71302258	9381	15	A	G	G	4	4	LRRC49	G	4	4
CCDC33	80125	broad.mit.edu	37	15	74625063	74625063	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74625063G>T	uc002axo.2	+	16	2209	c.1815G>T	c.(1813-1815)ATG>ATT	p.M605I	CCDC33_uc002axp.2_Missense_Mutation_p.M427I|CCDC33_uc002axq.2_Missense_Mutation_p.M198I|CCDC33_uc002axr.2_Missense_Mutation_p.M198I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	808							protein binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	74625063	74625063	2928	15	G	T	T	47	47	CCDC33	T	2	2
SGK269	79834	broad.mit.edu	37	15	77471444	77471444	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77471444T>A	uc002bcm.2	-	3	3133	c.2825A>T	c.(2824-2826)GAC>GTC	p.D942V	SGK269_uc002bcn.2_Missense_Mutation_p.D942V	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	942					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	77471444	77471444	14702	15	T	A	A	58	58	SGK269	A	4	4
FSD2	123722	broad.mit.edu	37	15	83437666	83437666	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83437666G>T	uc002bjd.2	-	9	1686	c.1519C>A	c.(1519-1521)CAG>AAG	p.Q507K	FSD2_uc010uol.1_Missense_Mutation_p.Q462K|FSD2_uc010uom.1_Missense_Mutation_p.Q462K	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	507	Fibronectin type-III 2.									central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	83437666	83437666	6322	15	G	T	T	47	47	FSD2	T	2	2
ZNF592	9640	broad.mit.edu	37	15	85342066	85342066	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85342066G>T	uc002bld.2	+	8	3320	c.2984G>T	c.(2983-2985)CGG>CTG	p.R995L	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	995	C2H2-type 9.				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Missense_Mutation	SNP	85342066	85342066	18617	15	G	T	T	39	39	ZNF592	T	1	1
AKAP13	11214	broad.mit.edu	37	15	86122678	86122678	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86122678C>T	uc002blv.1	+	7	1549	c.1379C>T	c.(1378-1380)TCC>TTC	p.S460F	AKAP13_uc002blt.1_Missense_Mutation_p.S460F|AKAP13_uc002blu.1_Missense_Mutation_p.S460F	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	460					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	86122678	86122678	452	15	C	T	T	30	30	AKAP13	T	2	2
AKAP13	11214	broad.mit.edu	37	15	86124952	86124952	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86124952C>T	uc002blv.1	+	7	3823	c.3653C>T	c.(3652-3654)GCC>GTC	p.A1218V	AKAP13_uc002blt.1_Missense_Mutation_p.A1218V|AKAP13_uc002blu.1_Missense_Mutation_p.A1218V|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1218					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	86124952	86124952	452	15	C	T	T	26	26	AKAP13	T	2	2
AKAP13	11214	broad.mit.edu	37	15	86125189	86125189	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86125189C>T	uc002blv.1	+	7	4060	c.3890C>T	c.(3889-3891)ACA>ATA	p.T1297I	AKAP13_uc002blt.1_Missense_Mutation_p.T1297I|AKAP13_uc002blu.1_Missense_Mutation_p.T1297I|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1297					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	86125189	86125189	452	15	C	T	T	17	17	AKAP13	T	2	2
SYNM	23336	broad.mit.edu	37	15	99672340	99672340	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99672340C>A	uc002bup.2	+	6	3895	c.3775C>A	c.(3775-3777)CAG>AAG	p.Q1259K	SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	1259	Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	99672340	99672340	15976	15	C	A	A	21	21	SYNM	A	2	2
RHOT2	89941	broad.mit.edu	37	16	723528	723528	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:723528G>T	uc002cip.2	+	19	1846	c.1779G>T	c.(1777-1779)GGG>GGT	p.G593G	RHOT2_uc002ciq.2_Silent_p.G486G|RHOT2_uc010bqy.2_Silent_p.G372G|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	593	Miro 2.|Helical; Anchor for type IV membrane protein; (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)																---	---	---	---	capture		Silent	SNP	723528	723528	13819	16	G	T	T	42	42	RHOT2	T	2	2
CLCN7	1186	broad.mit.edu	37	16	1507715	1507715	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1507715C>A	uc002clv.2	-	8	828	c.718G>T	c.(718-720)GGG>TGG	p.G240W	CLCN7_uc002clw.2_Missense_Mutation_p.G216W	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	240	Helical; (By similarity).		G -> R (in OPTB4).			integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)																---	---	---	---	capture		Missense_Mutation	SNP	1507715	1507715	3604	16	C	A	A	23	23	CLCN7	A	1	1
HCFC1R1	54985	broad.mit.edu	37	16	3073520	3073520	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3073520C>A	uc002csx.1	-	3	240	c.107G>T	c.(106-108)CGA>CTA	p.R36L	HCFC1R1_uc002csy.1_Missense_Mutation_p.R36L|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependant)	36						cytoplasm|nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	3073520	3073520	7274	16	C	A	A	31	31	HCFC1R1	A	1	1
ZNF213	7760	broad.mit.edu	37	16	3188520	3188520	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3188520C>A	uc010uws.1	+	3	948	c.501C>A	c.(499-501)CCC>CCA	p.P167P	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.P167P|ZNF213_uc010uwt.1_Silent_p.P167P	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	3188520	3188520	18360	16	C	A	A	22	22	ZNF213	A	2	2
BTBD12	84464	broad.mit.edu	37	16	3640512	3640512	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3640512C>A	uc002cvp.2	-	12	3754	c.3127G>T	c.(3127-3129)GGG>TGG	p.G1043W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1043	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	3640512	3640512	1572	16	C	A	A	23	23	BTBD12	A	1	1
GLYR1	84656	broad.mit.edu	37	16	4871572	4871572	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4871572C>T	uc002cxx.3	-	8	745	c.708G>A	c.(706-708)ACG>ACA	p.T236T	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Intron|GLYR1_uc002cya.2_Silent_p.T236T|GLYR1_uc010uxv.1_Silent_p.T155T	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	236					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0																		---	---	---	---	capture		Silent	SNP	4871572	4871572	6752	16	C	T	T	31	31	GLYR1	T	1	1
FAM86A	196483	broad.mit.edu	37	16	5139191	5139191	+	Missense_Mutation	SNP	C	A	A	rs149513493		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5139191C>A	uc002cyo.2	-	7	858	c.809G>T	c.(808-810)CGG>CTG	p.R270L	FAM86A_uc002cyp.2_Missense_Mutation_p.R236L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	hypothetical protein LOC196483 isoform 1	270											0																		---	---	---	---	capture		Missense_Mutation	SNP	5139191	5139191	5869	16	C	A	A	23	23	FAM86A	A	1	1
ABAT	18	broad.mit.edu	37	16	8868797	8868797	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8868797G>T	uc002czc.3	+	13	1171	c.1005G>T	c.(1003-1005)ACG>ACT	p.T335T	ABAT_uc002czd.3_Silent_p.T335T|ABAT_uc010buh.2_Silent_p.T277T|ABAT_uc010bui.2_Silent_p.T335T	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	335					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)													---	---	---	---	capture		Silent	SNP	8868797	8868797	28	16	G	T	T	39	39	ABAT	T	1	1
PDILT	204474	broad.mit.edu	37	16	20371965	20371965	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20371965C>A	uc002dhc.1	-	11	1654	c.1431G>T	c.(1429-1431)AAG>AAT	p.K477N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	477					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20371965	20371965	12095	16	C	A	A	24	24	PDILT	A	2	2
ACSM2B	348158	broad.mit.edu	37	16	20548648	20548648	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20548648C>A	uc002dhj.3	-	15	1876	c.1666G>T	c.(1666-1668)GGG>TGG	p.G556W	ACSM2B_uc002dhk.3_Missense_Mutation_p.G556W	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	20548648	20548648	185	16	C	A	A	24	24	ACSM2B	A	2	2
EEF2K	29904	broad.mit.edu	37	16	22256031	22256031	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22256031C>A	uc002dki.2	+	3	812	c.327C>A	c.(325-327)ACC>ACA	p.T109T	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	109					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)														---	---	---	---	capture		Silent	SNP	22256031	22256031	5117	16	C	A	A	23	23	EEF2K	A	1	1
PALB2	79728	broad.mit.edu	37	16	23614791	23614791	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23614791G>T	uc002dlx.1	-	13	3750	c.3550C>A	c.(3550-3552)CAC>AAC	p.H1184N		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1184	Interaction with RAD51 and BRCA2.|WD 7.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)				F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	23614791	23614791	11822	16	G	T	T	47	47	PALB2	T	2	2
PALB2	79728	broad.mit.edu	37	16	23641289	23641289	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23641289G>T	uc002dlx.1	-	5	2386	c.2186C>A	c.(2185-2187)CCC>CAC	p.P729H		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	729					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)				F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	23641289	23641289	11822	16	G	T	T	43	43	PALB2	T	2	2
TAOK2	9344	broad.mit.edu	37	16	29997772	29997772	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29997772G>T	uc002dva.1	+	16	2962	c.2179G>T	c.(2179-2181)GAG>TAG	p.E727*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Nonsense_Mutation_p.E727*|TAOK2_uc002dvc.1_Nonsense_Mutation_p.E727*|TAOK2_uc010bzm.1_Nonsense_Mutation_p.E734*|TAOK2_uc002dvd.1_Nonsense_Mutation_p.E554*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	727					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	29997772	29997772	16069	16	G	T	T	33	33	TAOK2	T	5	2
HIRIP3	8479	broad.mit.edu	37	16	30005654	30005654	+	Missense_Mutation	SNP	C	A	A	rs75636770	by1000genomes	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30005654C>A	uc002dve.2	-	4	1273	c.812G>T	c.(811-813)AGG>ATG	p.R271M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	271					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30005654	30005654	7406	16	C	A	A	24	24	HIRIP3	A	2	2
STX1B	112755	broad.mit.edu	37	16	31008036	31008036	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31008036C>G	uc010cad.2	-	7	617	c.505G>C	c.(505-507)GAG>CAG	p.E169Q	STX1B_uc010vfd.1_Missense_Mutation_p.E169Q	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	169	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31008036	31008036	15864	16	C	G	G	30	30	STX1B	G	3	3
ITGAD	3681	broad.mit.edu	37	16	31418950	31418950	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31418950C>A	uc002ebv.1	+	8	868	c.819C>A	c.(817-819)CCC>CCA	p.P273P	ITGAD_uc010vfl.1_Silent_p.P273P|ITGAD_uc010cap.1_Silent_p.P273P|ITGAD_uc002ebw.1_Silent_p.P84P	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	273	Extracellular (Potential).|VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	31418950	31418950	8188	16	C	A	A	22	22	ITGAD	A	2	2
ZNF423	23090	broad.mit.edu	37	16	49671724	49671724	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49671724G>T	uc002efs.2	-	5	1637	c.1339C>A	c.(1339-1341)CTG>ATG	p.L447M	ZNF423_uc010vgn.1_Missense_Mutation_p.L330M	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	447	C2H2-type 10.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---	capture		Missense_Mutation	SNP	49671724	49671724	18491	16	G	T	T	35	35	ZNF423	T	2	2
CHD9	80205	broad.mit.edu	37	16	53272410	53272410	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53272410G>T	uc002ehb.2	+	11	2953	c.2789G>T	c.(2788-2790)TGG>TTG	p.W930L	CHD9_uc002egy.2_Missense_Mutation_p.W930L|CHD9_uc002eha.1_Missense_Mutation_p.W930L|CHD9_uc002ehc.2_Missense_Mutation_p.W930L|CHD9_uc002ehf.2_Missense_Mutation_p.W44L|CHD9_uc002ehd.2_Missense_Mutation_p.W456L|CHD9_uc002ehe.1_Missense_Mutation_p.W44L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	930	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)																---	---	---	---	capture		Missense_Mutation	SNP	53272410	53272410	3466	16	G	T	T	47	47	CHD9	T	2	2
SLC9A5	6553	broad.mit.edu	37	16	67286512	67286512	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67286512G>A	uc002esm.2	+	2	318	c.255G>A	c.(253-255)CTG>CTA	p.L85L	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	85	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)														---	---	---	---	capture		Silent	SNP	67286512	67286512	15214	16	G	A	A	47	47	SLC9A5	A	2	2
FAM65A	79567	broad.mit.edu	37	16	67575630	67575630	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575630C>A	uc010vjp.1	+	12	1181	c.1085C>A	c.(1084-1086)TCC>TAC	p.S362Y	FAM65A_uc010cei.1_Missense_Mutation_p.S184Y|FAM65A_uc002eth.2_Missense_Mutation_p.S342Y|FAM65A_uc010cej.2_Missense_Mutation_p.S345Y|FAM65A_uc002eti.1_Missense_Mutation_p.S305Y|FAM65A_uc010vjq.1_Missense_Mutation_p.S356Y|FAM65A_uc002etj.1_Missense_Mutation_p.S341Y|FAM65A_uc002etk.2_Missense_Mutation_p.S341Y	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	346						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	67575630	67575630	5822	16	C	A	A	30	30	FAM65A	A	2	2
HYDIN	54768	broad.mit.edu	37	16	70954858	70954858	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70954858C>A	uc002ezr.2	-	46	7546	c.7418G>T	c.(7417-7419)TGG>TTG	p.W2473L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2474										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---	capture		Missense_Mutation	SNP	70954858	70954858	7767	16	C	A	A	21	21	HYDIN	A	2	2
ADAT1	23536	broad.mit.edu	37	16	75637051	75637051	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75637051C>A	uc002feo.1	-	10	1410	c.1308G>T	c.(1306-1308)GTG>GTT	p.V436V	ADAT1_uc002fep.1_Silent_p.V287V	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	436	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	75637051	75637051	285	16	C	A	A	21	21	ADAT1	A	2	2
CDH13	1012	broad.mit.edu	37	16	83378554	83378554	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83378554C>A	uc002fgx.2	+	6	844	c.724C>A	c.(724-726)CGA>AGA	p.R242R	CDH13_uc010vns.1_Silent_p.R289R|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.R203R	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	242	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)														---	---	---	---	capture		Silent	SNP	83378554	83378554	3228	16	C	A	A	23	23	CDH13	A	1	1
DPEP1	1800	broad.mit.edu	37	16	89702987	89702987	+	Silent	SNP	C	T	T	rs150009384	byFrequency	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89702987C>T	uc010cin.2	+	5	620	c.417C>T	c.(415-417)GGC>GGT	p.G139G	DPEP1_uc002fnr.3_Silent_p.G139G|DPEP1_uc002fns.3_Silent_p.G139G	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	139					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)													---	---	---	---	capture		Silent	SNP	89702987	89702987	4897	16	C	T	T	27	27	DPEP1	T	1	1
ZMYND15	84225	broad.mit.edu	37	17	4645745	4645745	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4645745G>T	uc002fyt.2	+	5	1142	c.1103G>T	c.(1102-1104)CGG>CTG	p.R368L	CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.R368L|ZMYND15_uc002fyu.2_Missense_Mutation_p.R368L	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	368							zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	4645745	4645745	18299	17	G	T	T	39	39	ZMYND15	T	1	1
DNAH2	146754	broad.mit.edu	37	17	7733675	7733675	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7733675C>A	uc002giu.1	+	77	11925	c.11911C>A	c.(11911-11913)CGC>AGC	p.R3971S	DNAH2_uc010cnm.1_Missense_Mutation_p.R909S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3971	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---	capture		Missense_Mutation	SNP	7733675	7733675	4785	17	C	A	A	23	23	DNAH2	A	1	1
ARHGEF15	22899	broad.mit.edu	37	17	8218837	8218837	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8218837C>A	uc002glc.2	+	7	1487	c.1366C>A	c.(1366-1368)CGT>AGT	p.R456S	ARHGEF15_uc002gld.2_Missense_Mutation_p.R456S|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R345S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	456	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	8218837	8218837	912	17	C	A	A	23	23	ARHGEF15	A	1	1
SUPT6H	6830	broad.mit.edu	37	17	27026896	27026896	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27026896C>A	uc002hby.2	+	33	4636	c.4546C>A	c.(4546-4548)CAG>AAG	p.Q1516K	SUPT6H_uc010crt.2_Missense_Mutation_p.Q1516K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1516					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---	capture		Missense_Mutation	SNP	27026896	27026896	15920	17	C	A	A	21	21	SUPT6H	A	2	2
SSH2	85464	broad.mit.edu	37	17	27958209	27958209	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27958209G>T	uc002heo.1	-	15	3922	c.3922C>A	c.(3922-3924)CTA>ATA	p.L1308I	SSH2_uc010wbh.1_Missense_Mutation_p.L1335I	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1308					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	27958209	27958209	15701	17	G	T	T	35	35	SSH2	T	2	2
KRT24	192666	broad.mit.edu	37	17	38856605	38856605	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38856605C>A	uc002hvd.2	-	4	943	c.886G>T	c.(886-888)GGG>TGG	p.G296W		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	296	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---	capture		Missense_Mutation	SNP	38856605	38856605	8776	17	C	A	A	24	24	KRT24	A	2	2
KRTAP1-3	81850	broad.mit.edu	37	17	39190915	39190915	+	Silent	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39190915A>G	uc002hvv.2	-	1	193	c.159T>C	c.(157-159)AGT>AGC	p.S53S		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	63			Missing (in allele KAP1.9).	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1).		extracellular region|keratin filament	structural constituent of epidermis				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)															---	---	---	---	capture		Silent	SNP	39190915	39190915	8818	17	A	G	G	6	6	KRTAP1-3	G	4	4
KRT35	3886	broad.mit.edu	37	17	39635736	39635736	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39635736G>T	uc002hws.2	-	3	617	c.574C>A	c.(574-576)CTG>ATG	p.L192M		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	192	Rod.|Coil 1B.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)																---	---	---	---	capture		Missense_Mutation	SNP	39635736	39635736	8787	17	G	T	T	35	35	KRT35	T	2	2
CNP	1267	broad.mit.edu	37	17	40125782	40125782	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40125782G>T	uc002hyl.1	+	4	1250	c.1106G>T	c.(1105-1107)CGG>CTG	p.R369L	CNP_uc010wfz.1_Missense_Mutation_p.R246L|CNP_uc002hym.1_Missense_Mutation_p.R349L|CNP_uc010wga.1_Missense_Mutation_p.R134L|CNP_uc002hyn.1_Missense_Mutation_p.R134L	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	369					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	40125782	40125782	3764	17	G	T	T	39	39	CNP	T	1	1
MAPT	4137	broad.mit.edu	37	17	44068945	44068945	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44068945C>A	uc002ijr.3	+	9	1820	c.1500C>A	c.(1498-1500)CCC>CCA	p.P500P	MAPT_uc010dau.2_Silent_p.P500P|MAPT_uc002ijs.3_Silent_p.P183P|MAPT_uc002ijx.3_Silent_p.P154P|MAPT_uc002ijt.3_Silent_p.P125P|MAPT_uc002iju.3_Silent_p.P125P|MAPT_uc002ijv.3_Silent_p.P132P	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	500					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---	capture		Silent	SNP	44068945	44068945	9680	17	C	A	A	21	21	MAPT	A	2	2
NFE2L1	4779	broad.mit.edu	37	17	46135698	46135698	+	Silent	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46135698T>C	uc002imz.3	+	6	1665	c.1014T>C	c.(1012-1014)AGT>AGC	p.S338S	NFE2L1_uc002ina.3_Silent_p.S308S|NFE2L1_uc002inb.3_Silent_p.S308S|NFE2L1_uc010wle.1_Silent_p.S150S|NFE2L1_uc010wlf.1_Silent_p.S182S	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	338					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	46135698	46135698	10767	17	T	C	C	59	59	NFE2L1	C	4	4
TTLL6	284076	broad.mit.edu	37	17	46847099	46847099	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46847099T>C	uc010wlo.1	-	15	2436	c.2401A>G	c.(2401-2403)AAC>GAC	p.N801D	TTLL6_uc002iob.2_Missense_Mutation_p.N494D|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.N554D|TTLL6_uc002iod.2_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	753						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46847099	46847099	17286	17	T	C	C	61	61	TTLL6	C	4	4
NGFR	4804	broad.mit.edu	37	17	47583905	47583905	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47583905C>T	uc002ioz.3	+	3	578	c.453C>T	c.(451-453)GAC>GAT	p.D151D		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	151	Extracellular (Potential).|TNFR-Cys 4.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)																	---	---	---	---	capture		Silent	SNP	47583905	47583905	10796	17	C	T	T	19	19	NGFR	T	1	1
MBTD1	54799	broad.mit.edu	37	17	49281158	49281158	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49281158G>T	uc002itr.3	-	8	1077	c.733C>A	c.(733-735)CCT>ACT	p.P245T	MBTD1_uc002itp.3_Missense_Mutation_p.P81T|MBTD1_uc002itq.3_Missense_Mutation_p.P245T	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	245	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)															---	---	---	---	capture		Missense_Mutation	SNP	49281158	49281158	9749	17	G	T	T	41	41	MBTD1	T	2	2
PCTP	58488	broad.mit.edu	37	17	53848490	53848490	+	Nonsense_Mutation	SNP	G	T	T	rs114651273	byFrequency;by1000genomes	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53848490G>T	uc002iul.3	+	3	392	c.283G>T	c.(283-285)GGA>TGA	p.G95*	PCTP_uc002ium.3_Nonsense_Mutation_p.G23*|PCTP_uc010dcg.2_Nonsense_Mutation_p.G95*|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	95	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)															---	---	---	---	capture		Nonsense_Mutation	SNP	53848490	53848490	12028	17	G	T	T	39	39	PCTP	T	5	1
BRIP1	83990	broad.mit.edu	37	17	59821886	59821886	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59821886T>C	uc002izk.1	-	15	2305	c.2164A>G	c.(2164-2166)ACA>GCA	p.T722A	BRIP1_uc002izl.1_Missense_Mutation_p.T103A	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	722					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1								F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	59821886	59821886	1545	17	T	C	C	58	58	BRIP1	C	4	4
MARCH10	162333	broad.mit.edu	37	17	60813646	60813646	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60813646T>C	uc010ddr.2	-	6	1821	c.1583A>G	c.(1582-1584)CAT>CGT	p.H528R	MARCH10_uc002jag.3_Missense_Mutation_p.H528R|MARCH10_uc010dds.2_Missense_Mutation_p.H566R|MARCH10_uc002jah.2_Missense_Mutation_p.H527R|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	528							ligase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	60813646	60813646	9682	17	T	C	C	51	51	MARCH10	C	4	4
GRIN2C	2905	broad.mit.edu	37	17	72842972	72842972	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72842972G>T	uc002jlt.1	-	10	2245	c.2089C>A	c.(2089-2091)CGT>AGT	p.R697S	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R697S	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	697	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)													---	---	---	---	capture		Missense_Mutation	SNP	72842972	72842972	7060	17	G	T	T	39	39	GRIN2C	T	1	1
ST6GALNAC1	55808	broad.mit.edu	37	17	74622792	74622792	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74622792G>T	uc002jsh.2	-	5	1426	c.1252C>A	c.(1252-1254)CTG>ATG	p.L418M	ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.L286M|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	418	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	74622792	74622792	15741	17	G	T	T	35	35	ST6GALNAC1	T	2	2
CANT1	124583	broad.mit.edu	37	17	76993112	76993112	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76993112C>A	uc002jwn.2	-	4	1032	c.593G>T	c.(592-594)TGG>TTG	p.W198L	CANT1_uc002jwk.2_Missense_Mutation_p.W198L|CANT1_uc002jwj.2_Missense_Mutation_p.W198L|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	198	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)					T	ETV4	prostate								---	---	---	---	capture		Missense_Mutation	SNP	76993112	76993112	2734	17	C	A	A	21	21	CANT1	A	2	2
RNF213	57674	broad.mit.edu	37	17	78348267	78348267	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78348267C>A	uc002jyh.1	+	25	7394	c.7171C>A	c.(7171-7173)CAG>AAG	p.Q2391K	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Q773K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---	capture		Missense_Mutation	SNP	78348267	78348267	13955	17	C	A	A	25	25	RNF213	A	2	2
RNF213	57674	broad.mit.edu	37	17	78355400	78355400	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78355400G>A	uc002jyh.1	+	32	8293	c.8070G>A	c.(8068-8070)CAG>CAA	p.Q2690Q	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.Q1072Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---	capture		Silent	SNP	78355400	78355400	13955	17	G	A	A	34	34	RNF213	A	2	2
RAB12	201475	broad.mit.edu	37	18	8609907	8609907	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8609907G>A	uc002knp.2	+	1	465	c.182G>A	c.(181-183)CGC>CAC	p.R61H	RAB12_uc002kno.1_Missense_Mutation_p.R157H	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	61					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	8609907	8609907	13357	18	G	A	A	38	38	RAB12	A	1	1
ASXL3	80816	broad.mit.edu	37	18	31323263	31323263	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31323263A>G	uc010dmg.1	+	12	3506	c.3451A>G	c.(3451-3453)AAA>GAA	p.K1151E	ASXL3_uc002kxq.2_Missense_Mutation_p.K858E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31323263	31323263	1087	18	A	G	G	1	1	ASXL3	G	4	4
ASXL3	80816	broad.mit.edu	37	18	31325671	31325671	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31325671G>T	uc010dmg.1	+	12	5914	c.5859G>T	c.(5857-5859)AAG>AAT	p.K1953N	ASXL3_uc002kxq.2_Missense_Mutation_p.K1660N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31325671	31325671	1087	18	G	T	T	33	33	ASXL3	T	2	2
ASXL3	80816	broad.mit.edu	37	18	31325735	31325735	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31325735G>C	uc010dmg.1	+	12	5978	c.5923G>C	c.(5923-5925)GTT>CTT	p.V1975L	ASXL3_uc002kxq.2_Missense_Mutation_p.V1682L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1975					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31325735	31325735	1087	18	G	C	C	44	44	ASXL3	C	3	3
KIAA1632	57724	broad.mit.edu	37	18	43469849	43469849	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43469849C>A	uc002lbm.2	-	28	4966	c.4866G>T	c.(4864-4866)AAG>AAT	p.K1622N	KIAA1632_uc010xcq.1_Missense_Mutation_p.K176N|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K497N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1622	Potential.				autophagy						0																		---	---	---	---	capture		Missense_Mutation	SNP	43469849	43469849	8558	18	C	A	A	24	24	KIAA1632	A	2	2
MYO5B	4645	broad.mit.edu	37	18	47369686	47369686	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47369686C>A	uc002leb.2	-	34	4824	c.4536G>T	c.(4534-4536)GCG>GCT	p.A1512A	MYO5B_uc002ldz.2_Silent_p.A82A|MYO5B_uc002lea.2_Silent_p.A627A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1512					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---	capture		Silent	SNP	47369686	47369686	10474	18	C	A	A	23	23	MYO5B	A	1	1
WDR7	23335	broad.mit.edu	37	18	54424511	54424511	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54424511C>G	uc002lgk.1	+	15	2898	c.2687C>G	c.(2686-2688)TCT>TGT	p.S896C	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S896C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	896										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)														---	---	---	---	capture		Missense_Mutation	SNP	54424511	54424511	17893	18	C	G	G	32	32	WDR7	G	3	3
NARS	4677	broad.mit.edu	37	18	55273874	55273874	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55273874C>A	uc002lgs.2	-	10	1339	c.1111G>T	c.(1111-1113)GGG>TGG	p.G371W	NARS_uc002lgt.2_Missense_Mutation_p.G370W|NARS_uc010xea.1_Missense_Mutation_p.G122W	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	371					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)													---	---	---	---	capture		Missense_Mutation	SNP	55273874	55273874	10566	18	C	A	A	24	24	NARS	A	2	2
CCBE1	147372	broad.mit.edu	37	18	57103145	57103145	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57103145G>T	uc002lib.2	-	11	1286	c.1216C>A	c.(1216-1218)CCA>ACA	p.P406T	CCBE1_uc010dpq.2_Missense_Mutation_p.P135T|CCBE1_uc002lia.2_Missense_Mutation_p.P259T	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	406					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	57103145	57103145	2851	18	G	T	T	43	43	CCBE1	T	2	2
SERPINB8	5271	broad.mit.edu	37	18	61650853	61650853	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61650853C>A	uc002ljv.2	+	5	634	c.465C>A	c.(463-465)CCC>CCA	p.P155P	SERPINB8_uc002ljt.2_Silent_p.P155P|SERPINB8_uc002lju.2_Silent_p.P155P|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	155					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)																---	---	---	---	capture		Silent	SNP	61650853	61650853	14595	18	C	A	A	22	22	SERPINB8	A	2	2
CDH19	28513	broad.mit.edu	37	18	64172361	64172361	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64172361C>G	uc002lkc.1	-	12	2145	c.2007G>C	c.(2005-2007)AAG>AAC	p.K669N	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	669	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---	capture		Missense_Mutation	SNP	64172361	64172361	3233	18	C	G	G	32	32	CDH19	G	3	3
CBLN2	147381	broad.mit.edu	37	18	70205487	70205487	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70205487A>G	uc002lku.2	-	4	834	c.599T>C	c.(598-600)CTC>CCC	p.L200P	CBLN2_uc002lkv.2_Missense_Mutation_p.L200P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	200	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)																---	---	---	---	capture		Missense_Mutation	SNP	70205487	70205487	2824	18	A	G	G	11	11	CBLN2	G	4	4
ZNF556	80032	broad.mit.edu	37	19	2876117	2876117	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2876117G>T	uc002lwp.1	+	3	244	c.157G>T	c.(157-159)GGG>TGG	p.G53W	ZNF556_uc002lwq.2_Missense_Mutation_p.G53W	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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		Missense_Mutation	SNP	2876117	2876117	18582	19	G	T	T	47	47	ZNF556	T	2	2
MLLT1	4298	broad.mit.edu	37	19	6230620	6230620	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6230620G>T	uc002mek.2	-	4	545	c.381C>A	c.(379-381)CCC>CCA	p.P127P		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	127					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1								T	MLL	AL								---	---	---	---	capture		Silent	SNP	6230620	6230620	10015	19	G	T	T	47	47	MLLT1	T	2	2
XAB2	56949	broad.mit.edu	37	19	7688675	7688675	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7688675G>A	uc002mgx.2	-	8	1087	c.1061C>T	c.(1060-1062)CCA>CTA	p.P354L		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	354					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4													Direct_reversal_of_damage|NER					---	---	---	---	capture		Missense_Mutation	SNP	7688675	7688675	17992	19	G	A	A	47	47	XAB2	A	2	2
FBN3	84467	broad.mit.edu	37	19	8201158	8201158	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8201158C>A	uc002mjf.2	-	11	1402	c.1381G>T	c.(1381-1383)GGT>TGT	p.G461C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	461	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	8201158	8201158	5940	19	C	A	A	23	23	FBN3	A	1	1
MUC16	94025	broad.mit.edu	37	19	9070727	9070727	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9070727C>T	uc002mkp.2	-	3	16923	c.16719G>A	c.(16717-16719)GGG>GGA	p.G5573G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5575	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	9070727	9070727	10367	19	C	T	T	22	22	MUC16	T	2	2
ELAVL3	1995	broad.mit.edu	37	19	11569362	11569362	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11569362G>T	uc002mry.1	-	4	778	c.398C>A	c.(397-399)CCC>CAC	p.P133H	ELAVL3_uc002mrx.1_Missense_Mutation_p.P133H	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	133	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.P133S(1)		ovary(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	11569362	11569362	5242	19	G	T	T	43	43	ELAVL3	T	2	2
ZNF625	90589	broad.mit.edu	37	19	12256788	12256788	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12256788G>T	uc002mth.2	-	4	595	c.245C>A	c.(244-246)CCC>CAC	p.P82H	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.P116H	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	82	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	12256788	12256788	18644	19	G	T	T	43	43	ZNF625	T	2	2
ZNF333	84449	broad.mit.edu	37	19	14829391	14829391	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14829391G>T	uc002mzn.2	+	12	1386	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	ZNF333_uc002mzk.3_Nonsense_Mutation_p.G309*	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	14829391	14829391	18442	19	G	T	T	39	39	ZNF333	T	5	1
MYO9B	4650	broad.mit.edu	37	19	17213065	17213065	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17213065G>T	uc010eak.2	+	2	690	c.538G>T	c.(538-540)GGG>TGG	p.G180W	MYO9B_uc002nfi.2_Missense_Mutation_p.G180W|MYO9B_uc002nfj.1_Missense_Mutation_p.G180W	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	180	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17213065	17213065	10480	19	G	T	T	43	43	MYO9B	T	2	2
UPF1	5976	broad.mit.edu	37	19	18967066	18967066	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18967066G>T	uc002nkg.2	+	13	2089	c.1814G>T	c.(1813-1815)CGG>CTG	p.R605L	UPF1_uc002nkf.2_Missense_Mutation_p.R594L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	605					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	18967066	18967066	17563	19	G	T	T	39	39	UPF1	T	1	1
ZNF99	7652	broad.mit.edu	37	19	22940797	22940797	+	Silent	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22940797T>C	uc010xrh.1	-	5	1641	c.1641A>G	c.(1639-1641)AAA>AAG	p.K547K		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		Silent	SNP	22940797	22940797	18808	19	T	C	C	60	60	ZNF99	C	4	4
ZNF91	7644	broad.mit.edu	37	19	23544231	23544231	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23544231G>C	uc002nre.2	-	4	1663	c.1550C>G	c.(1549-1551)CCC>CGC	p.P517R	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P485R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	517						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Missense_Mutation	SNP	23544231	23544231	18804	19	G	C	C	43	43	ZNF91	C	3	3
ZNF91	7644	broad.mit.edu	37	19	23578154	23578154	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23578154C>G	uc002nre.2	-	1	116	c.3G>C	c.(1-3)ATG>ATC	p.M1I	ZNF91_uc010xrj.1_Missense_Mutation_p.M1I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	1						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Missense_Mutation	SNP	23578154	23578154	18804	19	C	G	G	25	25	ZNF91	G	3	3
FFAR3	2865	broad.mit.edu	37	19	35849930	35849930	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35849930C>T	uc002nzd.2	+	2	213	c.138C>T	c.(136-138)CGC>CGT	p.R46R	FFAR3_uc010xsu.1_RNA	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46	Cytoplasmic.					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)															---	---	---	---	capture		Silent	SNP	35849930	35849930	6066	19	C	T	T	26	26	FFAR3	T	2	2
GAPDHS	26330	broad.mit.edu	37	19	36034590	36034590	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36034590G>T	uc002oaf.1	+	9	1033	c.917G>T	c.(916-918)CGG>CTG	p.R306L	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	306		Glyceraldehyde 3-phosphate (By similarity).			gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	36034590	36034590	6501	19	G	T	T	39	39	GAPDHS	T	1	1
PSMC4	5704	broad.mit.edu	37	19	40478439	40478439	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40478439C>T	uc002omq.2	+	3	336	c.299C>T	c.(298-300)ACA>ATA	p.T100I	PSMC4_uc002omr.2_Missense_Mutation_p.T69I	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---	capture		Missense_Mutation	SNP	40478439	40478439	13142	19	C	T	T	17	17	PSMC4	T	2	2
LYPD4	147719	broad.mit.edu	37	19	42342205	42342205	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42342205G>A	uc002orp.1	-	4	1326	c.342C>T	c.(340-342)CTC>CTT	p.L114L	LYPD4_uc002orq.1_Silent_p.L79L	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4 precursor	114						anchored to membrane|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	42342205	42342205	9489	19	G	A	A	33	33	LYPD4	A	2	2
CIC	23152	broad.mit.edu	37	19	42794659	42794659	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42794659G>C	uc002otf.1	+	10	1779	c.1739G>C	c.(1738-1740)GGT>GCT	p.G580A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	580	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)						T	DUX4	soft tissue sarcoma								---	---	---	---	capture		Missense_Mutation	SNP	42794659	42794659	3558	19	G	C	C	44	44	CIC	C	3	3
IGFL1	374918	broad.mit.edu	37	19	46733753	46733753	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46733753C>A	uc002pee.2	+	3	325	c.302C>A	c.(301-303)TCG>TAG	p.S101*		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	IGF-like family member 1 precursor	101						extracellular space	protein binding				0		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)														---	---	---	---	capture		Nonsense_Mutation	SNP	46733753	46733753	7887	19	C	A	A	31	31	IGFL1	A	5	1
C5AR1	728	broad.mit.edu	37	19	47823500	47823500	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47823500G>T	uc002pgj.1	+	2	515	c.466G>T	c.(466-468)GCC>TCC	p.A156S		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	156	Helical; Name=4; (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)														---	---	---	---	capture		Missense_Mutation	SNP	47823500	47823500	2379	19	G	T	T	38	38	C5AR1	T	1	1
GPR77	27202	broad.mit.edu	37	19	47844202	47844202	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47844202G>T	uc010ela.1	+	2	364	c.146G>T	c.(145-147)GGG>GTG	p.G49V	GPR77_uc002pgk.1_Missense_Mutation_p.G49V	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	49	Helical; Name=1; (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)														---	---	---	---	capture		Missense_Mutation	SNP	47844202	47844202	6984	19	G	T	T	43	43	GPR77	T	2	2
CARD8	22900	broad.mit.edu	37	19	48737714	48737714	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48737714G>A	uc002pie.3	-	3	335	c.22C>T	c.(22-24)CAT>TAT	p.H8Y	CARD8_uc002pii.3_Missense_Mutation_p.P99L|CARD8_uc010xzi.1_Missense_Mutation_p.H8Y|CARD8_uc010els.2_5'Flank|CARD8_uc010xzj.1_Missense_Mutation_p.P99L|CARD8_uc010xzk.1_Missense_Mutation_p.H32Y|CARD8_uc002pif.3_Missense_Mutation_p.H8Y|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.P49L|CARD8_uc010xzl.1_Missense_Mutation_p.P49L|CARD8_uc010xzm.1_Missense_Mutation_p.P99L	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	8					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---	capture		Missense_Mutation	SNP	48737714	48737714	2770	19	G	A	A	47	47	CARD8	A	2	2
SLC6A16	28968	broad.mit.edu	37	19	49793961	49793961	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49793961C>A	uc002pmz.2	-	11	2076	c.1842G>T	c.(1840-1842)TGG>TGT	p.W614C	SLC6A16_uc002pna.2_Missense_Mutation_p.W614C	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	614	Helical; Name=11; (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---	capture		Missense_Mutation	SNP	49793961	49793961	15176	19	C	A	A	26	26	SLC6A16	A	2	2
ZNF766	90321	broad.mit.edu	37	19	52785380	52785380	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52785380G>T	uc002pyr.1	+	2	78	c.35G>T	c.(34-36)AGG>ATG	p.R12M	ZNF766_uc002pys.1_Missense_Mutation_p.R12M|ZNF766_uc002pyt.1_Missense_Mutation_p.R27M	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)														---	---	---	---	capture		Missense_Mutation	SNP	52785380	52785380	18738	19	G	T	T	35	35	ZNF766	T	2	2
ZNF665	79788	broad.mit.edu	37	19	53678760	53678760	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53678760G>T	uc010eqm.1	-	3	180	c.80C>A	c.(79-81)CCT>CAT	p.P27H		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	Error:Variant_position_missing_in_Q9H7R5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)														---	---	---	---	capture		Missense_Mutation	SNP	53678760	53678760	18668	19	G	T	T	35	35	ZNF665	T	2	2
ZNF761	388561	broad.mit.edu	37	19	53958064	53958064	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53958064G>T	uc010eqp.2	+	7	761	c.303G>T	c.(301-303)TGG>TGT	p.W101C	ZNF761_uc010ydy.1_Missense_Mutation_p.W47C|ZNF761_uc002qbt.1_Missense_Mutation_p.W47C	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---	capture		Missense_Mutation	SNP	53958064	53958064	18734	19	G	T	T	42	42	ZNF761	T	2	2
NLRP12	91662	broad.mit.edu	37	19	54313983	54313983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54313983C>T	uc002qch.3	-	3	1150	c.930G>A	c.(928-930)TGG>TGA	p.W310*	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Nonsense_Mutation_p.W310*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.W310*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.W310*	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	310	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---	capture		Nonsense_Mutation	SNP	54313983	54313983	10877	19	C	T	T	18	18	NLRP12	T	5	2
ZNF471	57573	broad.mit.edu	37	19	57037235	57037235	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57037235A>T	uc002qnh.2	+	5	1932	c.1799A>T	c.(1798-1800)CAG>CTG	p.Q600L		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	600	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)														---	---	---	---	capture		Missense_Mutation	SNP	57037235	57037235	18524	19	A	T	T	7	7	ZNF471	T	4	4
PEG3	5178	broad.mit.edu	37	19	57328739	57328739	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57328739C>A	uc002qnu.2	-	7	1422	c.1071G>T	c.(1069-1071)AGG>AGT	p.R357S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R328S|PEG3_uc002qnv.2_Missense_Mutation_p.R357S|PEG3_uc002qnw.2_Missense_Mutation_p.R233S|PEG3_uc002qnx.2_Missense_Mutation_p.R231S|PEG3_uc010etr.2_Missense_Mutation_p.R357S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	357					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---	capture		Missense_Mutation	SNP	57328739	57328739	12141	19	C	A	A	22	22	PEG3	A	2	2
USP29	57663	broad.mit.edu	37	19	57641512	57641512	+	Missense_Mutation	SNP	A	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57641512A>C	uc002qny.2	+	4	1825	c.1469A>C	c.(1468-1470)AAG>ACG	p.K490T		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	490					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57641512	57641512	17623	19	A	C	C	3	3	USP29	C	4	4
ZIK1	284307	broad.mit.edu	37	19	58099930	58099930	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58099930C>A	uc002qpg.2	+	3	193	c.96C>A	c.(94-96)ATC>ATA	p.I32I	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_5'UTR|ZIK1_uc002qpi.2_Silent_p.I19I|ZIK1_uc002qpj.2_Intron	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---	capture		Silent	SNP	58099930	58099930	18274	19	C	A	A	31	31	ZIK1	A	1	1
ZNF446	55663	broad.mit.edu	37	19	58989487	58989487	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58989487C>A	uc002qsz.2	+	4	683	c.566C>A	c.(565-567)CCT>CAT	p.P189H	ZNF446_uc002qta.2_Missense_Mutation_p.P189H|ZNF446_uc010eur.2_Missense_Mutation_p.P189H	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	189					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---	capture		Missense_Mutation	SNP	58989487	58989487	18512	19	C	A	A	24	24	ZNF446	A	2	2
TTC15	51112	broad.mit.edu	37	2	3405583	3405583	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3405583G>T	uc002qxm.1	+	3	1289	c.1083G>T	c.(1081-1083)CTG>CTT	p.L361L	TTC15_uc002qxn.1_Silent_p.L361L|TTC15_uc010ewm.1_Silent_p.L361L	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	361							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---	capture		Silent	SNP	3405583	3405583	17236	2	G	T	T	47	47	TTC15	T	2	2
DDX1	1653	broad.mit.edu	37	2	15770902	15770902	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15770902G>T	uc002rce.2	+	26	2383	c.2095G>T	c.(2095-2097)GGA>TGA	p.G699*		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	699	Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)														---	---	---	---	capture		Nonsense_Mutation	SNP	15770902	15770902	4512	2	G	T	T	47	47	DDX1	T	5	2
NT5C1B	93034	broad.mit.edu	37	2	18758119	18758119	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18758119G>T	uc002rcz.2	-	8	1348	c.1244C>A	c.(1243-1245)CCC>CAC	p.P415H	NT5C1B_uc002rcy.2_Missense_Mutation_p.P415H|NT5C1B_uc010exr.2_Missense_Mutation_p.P357H|NT5C1B_uc010yju.1_Missense_Mutation_p.P355H|NT5C1B_uc002rda.2_Missense_Mutation_p.P355H|NT5C1B_uc010yjv.1_Missense_Mutation_p.P432H|NT5C1B_uc010yjw.1_Missense_Mutation_p.P398H|NT5C1B_uc010exs.2_Missense_Mutation_p.P417H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	415					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)																---	---	---	---	capture		Missense_Mutation	SNP	18758119	18758119	11091	2	G	T	T	43	43	NT5C1B	T	2	2
APOB	338	broad.mit.edu	37	2	21255260	21255260	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21255260C>A	uc002red.2	-	10	1446	c.1318G>T	c.(1318-1320)GCC>TCC	p.A440S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	440	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---	capture		Missense_Mutation	SNP	21255260	21255260	796	2	C	A	A	28	28	APOB	A	2	2
NCOA1	8648	broad.mit.edu	37	2	24985643	24985643	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24985643C>A	uc002rfk.2	+	20	4411	c.4153C>A	c.(4153-4155)CAG>AAG	p.Q1385K	NCOA1_uc010eye.2_Missense_Mutation_p.Q1385K|NCOA1_uc002rfi.2_Missense_Mutation_p.Q1234K|NCOA1_uc002rfj.2_Missense_Mutation_p.Q1385K|NCOA1_uc002rfl.2_Missense_Mutation_p.Q1385K|NCOA1_uc010eyf.2_Intron	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1385									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---	capture		Missense_Mutation	SNP	24985643	24985643	10627	2	C	A	A	21	21	NCOA1	A	2	2
CAD	790	broad.mit.edu	37	2	27446477	27446477	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27446477G>T	uc002rji.2	+	7	1018	c.856G>T	c.(856-858)GGG>TGG	p.G286W	CAD_uc010eyw.2_Missense_Mutation_p.G286W	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	286	Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	27446477	27446477	2681	2	G	T	T	47	47	CAD	T	2	2
C2orf71	388939	broad.mit.edu	37	2	29296003	29296003	+	Silent	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29296003T>C	uc002rmt.1	-	1	1125	c.1125A>G	c.(1123-1125)CCA>CCG	p.P375P		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	375					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1																		---	---	---	---	capture		Silent	SNP	29296003	29296003	2279	2	T	C	C	55	55	C2orf71	C	4	4
NLRC4	58484	broad.mit.edu	37	2	32449823	32449823	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32449823C>A	uc002roi.2	-	9	3040	c.2794G>T	c.(2794-2796)GGA>TGA	p.G932*	NLRC4_uc002roj.1_Nonsense_Mutation_p.G932*|NLRC4_uc010ezt.1_Nonsense_Mutation_p.G267*	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	932	LRR 11.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---	capture		Nonsense_Mutation	SNP	32449823	32449823	10872	2	C	A	A	21	21	NLRC4	A	5	2
LTBP1	4052	broad.mit.edu	37	2	33246006	33246006	+	Missense_Mutation	SNP	G	T	T	rs148571124		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33246006G>T	uc002ros.2	+	3	596	c.596G>T	c.(595-597)GGG>GTG	p.G199V		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	199	EGF-like 1.				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		Missense_Mutation	SNP	33246006	33246006	9449	2	G	T	T	43	43	LTBP1	T	2	2
RASGRP3	25780	broad.mit.edu	37	2	33747076	33747076	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33747076G>T	uc002rox.2	+	8	1050	c.423G>T	c.(421-423)AAG>AAT	p.K141N	RASGRP3_uc010ync.1_Missense_Mutation_p.K141N|RASGRP3_uc002roy.2_Missense_Mutation_p.K141N	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	141					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)																	---	---	---	---	capture		Missense_Mutation	SNP	33747076	33747076	13537	2	G	T	T	35	35	RASGRP3	T	2	2
HEATR5B	54497	broad.mit.edu	37	2	37283723	37283723	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37283723C>A	uc002rpp.1	-	16	2355	c.2259G>T	c.(2257-2259)CTG>CTT	p.L753L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	753							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---	capture		Silent	SNP	37283723	37283723	7315	2	C	A	A	21	21	HEATR5B	A	2	2
GALM	130589	broad.mit.edu	37	2	38956735	38956735	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38956735G>T	uc002rqy.2	+	5	924	c.672G>T	c.(670-672)CTG>CTT	p.L224L		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	224					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)																---	---	---	---	capture		Silent	SNP	38956735	38956735	6469	2	G	T	T	45	45	GALM	T	2	2
ABCG8	64241	broad.mit.edu	37	2	44073420	44073420	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44073420G>T	uc002rtq.2	+	3	382	c.292G>T	c.(292-294)GGG>TGG	p.G98W	ABCG8_uc010yoa.1_Missense_Mutation_p.G98W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	98	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	44073420	44073420	73	2	G	T	T	47	47	ABCG8	T	2	2
C2orf61	285051	broad.mit.edu	37	2	47357337	47357337	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47357337G>T	uc002rvs.2	-	4	589	c.462C>A	c.(460-462)TCC>TCA	p.S154S	C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Silent_p.S154S	NM_173649	NP_775920	Q8N801	CB061_HUMAN	hypothetical protein LOC285051 isoform 2	154											0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)															---	---	---	---	capture		Silent	SNP	47357337	47357337	2268	2	G	T	T	47	47	C2orf61	T	2	2
MSH2	4436	broad.mit.edu	37	2	47657031	47657031	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47657031G>T	uc002rvy.1	+	7	1295	c.1227G>T	c.(1225-1227)CAG>CAT	p.Q409H	MSH2_uc010yoh.1_Missense_Mutation_p.Q343H|MSH2_uc002rvz.2_Missense_Mutation_p.Q409H|MSH2_uc010fbg.2_Missense_Mutation_p.Q219H	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	409					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.Q409Q(1)|p.?(1)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	47657031	47657031	10263	2	G	T	T	35	35	MSH2	T	2	2
NRXN1	9378	broad.mit.edu	37	2	50318467	50318467	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50318467G>T	uc010fbp.2	-	3	1414	c.607C>A	c.(607-609)CCT>ACT	p.P203T	NRXN1_uc002rxb.3_Missense_Mutation_p.P910T|NRXN1_uc010fbq.2_Missense_Mutation_p.P1278T|NRXN1_uc002rxe.3_Missense_Mutation_p.P1238T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	203	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	50318467	50318467	11070	2	G	T	T	43	43	NRXN1	T	2	2
ERLEC1	27248	broad.mit.edu	37	2	54036405	54036405	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54036405C>A	uc002rxl.2	+	10	1376	c.1096C>A	c.(1096-1098)CAT>AAT	p.H366N	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.H366N|ERLEC1_uc002rxn.2_Missense_Mutation_p.H312N	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	366	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54036405	54036405	5424	2	C	A	A	21	21	ERLEC1	A	2	2
PUS10	150962	broad.mit.edu	37	2	61194650	61194650	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61194650G>T	uc010fci.2	-	6	662	c.602C>A	c.(601-603)CCC>CAC	p.P201H	PUS10_uc002sao.2_Missense_Mutation_p.P201H|PUS10_uc010ypk.1_5'UTR	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	201					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---	capture		Missense_Mutation	SNP	61194650	61194650	13289	2	G	T	T	43	43	PUS10	T	2	2
PUS10	150962	broad.mit.edu	37	2	61194689	61194689	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61194689C>A	uc010fci.2	-	6	623	c.563G>T	c.(562-564)TGG>TTG	p.W188L	PUS10_uc002sao.2_Missense_Mutation_p.W188L|PUS10_uc010ypk.1_5'UTR	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	188					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---	capture		Missense_Mutation	SNP	61194689	61194689	13289	2	C	A	A	21	21	PUS10	A	2	2
USP34	9736	broad.mit.edu	37	2	61415658	61415658	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61415658G>T	uc002sbe.2	-	80	10242	c.10220C>A	c.(10219-10221)CCT>CAT	p.P3407H	USP34_uc002sbd.2_Missense_Mutation_p.P209H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3407					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	61415658	61415658	17629	2	G	T	T	35	35	USP34	T	2	2
ALMS1	7840	broad.mit.edu	37	2	73678881	73678881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73678881C>T	uc002sje.1	+	10	5341	c.5230C>T	c.(5230-5232)CAA>TAA	p.Q1744*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1700*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.Q1130*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q1130*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1742	34 X 47 AA approximate tandem repeat.|26.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	73678881	73678881	538	2	C	T	T	29	29	ALMS1	T	5	2
ALMS1	7840	broad.mit.edu	37	2	73717021	73717021	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717021C>A	uc002sje.1	+	12	8049	c.7938C>A	c.(7936-7938)TCC>TCA	p.S2646S	ALMS1_uc002sjf.1_Silent_p.S2602S|ALMS1_uc002sjg.2_Silent_p.S2032S|ALMS1_uc002sjh.1_Silent_p.S2032S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2644					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---	capture		Silent	SNP	73717021	73717021	538	2	C	A	A	24	24	ALMS1	A	2	2
C2orf65	130951	broad.mit.edu	37	2	74842162	74842162	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74842162C>A	uc002smy.2	-	3	472	c.355G>T	c.(355-357)GGG>TGG	p.G119W	C2orf65_uc010ysa.1_Missense_Mutation_p.G119W|C2orf65_uc002smz.2_Missense_Mutation_p.G119W	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	119					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	74842162	74842162	2272	2	C	A	A	21	21	C2orf65	A	2	2
LRRTM1	347730	broad.mit.edu	37	2	80530686	80530686	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530686C>A	uc002sok.1	-	2	529	c.259G>T	c.(259-261)GGG>TGG	p.G87W	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	87	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---	capture		Missense_Mutation	SNP	80530686	80530686	9415	2	C	A	A	22	22	LRRTM1	A	2	2
DNAH6	1768	broad.mit.edu	37	2	84775477	84775477	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84775477G>T	uc010fgb.2	+	8	1389	c.1252G>T	c.(1252-1254)GAC>TAC	p.D418Y	DNAH6_uc002soo.2_5'UTR|DNAH6_uc002sop.2_5'UTR	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy polypeptide 6	418	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	84775477	84775477	4788	2	G	T	T	33	33	DNAH6	T	2	2
USP39	10713	broad.mit.edu	37	2	85850862	85850862	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85850862C>A	uc002sqe.2	+	4	563	c.527C>A	c.(526-528)CCA>CAA	p.P176Q	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Missense_Mutation_p.P98Q|USP39_uc010ysv.1_Missense_Mutation_p.P73Q|USP39_uc010fgn.1_Missense_Mutation_p.P176Q|USP39_uc002sqf.2_Missense_Mutation_p.P176Q|USP39_uc002sqg.2_Missense_Mutation_p.P176Q|USP39_uc010fgo.2_Missense_Mutation_p.P176Q	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	176	UBP-type.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	85850862	85850862	17634	2	C	A	A	21	21	USP39	A	2	2
EIF2AK3	9451	broad.mit.edu	37	2	88885387	88885387	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88885387C>T	uc002stc.3	-	9	1824	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	541	Cytoplasmic (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	88885387	88885387	5187	2	C	T	T	27	27	EIF2AK3	T	1	1
TMEM131	23505	broad.mit.edu	37	2	98412760	98412760	+	Missense_Mutation	SNP	A	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98412760A>C	uc002syh.3	-	28	3350	c.3121T>G	c.(3121-3123)TGT>GGT	p.C1041G		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1041						integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	98412760	98412760	16575	2	A	C	C	8	8	TMEM131	C	4	4
CLASP1	23332	broad.mit.edu	37	2	122216532	122216532	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122216532C>A	uc002tnc.2	-	13	1588	c.1198G>T	c.(1198-1200)GGG>TGG	p.G400W	CLASP1_uc002tna.2_5'Flank|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.G400W|CLASP1_uc010yza.1_Missense_Mutation_p.G400W|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.G400W	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	400					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)																	---	---	---	---	capture		Missense_Mutation	SNP	122216532	122216532	3590	2	C	A	A	22	22	CLASP1	A	2	2
AMMECR1L	83607	broad.mit.edu	37	2	128631404	128631404	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128631404G>T	uc002tpl.2	-	3	656	c.405C>A	c.(403-405)CCC>CCA	p.P135P	AMMECR1L_uc002tpm.2_Silent_p.P135P	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	135	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)														---	---	---	---	capture		Silent	SNP	128631404	128631404	582	2	G	T	T	35	35	AMMECR1L	T	2	2
NCKAP5	344148	broad.mit.edu	37	2	133541125	133541125	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133541125C>A	uc002ttp.2	-	14	3633	c.3259G>T	c.(3259-3261)GGG>TGG	p.G1087W	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1087	Ser-rich.						protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	133541125	133541125	10622	2	C	A	A	24	24	NCKAP5	A	2	2
MGAT5	4249	broad.mit.edu	37	2	135107486	135107486	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135107486C>A	uc002ttv.1	+	9	1368	c.1223C>A	c.(1222-1224)CCT>CAT	p.P408H		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	408	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---	capture		Missense_Mutation	SNP	135107486	135107486	9938	2	C	A	A	24	24	MGAT5	A	2	2
LRP1B	53353	broad.mit.edu	37	2	141032123	141032123	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141032123C>A	uc002tvj.1	-	85	13984	c.13012G>T	c.(13012-13014)GGG>TGG	p.G4338W		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4338	Extracellular (Potential).|EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141032123	141032123	9328	2	C	A	A	21	21	LRP1B	A	2	2
LRP1B	53353	broad.mit.edu	37	2	141081591	141081591	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141081591A>T	uc002tvj.1	-	81	13357	c.12385T>A	c.(12385-12387)TAT>AAT	p.Y4129N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4129	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141081591	141081591	9328	2	A	T	T	16	16	LRP1B	T	4	4
TANK	10010	broad.mit.edu	37	2	162087607	162087607	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162087607G>T	uc002ubr.1	+	7	804	c.646G>T	c.(646-648)GGA>TGA	p.G216*	TANK_uc002ubs.2_Nonsense_Mutation_p.G216*	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	216						cytosol	metal ion binding|protein binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	162087607	162087607	16067	2	G	T	T	35	35	TANK	T	5	2
SCN1A	6323	broad.mit.edu	37	2	166848885	166848885	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166848885G>T	uc010zcz.1	-	26	4885	c.4867C>A	c.(4867-4869)CTG>ATG	p.L1623M		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1634	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---	capture		Missense_Mutation	SNP	166848885	166848885	14396	2	G	T	T	35	35	SCN1A	T	2	2
GORASP2	26003	broad.mit.edu	37	2	171822450	171822450	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171822450C>G	uc002ugk.2	+	10	1309	c.1169C>G	c.(1168-1170)ACC>AGC	p.T390S	GORASP2_uc002ugj.2_Missense_Mutation_p.T322S|GORASP2_uc010zdl.1_Missense_Mutation_p.T402S|GORASP2_uc010zdm.1_Missense_Mutation_p.T346S|GORASP2_uc002ugl.2_Missense_Mutation_p.T322S|GORASP2_uc002ugm.2_Missense_Mutation_p.T172S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	390						Golgi membrane				breast(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	171822450	171822450	6849	2	C	G	G	18	18	GORASP2	G	3	3
SP3	6670	broad.mit.edu	37	2	174777852	174777852	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174777852C>A	uc002uig.2	-	6	2139	c.1975G>T	c.(1975-1977)GGT>TGT	p.G659C	SP3_uc002uie.2_Missense_Mutation_p.G591C|SP3_uc002uif.2_Missense_Mutation_p.G606C|SP3_uc010zel.1_Missense_Mutation_p.G656C	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	659	C2H2-type 2.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	174777852	174777852	15465	2	C	A	A	21	21	SP3	A	2	2
NFE2L2	4780	broad.mit.edu	37	2	178098957	178098957	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178098957G>A	uc002ulh.3	-	2	643	c.88C>T	c.(88-90)CTT>TTT	p.L30F	NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)					Mis		NSCLC|HNSCC					HNSCC(56;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	178098957	178098957	10768	2	G	A	A	33	33	NFE2L2	A	2	2
PRKRA	8575	broad.mit.edu	37	2	179315012	179315012	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179315012G>T	uc002umf.2	-	2	393	c.192C>A	c.(190-192)CCC>CCA	p.P64P	PRKRA_uc002umd.2_Silent_p.P39P|PRKRA_uc002ume.2_Silent_p.P53P|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	64	Sufficient for self-association and interaction with TARBP2.|DRBM 1.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)															---	---	---	---	capture		Silent	SNP	179315012	179315012	12967	2	G	T	T	47	47	PRKRA	T	2	2
PRKRA	8575	broad.mit.edu	37	2	179315055	179315055	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179315055G>T	uc002umf.2	-	2	350	c.149C>A	c.(148-150)CCA>CAA	p.P50Q	PRKRA_uc002umd.2_Missense_Mutation_p.P25Q|PRKRA_uc002ume.2_Missense_Mutation_p.P39Q|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	50	Sufficient for self-association and interaction with TARBP2.|DRBM 1.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	179315055	179315055	12967	2	G	T	T	47	47	PRKRA	T	2	2
TTN	7273	broad.mit.edu	37	2	179400827	179400827	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179400827C>A	uc010zfg.1	-	306	93167	c.92943G>T	c.(92941-92943)AAG>AAT	p.K30981N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K24676N|TTN_uc010zfi.1_Missense_Mutation_p.K24609N|TTN_uc010zfj.1_Missense_Mutation_p.K24484N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31908							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	179400827	179400827	17290	2	C	A	A	24	24	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179407938	179407938	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179407938G>T	uc010zfg.1	-	296	89282	c.89058C>A	c.(89056-89058)ACC>ACA	p.T29686T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T23381T|TTN_uc010zfi.1_Silent_p.T23314T|TTN_uc010zfj.1_Silent_p.T23189T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30613							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		Silent	SNP	179407938	179407938	17290	2	G	T	T	35	35	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179416982	179416982	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179416982G>T	uc010zfg.1	-	284	83165	c.82941C>A	c.(82939-82941)GTC>GTA	p.V27647V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V21342V|TTN_uc010zfi.1_Silent_p.V21275V|TTN_uc010zfj.1_Silent_p.V21150V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28574							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		Silent	SNP	179416982	179416982	17290	2	G	T	T	41	41	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179438954	179438954	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179438954C>A	uc010zfg.1	-	275	64425	c.64201G>T	c.(64201-64203)GGA>TGA	p.G21401*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.G15096*|TTN_uc010zfi.1_Nonsense_Mutation_p.G15029*|TTN_uc010zfj.1_Nonsense_Mutation_p.G14904*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22328							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		Nonsense_Mutation	SNP	179438954	179438954	17290	2	C	A	A	21	21	TTN	A	5	2
TTN	7273	broad.mit.edu	37	2	179474985	179474985	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179474985C>A	uc010zfg.1	-	220	43788	c.43564G>T	c.(43564-43566)GGG>TGG	p.G14522W	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8217W|TTN_uc010zfi.1_Missense_Mutation_p.G8150W|TTN_uc010zfj.1_Missense_Mutation_p.G8025W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15449							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	179474985	179474985	17290	2	C	A	A	21	21	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179545010	179545010	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179545010G>T	uc010zfg.1	-	136	29881	c.29657C>A	c.(29656-29658)CCT>CAT	p.P9886H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6547H|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10813							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	179545010	179545010	17290	2	G	T	T	35	35	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179604870	179604870	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179604870C>T	uc010zfh.1	-	46	12801	c.12577G>A	c.(12577-12579)GTG>ATG	p.V4193M	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V4126M|TTN_uc010zfj.1_Missense_Mutation_p.V4001M|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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	179604870	179604870	17290	2	C	T	T	19	19	TTN	T	1	1
TTN	7273	broad.mit.edu	37	2	179611618	179611618	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179611618G>T	uc002unb.2	-	46	15733	c.15509C>A	c.(15508-15510)CCC>CAC	p.P5170H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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	179611618	179611618	17290	2	G	T	T	43	43	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179614291	179614291	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179614291C>A	uc002unb.2	-	46	13060	c.12836G>T	c.(12835-12837)GGA>GTA	p.G4279V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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	179614291	179614291	17290	2	C	A	A	30	30	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179622471	179622471	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179622471G>T	uc010zfi.1	-	44	10562	c.10338C>A	c.(10336-10338)CCC>CCA	p.P3446P	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133432	NP_597676	Q8WZ42	TITIN_HUMAN	titin isoform novex-1	3530							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		Silent	SNP	179622471	179622471	17290	2	G	T	T	47	47	TTN	T	2	2
CCDC141	285025	broad.mit.edu	37	2	179736207	179736207	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179736207G>T	uc002unf.1	-	4	484	c.427C>A	c.(427-429)CAG>AAG	p.Q143K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	143							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---	capture		Missense_Mutation	SNP	179736207	179736207	2895	2	G	T	T	47	47	CCDC141	T	2	2
ZNF385B	151126	broad.mit.edu	37	2	180348045	180348045	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180348045G>T	uc002unn.3	-	6	1228	c.624C>A	c.(622-624)CCC>CCA	p.P208P	ZNF385B_uc002unj.2_Silent_p.P106P|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.P105P|ZNF385B_uc002unm.2_Silent_p.P132P	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	208						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)															---	---	---	---	capture		Silent	SNP	180348045	180348045	18469	2	G	T	T	47	47	ZNF385B	T	2	2
NCKAP1	10787	broad.mit.edu	37	2	183795480	183795480	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183795480C>A	uc002upc.2	-	27	3298	c.2896G>T	c.(2896-2898)GGA>TGA	p.G966*	NCKAP1_uc002upb.2_Nonsense_Mutation_p.G972*	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	966					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---	capture		Nonsense_Mutation	SNP	183795480	183795480	10620	2	C	A	A	23	23	NCKAP1	A	5	1
NCKAP1	10787	broad.mit.edu	37	2	183846046	183846046	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183846046C>A	uc002upc.2	-	13	1669	c.1267G>T	c.(1267-1269)GGA>TGA	p.G423*	NCKAP1_uc002upb.2_Nonsense_Mutation_p.G429*	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	423					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---	capture		Nonsense_Mutation	SNP	183846046	183846046	10620	2	C	A	A	23	23	NCKAP1	A	5	1
HIBCH	26275	broad.mit.edu	37	2	191117026	191117026	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191117026G>T	uc002uru.2	-	8	608	c.525C>A	c.(523-525)TTC>TTA	p.F175L	HIBCH_uc002urv.2_Missense_Mutation_p.F175L	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform	175					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)															---	---	---	---	capture		Missense_Mutation	SNP	191117026	191117026	7385	2	G	T	T	41	41	HIBCH	T	2	2
CCDC150	284992	broad.mit.edu	37	2	197541356	197541356	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197541356G>A	uc002utp.1	+	12	1476	c.1341G>A	c.(1339-1341)GAG>GAA	p.E447E	CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Silent_p.E115E	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	447	Potential.										0																		---	---	---	---	capture		Silent	SNP	197541356	197541356	2905	2	G	A	A	34	34	CCDC150	A	2	2
ANKRD44	91526	broad.mit.edu	37	2	197878250	197878250	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197878250G>T	uc002uua.1	-	18	1911	c.1834C>A	c.(1834-1836)CCA>ACA	p.P612T	ANKRD44_uc002utz.3_Missense_Mutation_p.P344T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	637	ANK 19.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---	capture		Missense_Mutation	SNP	197878250	197878250	680	2	G	T	T	43	43	ANKRD44	T	2	2
PLCL1	5334	broad.mit.edu	37	2	198948853	198948853	+	Silent	SNP	T	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198948853T>G	uc010fsp.2	+	2	903	c.612T>G	c.(610-612)GTT>GTG	p.V204V	PLCL1_uc002uuv.3_Silent_p.V125V	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	204	PH.|Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)													---	---	---	---	capture		Silent	SNP	198948853	198948853	12465	2	T	G	G	63	63	PLCL1	G	4	4
SGOL2	151246	broad.mit.edu	37	2	201435939	201435939	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201435939C>A	uc002uvw.2	+	7	983	c.870C>A	c.(868-870)CCC>CCA	p.P290P	SGOL2_uc010zhd.1_Silent_p.P290P|SGOL2_uc010zhe.1_Silent_p.P290P	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	290					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4																		---	---	---	---	capture		Silent	SNP	201435939	201435939	14708	2	C	A	A	24	24	SGOL2	A	2	2
AOX1	316	broad.mit.edu	37	2	201507519	201507519	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201507519G>C	uc002uvx.2	+	25	2943	c.2842G>C	c.(2842-2844)GAG>CAG	p.E948Q	AOX1_uc010zhf.1_Missense_Mutation_p.E504Q|AOX1_uc010fsu.2_Missense_Mutation_p.E314Q	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	948					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)													---	---	---	---	capture		Missense_Mutation	SNP	201507519	201507519	739	2	G	C	C	45	45	AOX1	C	3	3
MAP2	4133	broad.mit.edu	37	2	210557999	210557999	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210557999G>A	uc002vde.1	+	7	1353	c.1105G>A	c.(1105-1107)GAA>AAA	p.E369K	MAP2_uc002vdc.1_Missense_Mutation_p.E369K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E365K	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	369					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---	capture		Missense_Mutation	SNP	210557999	210557999	9618	2	G	A	A	45	45	MAP2	A	2	2
ERBB4	2066	broad.mit.edu	37	2	212251789	212251789	+	Missense_Mutation	SNP	T	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212251789T>G	uc002veg.1	-	27	3368	c.3270A>C	c.(3268-3270)GAA>GAC	p.E1090D	ERBB4_uc002veh.1_Missense_Mutation_p.E1074D|ERBB4_uc010zji.1_Missense_Mutation_p.E1080D|ERBB4_uc010zjj.1_Missense_Mutation_p.E1064D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1090	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	212251789	212251789	5402	2	T	G	G	56	56	ERBB4	G	4	4
FN1	2335	broad.mit.edu	37	2	216274800	216274800	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216274800G>T	uc002vfa.2	-	14	2245	c.1979C>A	c.(1978-1980)CCA>CAA	p.P660Q	FN1_uc002vfb.2_Missense_Mutation_p.P660Q|FN1_uc002vfc.2_Missense_Mutation_p.P660Q|FN1_uc002vfd.2_Missense_Mutation_p.P660Q|FN1_uc002vfe.2_Missense_Mutation_p.P660Q|FN1_uc002vff.2_Missense_Mutation_p.P660Q|FN1_uc002vfg.2_Missense_Mutation_p.P660Q|FN1_uc002vfh.2_Missense_Mutation_p.P660Q|FN1_uc002vfi.2_Missense_Mutation_p.P660Q|FN1_uc002vfj.2_Missense_Mutation_p.P660Q	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	660	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Missense_Mutation	SNP	216274800	216274800	6204	2	G	T	T	47	47	FN1	T	2	2
ZNF142	7701	broad.mit.edu	37	2	219507064	219507064	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219507064C>A	uc002vin.2	-	8	4611	c.4175G>T	c.(4174-4176)CGG>CTG	p.R1392L	ZNF142_uc002vil.2_Missense_Mutation_p.R1353L|ZNF142_uc010fvt.2_Missense_Mutation_p.R1229L|ZNF142_uc002vim.2_Missense_Mutation_p.R1229L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1392	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---	capture		Missense_Mutation	SNP	219507064	219507064	18322	2	C	A	A	23	23	ZNF142	A	1	1
CHRND	1144	broad.mit.edu	37	2	233399867	233399867	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233399867C>A	uc002vsw.2	+	12	1403	c.1399C>A	c.(1399-1401)CGC>AGC	p.R467S	CHRND_uc010zmg.1_Missense_Mutation_p.R452S|CHRND_uc010fyc.2_Missense_Mutation_p.R340S|CHRND_uc010zmh.1_Missense_Mutation_p.R273S	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	467	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)														---	---	---	---	capture		Missense_Mutation	SNP	233399867	233399867	3528	2	C	A	A	23	23	CHRND	A	1	1
CAPN10	11132	broad.mit.edu	37	2	241530373	241530373	+	Missense_Mutation	SNP	C	A	A	rs151024127	byFrequency	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241530373C>A	uc002vzk.1	+	3	599	c.415C>A	c.(415-417)CGC>AGC	p.R139S	CAPN10_uc010zoh.1_Missense_Mutation_p.R139S|CAPN10_uc002vzl.1_Missense_Mutation_p.R139S|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.P14P|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	139	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)														---	---	---	---	capture		Missense_Mutation	SNP	241530373	241530373	2740	2	C	A	A	23	23	CAPN10	A	1	1
STK25	10494	broad.mit.edu	37	2	242438115	242438115	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242438115G>T	uc002wbm.2	-	7	1127	c.856C>A	c.(856-858)CGC>AGC	p.R286S	STK25_uc002wbk.2_Missense_Mutation_p.R105S|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.R286S|STK25_uc002wbo.2_Missense_Mutation_p.R209S|STK25_uc010zos.1_Missense_Mutation_p.R192S|STK25_uc010zot.1_Missense_Mutation_p.R212S|STK25_uc002wbp.2_Missense_Mutation_p.R286S|STK25_uc010fzo.2_Missense_Mutation_p.R209S|STK25_uc010zou.1_Missense_Mutation_p.R192S|STK25_uc010zov.1_Missense_Mutation_p.R192S	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	286					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)														---	---	---	---	capture		Missense_Mutation	SNP	242438115	242438115	15814	2	G	T	T	39	39	STK25	T	1	1
ACSS1	84532	broad.mit.edu	37	20	25004238	25004238	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25004238C>A	uc002wub.2	-	4	1549	c.671G>T	c.(670-672)CGG>CTG	p.R224L	ACSS1_uc002wuc.2_Missense_Mutation_p.R224L|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Missense_Mutation_p.R141L	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	224					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	25004238	25004238	189	20	C	A	A	23	23	ACSS1	A	1	1
TRPC4AP	26133	broad.mit.edu	37	20	33623108	33623108	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33623108G>T	uc002xbk.2	-	8	903	c.869C>A	c.(868-870)GCC>GAC	p.A290D	TRPC4AP_uc010zuq.1_5'UTR|TRPC4AP_uc002xbl.2_Missense_Mutation_p.A290D|TRPC4AP_uc010zur.1_Missense_Mutation_p.A251D|TRPC4AP_uc002xbm.1_Missense_Mutation_p.A290D	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	290	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---	capture		Missense_Mutation	SNP	33623108	33623108	17132	20	G	T	T	42	42	TRPC4AP	T	2	2
TOP1	7150	broad.mit.edu	37	20	39750645	39750645	+	Splice_Site	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39750645G>T	uc002xjl.2	+	20	2292	c.2046_splice	c.e20-1	p.K682_splice	uc002xjn.1_Intron	NM_003286	NP_003277			DNA topoisomerase I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---	capture		Splice_Site	SNP	39750645	39750645	16905	20	G	T	T	35	35	TOP1	T	5	2
PTPRT	11122	broad.mit.edu	37	20	40710638	40710638	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40710638C>A	uc002xkg.2	-	30	4340	c.4156G>T	c.(4156-4158)GGA>TGA	p.G1386*	PTPRT_uc010ggj.2_Nonsense_Mutation_p.G1405*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.G589*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1386	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---	capture		Nonsense_Mutation	SNP	40710638	40710638	13270	20	C	A	A	21	21	PTPRT	A	5	2
PTPRT	11122	broad.mit.edu	37	20	40713348	40713348	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40713348C>A	uc002xkg.2	-	29	4294	c.4110G>T	c.(4108-4110)AGG>AGT	p.R1370S	PTPRT_uc010ggj.2_Missense_Mutation_p.R1389S|PTPRT_uc010ggi.2_Missense_Mutation_p.R573S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1370	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---	capture		Missense_Mutation	SNP	40713348	40713348	13270	20	C	A	A	22	22	PTPRT	A	2	2
PTK6	5753	broad.mit.edu	37	20	62165036	62165036	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62165036G>T	uc002yfg.2	-	4	578	c.538C>A	c.(538-540)CAT>AAT	p.H180N	PTK6_uc011aay.1_Missense_Mutation_p.H79N|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	180						cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)															---	---	---	---	capture		Missense_Mutation	SNP	62165036	62165036	13219	20	G	T	T	47	47	PTK6	T	2	2
ZNF512B	57473	broad.mit.edu	37	20	62598877	62598877	+	Splice_Site	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62598877C>A	uc002yhl.1	-	3	176	c.122_splice	c.e3-1	p.G41_splice		NM_020713	NP_065764			zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---	capture		Splice_Site	SNP	62598877	62598877	18551	20	C	A	A	24	24	ZNF512B	A	5	2
NPBWR2	2832	broad.mit.edu	37	20	62737703	62737703	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62737703C>T	uc011abt.1	-	1	482	c.482G>A	c.(481-483)CGG>CAG	p.R161Q		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	161	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)																	---	---	---	---	capture		Missense_Mutation	SNP	62737703	62737703	10973	20	C	T	T	23	23	NPBWR2	T	1	1
TPTE	7179	broad.mit.edu	37	21	10920107	10920107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10920107G>A	uc002yip.1	-	19	1515	c.1147C>T	c.(1147-1149)CAG>TAG	p.Q383*	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.Q365*|TPTE_uc002yir.1_Nonsense_Mutation_p.Q345*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Q245*	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	383	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---	capture		Nonsense_Mutation	SNP	10920107	10920107	16974	21	G	A	A	45	45	TPTE	A	5	2
GRIK1	2897	broad.mit.edu	37	21	30927521	30927521	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30927521G>T	uc002yno.1	-	16	2923	c.2459C>A	c.(2458-2460)CCC>CAC	p.P820H	GRIK1_uc002ynn.2_Missense_Mutation_p.P805H|GRIK1_uc011acs.1_Missense_Mutation_p.P820H|GRIK1_uc011act.1_Missense_Mutation_p.P681H	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	820	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)													---	---	---	---	capture		Missense_Mutation	SNP	30927521	30927521	7052	21	G	T	T	43	43	GRIK1	T	2	2
KRTAP26-1	388818	broad.mit.edu	37	21	31692330	31692330	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31692330C>A	uc002ynw.2	-	1	278	c.24G>T	c.(22-24)TCG>TCT	p.S8S		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	8						intermediate filament				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	31692330	31692330	8865	21	C	A	A	23	23	KRTAP26-1	A	1	1
SYNJ1	8867	broad.mit.edu	37	21	34011286	34011286	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34011286G>T	uc002yqh.2	-	31	3964	c.3964C>A	c.(3964-3966)CCA>ACA	p.P1322T	SYNJ1_uc011ads.1_Missense_Mutation_p.P1236T|SYNJ1_uc002yqf.2_Missense_Mutation_p.P1267T|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1236T|SYNJ1_uc002yqi.2_Missense_Mutation_p.P1322T|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1283	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	34011286	34011286	15973	21	G	T	T	43	43	SYNJ1	T	2	2
DSCR3	10311	broad.mit.edu	37	21	38600600	38600600	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38600600C>A	uc002ywf.1	-	7	821	c.582G>T	c.(580-582)ACG>ACT	p.T194T	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Silent_p.T152T|DSCR3_uc010gnl.2_Silent_p.T167T|DSCR3_uc011aeg.1_Silent_p.T117T|DSCR3_uc011aeh.1_Silent_p.T69T	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	194					vacuolar transport	nucleus|retromer complex					0																		---	---	---	---	capture		Silent	SNP	38600600	38600600	4955	21	C	A	A	23	23	DSCR3	A	1	1
BRWD1	54014	broad.mit.edu	37	21	40570785	40570785	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40570785G>T	uc002yxk.1	-	40	5696	c.5557C>A	c.(5557-5559)CCT>ACT	p.P1853T	BRWD1_uc010goc.1_Missense_Mutation_p.P496T|BRWD1_uc002yxl.2_Missense_Mutation_p.P1853T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	40570785	40570785	1556	21	G	T	T	43	43	BRWD1	T	2	2
PRDM15	63977	broad.mit.edu	37	21	43221433	43221433	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43221433C>A	uc002yzq.1	-	31	4602	c.4491G>T	c.(4489-4491)GCG>GCT	p.A1497A	PRDM15_uc002yzo.2_Silent_p.A1168A|PRDM15_uc002yzp.2_Silent_p.A1188A|PRDM15_uc002yzr.1_Silent_p.A1188A	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	43221433	43221433	12898	21	C	A	A	23	23	PRDM15	A	1	1
C21orf57	54059	broad.mit.edu	37	21	47707005	47707005	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47707005C>A	uc002ziv.2	+	2	607	c.178C>A	c.(178-180)CCA>ACA	p.P60T	C21orf57_uc002zit.1_Missense_Mutation_p.P60T|C21orf57_uc002ziu.1_Missense_Mutation_p.P60T|C21orf57_uc002ziw.2_Intron|C21orf57_uc002zix.2_Missense_Mutation_p.P60T|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Missense_Mutation_p.P60T|MCM3AP_uc002zir.1_5'Flank	NM_058181	NP_478061	P58557	YBEY_HUMAN	hypothetical protein LOC54059 isoform 1	60							metal ion binding|metalloendopeptidase activity				0	Breast(49;0.112)			Colorectal(79;0.236)														---	---	---	---	capture		Missense_Mutation	SNP	47707005	47707005	2208	21	C	A	A	22	22	C21orf57	A	2	2
DGCR8	54487	broad.mit.edu	37	22	20077596	20077596	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20077596G>T	uc002zri.2	+	5	1471	c.1121G>T	c.(1120-1122)GGG>GTG	p.G374V	DGCR8_uc010grz.2_Missense_Mutation_p.G374V|DGCR8_uc002zrj.2_Missense_Mutation_p.G17V	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	374	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)																	---	---	---	---	capture		Missense_Mutation	SNP	20077596	20077596	4643	22	G	T	T	43	43	DGCR8	T	2	2
CRKL	1399	broad.mit.edu	37	22	21272442	21272442	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21272442G>T	uc002ztf.2	+	1	729	c.220G>T	c.(220-222)GGG>TGG	p.G74W	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	74	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)															---	---	---	---	capture		Missense_Mutation	SNP	21272442	21272442	4024	22	G	T	T	39	39	CRKL	T	1	1
VPREB1	7441	broad.mit.edu	37	22	22599440	22599440	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22599440G>A	uc002zvx.1	+	2	155	c.129G>A	c.(127-129)CTG>CTA	p.L43L	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	43	Ig-like V-type.|Complementarity-determining-1.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)														---	---	---	---	capture		Silent	SNP	22599440	22599440	17753	22	G	A	A	45	45	VPREB1	A	2	2
SLC2A11	66035	broad.mit.edu	37	22	24210776	24210776	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24210776G>T	uc002zyn.3	+	3	328	c.229G>T	c.(229-231)GGA>TGA	p.G77*	SLC2A11_uc002zyl.1_Nonsense_Mutation_p.G84*|SLC2A11_uc002zym.3_Nonsense_Mutation_p.G84*|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Nonsense_Mutation_p.G84*|SLC2A11_uc011ajd.1_Nonsense_Mutation_p.G71*|SLC2A11_uc002zyp.3_Nonsense_Mutation_p.G80*	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	77	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	24210776	24210776	15037	22	G	T	T	43	43	SLC2A11	T	5	2
C22orf28	51493	broad.mit.edu	37	22	32802670	32802670	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32802670G>T	uc003amm.2	-	4	450	c.319C>A	c.(319-321)CCT>ACT	p.P107T	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	107					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	32802670	32802670	2221	22	G	T	T	43	43	C22orf28	T	2	2
RBM9	23543	broad.mit.edu	37	22	36177730	36177730	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36177730C>A	uc003aon.3	-	4	638	c.526G>T	c.(526-528)GAG>TAG	p.E176*	RBM9_uc003aog.3_Nonsense_Mutation_p.E86*|RBM9_uc003aol.3_Nonsense_Mutation_p.E105*|RBM9_uc003aoj.3_Nonsense_Mutation_p.E105*|RBM9_uc003aok.3_Nonsense_Mutation_p.E106*|RBM9_uc003aoh.3_Nonsense_Mutation_p.E105*|RBM9_uc003aom.3_Nonsense_Mutation_p.E105*|RBM9_uc010gwu.2_Nonsense_Mutation_p.E85*|RBM9_uc003aoo.3_Nonsense_Mutation_p.E175*|RBM9_uc003aop.3_Nonsense_Mutation_p.E105*	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	115					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	36177730	36177730	13609	22	C	A	A	32	32	RBM9	A	5	2
CARD10	29775	broad.mit.edu	37	22	37902371	37902371	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37902371C>A	uc003asx.1	-	7	1214	c.1211G>T	c.(1210-1212)CGG>CTG	p.R404L	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Missense_Mutation_p.R118L|CARD10_uc003asy.1_Missense_Mutation_p.R404L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	404	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)																	---	---	---	---	capture		Missense_Mutation	SNP	37902371	37902371	2763	22	C	A	A	23	23	CARD10	A	1	1
MICALL1	85377	broad.mit.edu	37	22	38333762	38333762	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38333762G>T	uc003aui.2	+	15	2517	c.2433G>T	c.(2431-2433)GAG>GAT	p.E811D		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	811	Potential.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)																	---	---	---	---	capture		Missense_Mutation	SNP	38333762	38333762	9963	22	G	T	T	35	35	MICALL1	T	2	2
DMC1	11144	broad.mit.edu	37	22	38934604	38934604	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38934604C>A	uc003avz.1	-	10	775	c.600G>T	c.(598-600)ATG>ATT	p.M200I	DMC1_uc011anv.1_Missense_Mutation_p.M145I	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	200					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)												Homologous_recombination					---	---	---	---	capture		Missense_Mutation	SNP	38934604	38934604	4759	22	C	A	A	21	21	DMC1	A	2	2
ATF4	468	broad.mit.edu	37	22	39917956	39917956	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39917956C>A	uc003axz.2	+	3	685	c.405C>A	c.(403-405)CCC>CCA	p.P135P	ATF4_uc011aol.1_Silent_p.P47P|ATF4_uc003aya.2_Silent_p.P135P	NM_182810	NP_877962	P18848	ATF4_HUMAN	activating transcription factor 4	135					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.04)																	---	---	---	---	capture		Silent	SNP	39917956	39917956	1101	22	C	A	A	22	22	ATF4	A	2	2
MCHR1	2847	broad.mit.edu	37	22	41077580	41077580	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41077580C>T	uc003ayz.2	+	2	1185	c.917C>T	c.(916-918)TCC>TTC	p.S306F	MCHR1_uc003aza.2_Missense_Mutation_p.S195F|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	306	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41077580	41077580	9771	22	C	T	T	30	30	MCHR1	T	2	2
CRELD2	79174	broad.mit.edu	37	22	50318061	50318061	+	Nonsense_Mutation	SNP	G	T	T	rs113168785	byFrequency;by1000genomes	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50318061G>T	uc003bja.2	+	8	961	c.826G>T	c.(826-828)GAG>TAG	p.E276*	CRELD2_uc010haj.2_Nonsense_Mutation_p.E276*|CRELD2_uc010hal.2_Nonsense_Mutation_p.E325*|CRELD2_uc010hak.2_Nonsense_Mutation_p.E248*|CRELD2_uc010ham.2_Intron	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	276	FU 2.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Nonsense_Mutation	SNP	50318061	50318061	4006	22	G	T	T	33	33	CRELD2	T	5	2
SELO	83642	broad.mit.edu	37	22	50649059	50649059	+	Splice_Site	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50649059G>T	uc011arr.1	+	5	1129	c.1071_splice	c.e5-1	p.R357_splice	SELO_uc010hap.2_Splice_Site_p.R168_splice|SELO_uc003bjy.2_Splice_Site_p.R37_splice|SELO_uc003bjz.2_Splice_Site_p.R37_splice	NM_031454	NP_113642			selenoprotein O												0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)												OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Splice_Site	SNP	50649059	50649059	14504	22	G	T	T	35	35	SELO	T	5	2
MAPK8IP2	23542	broad.mit.edu	37	22	51040245	51040245	+	Silent	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51040245A>G	uc003bmx.2	+	2	210	c.93A>G	c.(91-93)GAA>GAG	p.E31E	MAPK8IP2_uc003bmy.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	31	Asp/Glu-rich (acidic).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Silent	SNP	51040245	51040245	9668	22	A	G	G	4	4	MAPK8IP2	G	4	4
THUMPD3	25917	broad.mit.edu	37	3	9406810	9406810	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9406810C>A	uc003bro.3	+	2	206	c.58C>A	c.(58-60)CAG>AAG	p.Q20K	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.Q20K	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	20							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	9406810	9406810	16412	3	C	A	A	21	21	THUMPD3	A	2	2
SLC6A11	6538	broad.mit.edu	37	3	10861224	10861224	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10861224G>T	uc003bvz.2	+	2	365	c.331G>T	c.(331-333)GGG>TGG	p.G111W	SLC6A11_uc003bvy.1_Missense_Mutation_p.G111W	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	111					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)														---	---	---	---	capture		Missense_Mutation	SNP	10861224	10861224	15171	3	G	T	T	43	43	SLC6A11	T	2	2
ZFYVE20	64145	broad.mit.edu	37	3	15116107	15116107	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15116107C>T	uc003bzm.1	-	14	2151	c.1537G>A	c.(1537-1539)GAG>AAG	p.E513K	ZFYVE20_uc010hek.1_Missense_Mutation_p.E513K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	513	UIM.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	15116107	15116107	18256	3	C	T	T	29	29	ZFYVE20	T	2	2
VILL	50853	broad.mit.edu	37	3	38038999	38038999	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38038999G>T	uc003chj.2	+	7	873	c.587G>T	c.(586-588)CGG>CTG	p.R196L	VILL_uc003chk.1_Missense_Mutation_p.R196L|VILL_uc003chl.2_Missense_Mutation_p.R196L|VILL_uc010hgu.2_Missense_Mutation_p.R26L	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	196					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---	capture		Missense_Mutation	SNP	38038999	38038999	17732	3	G	T	T	39	39	VILL	T	1	1
FYCO1	79443	broad.mit.edu	37	3	46009591	46009591	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46009591C>A	uc003cpb.3	-	8	1441	c.1235G>T	c.(1234-1236)AGG>ATG	p.R412M	FYCO1_uc011bal.1_Missense_Mutation_p.R412M	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	412	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)														---	---	---	---	capture		Missense_Mutation	SNP	46009591	46009591	6376	3	C	A	A	24	24	FYCO1	A	2	2
MST1R	4486	broad.mit.edu	37	3	49929248	49929248	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49929248C>A	uc003cxy.3	-	15	3559	c.3295G>T	c.(3295-3297)GGA>TGA	p.G1099*	MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1099	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)														---	---	---	---	capture		Nonsense_Mutation	SNP	49929248	49929248	10284	3	C	A	A	23	23	MST1R	A	5	1
TMEM115	11070	broad.mit.edu	37	3	50392838	50392838	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50392838G>T	uc003dan.1	-	2	1437	c.992C>A	c.(991-993)CCA>CAA	p.P331Q		NM_007024	NP_008955	Q12893	TM115_HUMAN	PL6 protein	331					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)														---	---	---	---	capture		Missense_Mutation	SNP	50392838	50392838	16560	3	G	T	T	47	47	TMEM115	T	2	2
CACNA2D2	9254	broad.mit.edu	37	3	50413452	50413452	+	Missense_Mutation	SNP	C	A	A	rs141415086		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50413452C>A	uc003daq.2	-	19	1753	c.1715G>T	c.(1714-1716)CGG>CTG	p.R572L	CACNA2D2_uc003dap.2_Missense_Mutation_p.R572L	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	572	Cache.|Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)													---	---	---	---	capture		Missense_Mutation	SNP	50413452	50413452	2665	3	C	A	A	23	23	CACNA2D2	A	1	1
DNAH1	25981	broad.mit.edu	37	3	52397071	52397071	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52397071C>A	uc011bef.1	+	32	5416	c.5155C>A	c.(5155-5157)CTC>ATC	p.L1719I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1719	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---	capture		Missense_Mutation	SNP	52397071	52397071	4779	3	C	A	A	24	24	DNAH1	A	2	2
CADPS	8618	broad.mit.edu	37	3	62452069	62452069	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62452069A>G	uc003dll.2	-	25	3857	c.3497T>C	c.(3496-3498)ATA>ACA	p.I1166T	CADPS_uc003dlj.1_Missense_Mutation_p.I121T|CADPS_uc003dlk.1_Missense_Mutation_p.I614T|CADPS_uc003dlm.2_Missense_Mutation_p.I1127T|CADPS_uc003dln.2_Missense_Mutation_p.I1087T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1166					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)														---	---	---	---	capture		Missense_Mutation	SNP	62452069	62452069	2686	3	A	G	G	16	16	CADPS	G	4	4
SUCLG2	8801	broad.mit.edu	37	3	67426195	67426195	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67426195C>A	uc003dna.3	-	11	1300	c.1272G>T	c.(1270-1272)AAG>AAT	p.K424N	SUCLG2_uc010hob.2_Missense_Mutation_p.K171N	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	424					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)													---	---	---	---	capture		Missense_Mutation	SNP	67426195	67426195	15885	3	C	A	A	24	24	SUCLG2	A	2	2
GXYLT2	727936	broad.mit.edu	37	3	72971411	72971411	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:72971411C>T	uc003dpg.2	+	3	525	c.525C>T	c.(523-525)ATC>ATT	p.I175I		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	175	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	72971411	72971411	7184	3	C	T	T	29	29	GXYLT2	T	2	2
EPHA3	2042	broad.mit.edu	37	3	89521662	89521662	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89521662C>T	uc003dqy.2	+	16	2964	c.2739C>T	c.(2737-2739)TTC>TTT	p.F913F	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	913	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---	capture		Silent	SNP	89521662	89521662	5361	3	C	T	T	30	30	EPHA3	T	2	2
EPHA6	285220	broad.mit.edu	37	3	96706414	96706414	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96706414G>T	uc010how.1	+	3	734	c.691G>T	c.(691-693)GGA>TGA	p.G231*	EPHA6_uc003drp.1_Nonsense_Mutation_p.G231*	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	136	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---	capture		Nonsense_Mutation	SNP	96706414	96706414	5364	3	G	T	T	39	39	EPHA6	T	5	1
BBX	56987	broad.mit.edu	37	3	107429440	107429440	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107429440G>T	uc010hpr.2	+	4	460	c.133G>T	c.(133-135)GAG>TAG	p.E45*	BBX_uc003dwk.3_Nonsense_Mutation_p.E45*|BBX_uc003dwl.3_Nonsense_Mutation_p.E45*|BBX_uc010hps.1_Nonsense_Mutation_p.E66*|BBX_uc003dwm.3_Nonsense_Mutation_p.E45*	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	45	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---	capture		Nonsense_Mutation	SNP	107429440	107429440	1364	3	G	T	T	33	33	BBX	T	5	2
GTPBP8	29083	broad.mit.edu	37	3	112710030	112710030	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112710030G>T	uc003dzn.2	+	1	231	c.184G>T	c.(184-186)GGG>TGG	p.G62W	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.G62W	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	62					barrier septum formation		GTP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	112710030	112710030	7164	3	G	T	T	39	39	GTPBP8	T	1	1
FBXO40	51725	broad.mit.edu	37	3	121340279	121340279	+	Splice_Site	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121340279G>T	uc003eeg.2	+	3	214	c.4_splice	c.e3-1	p.G2_splice		NM_016298	NP_057382			F-box protein 40						muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---	capture		Splice_Site	SNP	121340279	121340279	5986	3	G	T	T	35	35	FBXO40	T	5	2
CASR	846	broad.mit.edu	37	3	121973103	121973103	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121973103G>A	uc003eev.3	+	2	439	c.67G>A	c.(67-69)GAC>AAC	p.D23N	CASR_uc003eew.3_Missense_Mutation_p.D23N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	23	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---	capture		Missense_Mutation	SNP	121973103	121973103	2801	3	G	A	A	33	33	CASR	A	2	2
CASR	846	broad.mit.edu	37	3	122000996	122000996	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122000996G>T	uc003eev.3	+	6	2017	c.1645G>T	c.(1645-1647)GGG>TGG	p.G549W	CASR_uc003eew.3_Missense_Mutation_p.G559W	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	549	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---	capture		Missense_Mutation	SNP	122000996	122000996	2801	3	G	T	T	35	35	CASR	T	2	2
CASR	846	broad.mit.edu	37	3	122002638	122002638	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122002638G>T	uc003eev.3	+	7	2209	c.1837G>T	c.(1837-1839)GGG>TGG	p.G613W	CASR_uc003eew.3_Missense_Mutation_p.G623W	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	613	Helical; Name=1; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---	capture		Missense_Mutation	SNP	122002638	122002638	2801	3	G	T	T	47	47	CASR	T	2	2
CCRL1	51554	broad.mit.edu	37	3	132319889	132319889	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132319889G>T	uc003eow.2	+	2	731	c.648G>T	c.(646-648)ATG>ATT	p.M216I	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.M216I	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	216	Helical; Name=5; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	132319889	132319889	3076	3	G	T	T	47	47	CCRL1	T	2	2
TOPBP1	11073	broad.mit.edu	37	3	133327807	133327807	+	Splice_Site	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133327807C>A	uc003eps.2	-	26	4306	c.4174_splice	c.e26-1	p.G1392_splice		NM_007027	NP_008958			topoisomerase (DNA) II binding protein 1						DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7													Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Splice_Site	SNP	133327807	133327807	16911	3	C	A	A	24	24	TOPBP1	A	5	2
TOPBP1	11073	broad.mit.edu	37	3	133362168	133362168	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133362168G>A	uc003eps.2	-	12	2029	c.1897C>T	c.(1897-1899)CTC>TTC	p.L633F		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	633	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7													Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Missense_Mutation	SNP	133362168	133362168	16911	3	G	A	A	33	33	TOPBP1	A	2	2
DBR1	51163	broad.mit.edu	37	3	137892381	137892381	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137892381G>T	uc003erv.2	-	2	421	c.285C>A	c.(283-285)CCC>CCA	p.P95P	DBR1_uc003eru.2_Silent_p.P44P	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	95						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0																		---	---	---	---	capture		Silent	SNP	137892381	137892381	4428	3	G	T	T	35	35	DBR1	T	2	2
LRRC31	79782	broad.mit.edu	37	3	169587458	169587458	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169587458G>T	uc003fgc.1	-	1	215	c.138C>A	c.(136-138)CCC>CCA	p.P46P	LRRC31_uc010hwp.1_Silent_p.P46P	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	46										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)															---	---	---	---	capture		Silent	SNP	169587458	169587458	9361	3	G	T	T	47	47	LRRC31	T	2	2
MAP3K13	9175	broad.mit.edu	37	3	185191067	185191067	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185191067C>A	uc010hyf.2	+	12	2214	c.1948C>A	c.(1948-1950)CAG>AAG	p.Q650K	MAP3K13_uc011brt.1_Missense_Mutation_p.Q443K|MAP3K13_uc011bru.1_Missense_Mutation_p.Q506K|MAP3K13_uc003fpi.2_Missense_Mutation_p.Q650K|MAP3K13_uc010hyg.2_Missense_Mutation_p.Q340K	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	650					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)															---	---	---	---	capture		Missense_Mutation	SNP	185191067	185191067	9630	3	C	A	A	21	21	MAP3K13	A	2	2
RFC4	5984	broad.mit.edu	37	3	186515382	186515382	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186515382C>A	uc003fqz.2	-	4	455	c.232G>T	c.(232-234)GGA>TGA	p.G78*	RFC4_uc011bsc.1_Nonsense_Mutation_p.G78*|RFC4_uc011bsd.1_Nonsense_Mutation_p.G78*	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	78	ATP (Potential).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)														---	---	---	---	capture		Nonsense_Mutation	SNP	186515382	186515382	13718	3	C	A	A	23	23	RFC4	A	5	1
OSTalpha	200931	broad.mit.edu	37	3	195955766	195955766	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195955766C>A	uc003fwd.2	+	6	809	c.608C>A	c.(607-609)CCC>CAC	p.P203H	OSTalpha_uc010iac.1_Missense_Mutation_p.P87H|OSTalpha_uc003fwe.2_Missense_Mutation_p.P70H	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	organic solute transporter alpha	203						integral to membrane|plasma membrane	transporter activity			ovary(1)	1	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)														---	---	---	---	capture		Missense_Mutation	SNP	195955766	195955766	11712	3	C	A	A	22	22	OSTalpha	A	2	2
LETM1	3954	broad.mit.edu	37	4	1817469	1817469	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1817469G>T	uc003gdv.2	-	13	2289	c.1992C>A	c.(1990-1992)CCC>CCA	p.P664P		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	664	Mitochondrial matrix (Potential).|EF-hand.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)															---	---	---	---	capture		Silent	SNP	1817469	1817469	9058	4	G	T	T	39	39	LETM1	T	1	1
WHSC1	7468	broad.mit.edu	37	4	1962786	1962786	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1962786G>T	uc003gdz.3	+	18	3456	c.3280G>T	c.(3280-3282)GGG>TGG	p.G1094W	WHSC1_uc003geb.3_Missense_Mutation_p.G1094W|WHSC1_uc003gec.3_Missense_Mutation_p.G1094W|WHSC1_uc003ged.3_Missense_Mutation_p.G1094W|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.G313W|WHSC1_uc011bvh.1_Missense_Mutation_p.G155W|WHSC1_uc010icf.2_Missense_Mutation_p.G442W	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1094	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---	capture		Missense_Mutation	SNP	1962786	1962786	17936	4	G	T	T	47	47	WHSC1	T	2	2
BOD1L	259282	broad.mit.edu	37	4	13604824	13604824	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13604824C>G	uc003gmz.1	-	10	3817	c.3700G>C	c.(3700-3702)GAT>CAT	p.D1234H	BOD1L_uc010idr.1_Missense_Mutation_p.D571H	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1234							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	13604824	13604824	1508	4	C	G	G	32	32	BOD1L	G	3	3
LDB2	9079	broad.mit.edu	37	4	16900050	16900050	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16900050C>G	uc003goz.2	-	1	375	c.59G>C	c.(58-60)AGG>ACG	p.R20T	LDB2_uc003gpa.2_Missense_Mutation_p.R20T|LDB2_uc003gpb.2_Missense_Mutation_p.R20T|LDB2_uc011bxh.1_Missense_Mutation_p.R20T|LDB2_uc010iee.2_Missense_Mutation_p.R20T	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	20							LIM domain binding|transcription cofactor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	16900050	16900050	9020	4	C	G	G	24	24	LDB2	G	3	3
CORIN	10699	broad.mit.edu	37	4	47667122	47667122	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47667122G>T	uc003gxm.2	-	11	1609	c.1516C>A	c.(1516-1518)CTC>ATC	p.L506I	CORIN_uc011bzf.1_Missense_Mutation_p.L367I|CORIN_uc011bzg.1_Missense_Mutation_p.L439I|CORIN_uc011bzh.1_Missense_Mutation_p.L469I|CORIN_uc011bzi.1_Missense_Mutation_p.L469I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	506	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47667122	47667122	3890	4	G	T	T	35	35	CORIN	T	2	2
MUC7	4589	broad.mit.edu	37	4	71347174	71347174	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71347174C>A	uc011cat.1	+	4	1001	c.713C>A	c.(712-714)CCA>CAA	p.P238Q	MUC7_uc011cau.1_Missense_Mutation_p.P238Q|MUC7_uc003hfj.2_Missense_Mutation_p.P238Q|uc011cav.1_Intron	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	238	Thr-rich.|4.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)															---	---	---	---	capture		Missense_Mutation	SNP	71347174	71347174	10375	4	C	A	A	21	21	MUC7	A	2	2
SLC4A4	8671	broad.mit.edu	37	4	72425858	72425858	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72425858C>A	uc003hfy.2	+	23	3103	c.2986C>A	c.(2986-2988)CAG>AAG	p.Q996K	SLC4A4_uc010iic.2_Missense_Mutation_p.Q996K|SLC4A4_uc010iib.2_Missense_Mutation_p.Q912K|SLC4A4_uc003hfz.2_Missense_Mutation_p.Q996K|SLC4A4_uc003hgc.3_Missense_Mutation_p.Q952K|SLC4A4_uc010iid.2_Missense_Mutation_p.Q200K	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	996	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---	capture		Missense_Mutation	SNP	72425858	72425858	15153	4	C	A	A	21	21	SLC4A4	A	2	2
AFP	174	broad.mit.edu	37	4	74301996	74301996	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74301996C>T	uc003hgz.1	+	1	64	c.17C>T	c.(16-18)TCA>TTA	p.S6L	AFP_uc003hha.1_Missense_Mutation_p.S6L|AFP_uc003hgy.1_Intron	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	6					transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											Alpha-Fetoprotein_Hereditary_Persistence_of				---	---	---	---	capture		Missense_Mutation	SNP	74301996	74301996	364	4	C	T	T	29	29	AFP	T	2	2
AFP	174	broad.mit.edu	37	4	74302032	74302032	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74302032C>G	uc003hgz.1	+	1	100	c.53C>G	c.(52-54)TCC>TGC	p.S18C	AFP_uc003hha.1_Missense_Mutation_p.S18C|AFP_uc003hgy.1_Intron	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	18					transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											Alpha-Fetoprotein_Hereditary_Persistence_of				---	---	---	---	capture		Missense_Mutation	SNP	74302032	74302032	364	4	C	G	G	30	30	AFP	G	3	3
AREG	374	broad.mit.edu	37	4	75312365	75312365	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75312365C>T	uc011cbl.1	+	2	386	c.176C>T	c.(175-177)TCA>TTA	p.S59L		NM_001657	NP_001648	P15514	AREG_HUMAN	amphiregulin preproprotein	59					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity				0			Lung(101;0.196)															---	---	---	---	capture		Missense_Mutation	SNP	75312365	75312365	854	4	C	T	T	29	29	AREG	T	2	2
PRKG2	5593	broad.mit.edu	37	4	82064010	82064010	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82064010G>T	uc003hmh.2	-	10	1359	c.1345C>A	c.(1345-1347)CCA>ACA	p.P449T	PRKG2_uc011ccf.1_Missense_Mutation_p.P29T|PRKG2_uc011ccg.1_Missense_Mutation_p.P29T|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	449					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	82064010	82064010	12966	4	G	T	T	43	43	PRKG2	T	2	2
COPS4	51138	broad.mit.edu	37	4	83996472	83996472	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83996472G>T	uc003hoa.2	+	10	1249	c.1110G>T	c.(1108-1110)TGG>TGT	p.W370C	COPS4_uc003hob.2_Nonsense_Mutation_p.G420*|COPS4_uc010ijw.2_Missense_Mutation_p.W402C|COPS4_uc010ijx.2_Missense_Mutation_p.G342V	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	370					cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)																---	---	---	---	capture		Missense_Mutation	SNP	83996472	83996472	3873	4	G	T	T	43	43	COPS4	T	2	2
PTPN13	5783	broad.mit.edu	37	4	87690984	87690984	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87690984G>A	uc003hpz.2	+	29	5032	c.4552G>A	c.(4552-4554)GAA>AAA	p.E1518K	PTPN13_uc003hpy.2_Missense_Mutation_p.E1523K|PTPN13_uc003hqa.2_Missense_Mutation_p.E1499K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1327K|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1518	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---	capture		Missense_Mutation	SNP	87690984	87690984	13237	4	G	A	A	33	33	PTPN13	A	2	2
AFF1	4299	broad.mit.edu	37	4	87967424	87967424	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87967424G>T	uc003hqj.3	+	2	531	c.124G>T	c.(124-126)GGA>TGA	p.G42*	AFF1_uc011ccx.1_Intron|AFF1_uc003hqh.1_Nonsense_Mutation_p.G49*|AFF1_uc011ccy.1_Nonsense_Mutation_p.G49*|AFF1_uc011ccz.1_Nonsense_Mutation_p.G49*|AFF1_uc003hqk.3_Nonsense_Mutation_p.G42*|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	42						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---	capture		Nonsense_Mutation	SNP	87967424	87967424	357	4	G	T	T	47	47	AFF1	T	5	2
HERC6	55008	broad.mit.edu	37	4	89317227	89317227	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89317227C>A	uc011cdi.1	+	6	1003	c.820C>A	c.(820-822)CCT>ACT	p.P274T	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.P274T|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	274	RCC1 5.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)														---	---	---	---	capture		Missense_Mutation	SNP	89317227	89317227	7345	4	C	A	A	30	30	HERC6	A	2	2
TBCK	93627	broad.mit.edu	37	4	107229955	107229955	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107229955G>T	uc010ilv.2	-	2	528	c.163C>A	c.(163-165)CAG>AAG	p.Q55K	TBCK_uc003hye.2_Missense_Mutation_p.Q55K|TBCK_uc003hyc.2_Missense_Mutation_p.Q55K|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.Q55K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	55	Protein kinase.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	107229955	107229955	16162	4	G	T	T	47	47	TBCK	T	2	2
C4orf31	79625	broad.mit.edu	37	4	121966917	121966917	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121966917C>T	uc003idq.1	-	2	603	c.76G>A	c.(76-78)GAT>AAT	p.D26N		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	26											0																		---	---	---	---	capture		Missense_Mutation	SNP	121966917	121966917	2356	4	C	T	T	30	30	C4orf31	T	2	2
BBS7	55212	broad.mit.edu	37	4	122782823	122782823	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122782823C>A	uc003ied.2	-	4	351	c.177G>T	c.(175-177)AAG>AAT	p.K59N	BBS7_uc003iee.1_Missense_Mutation_p.K59N|BBS7_uc010inq.1_Missense_Mutation_p.K15N	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	59					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	122782823	122782823	1362	4	C	A	A	32	32	BBS7	A	2	2
KIAA1109	84162	broad.mit.edu	37	4	123246404	123246404	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123246404G>A	uc003ieh.2	+	63	10969	c.10924G>A	c.(10924-10926)GAA>AAA	p.E3642K	KIAA1109_uc003iel.1_Missense_Mutation_p.E1577K|KIAA1109_uc003iem.2_Missense_Mutation_p.E12K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3642					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	123246404	123246404	8516	4	G	A	A	45	45	KIAA1109	A	2	2
FAT4	79633	broad.mit.edu	37	4	126370423	126370423	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126370423C>A	uc003ifj.3	+	9	8252	c.8252C>A	c.(8251-8253)CCG>CAG	p.P2751Q	FAT4_uc011cgp.1_Missense_Mutation_p.P1049Q|FAT4_uc003ifi.1_Missense_Mutation_p.P229Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2751	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---	capture		Missense_Mutation	SNP	126370423	126370423	5928	4	C	A	A	23	23	FAT4	A	1	1
FBXO8	26269	broad.mit.edu	37	4	175160165	175160165	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175160165C>A	uc003itp.2	-	5	1602	c.752G>T	c.(751-753)CGA>CTA	p.R251L	FBXO8_uc003itq.2_Missense_Mutation_p.R210L	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	251	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	175160165	175160165	5998	4	C	A	A	31	31	FBXO8	A	1	1
ADAM29	11086	broad.mit.edu	37	4	175899083	175899083	+	Nonsense_Mutation	SNP	C	T	T	rs141115697		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175899083C>T	uc003iuc.2	+	5	3077	c.2407C>T	c.(2407-2409)CAG>TAG	p.Q803*	ADAM29_uc003iud.2_Nonsense_Mutation_p.Q803*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q803*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q803*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	803	8.|Cytoplasmic (Potential).|9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)														---	---	---	---	capture		Nonsense_Mutation	SNP	175899083	175899083	248	4	C	T	T	21	21	ADAM29	T	5	2
ADAM29	11086	broad.mit.edu	37	4	175899130	175899130	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175899130G>A	uc003iuc.2	+	5	3124	c.2454G>A	c.(2452-2454)ACG>ACA	p.T818T	ADAM29_uc003iud.2_Silent_p.T818T|ADAM29_uc010irr.2_Silent_p.T818T|ADAM29_uc011cki.1_Silent_p.T818T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	818	Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|9.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)														---	---	---	---	capture		Silent	SNP	175899130	175899130	248	4	G	A	A	38	38	ADAM29	A	1	1
SORBS2	8470	broad.mit.edu	37	4	186545420	186545420	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186545420C>A	uc003iyl.2	-	13	2009	c.1151G>T	c.(1150-1152)TGT>TTT	p.C384F	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.C484F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.C288F|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.C498F|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	384						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---	capture		Missense_Mutation	SNP	186545420	186545420	15428	4	C	A	A	17	17	SORBS2	A	2	2
DNAH5	1767	broad.mit.edu	37	5	13793697	13793697	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13793697G>T	uc003jfd.2	-	49	8193	c.8151C>A	c.(8149-8151)CCC>CCA	p.P2717P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2717	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Silent	SNP	13793697	13793697	4787	5	G	T	T	43	43	DNAH5	T	2	2
DNAH5	1767	broad.mit.edu	37	5	13859679	13859679	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13859679C>A	uc003jfd.2	-	30	4874	c.4832G>T	c.(4831-4833)TGG>TTG	p.W1611L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1611	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	13859679	13859679	4787	5	C	A	A	21	21	DNAH5	A	2	2
DNAH5	1767	broad.mit.edu	37	5	13900362	13900362	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13900362G>T	uc003jfd.2	-	15	2254	c.2212C>A	c.(2212-2214)CTC>ATC	p.L738I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	738	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	13900362	13900362	4787	5	G	T	T	35	35	DNAH5	T	2	2
TRIO	7204	broad.mit.edu	37	5	14291163	14291163	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14291163C>A	uc003jff.2	+	5	885	c.879C>A	c.(877-879)CCC>CCA	p.P293P	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.P244P|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	293					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---	capture		Silent	SNP	14291163	14291163	17102	5	C	A	A	21	21	TRIO	A	2	2
TRIO	7204	broad.mit.edu	37	5	14498246	14498246	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14498246G>T	uc003jff.2	+	52	8102	c.8096G>T	c.(8095-8097)GGG>GTG	p.G2699V	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2699	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---	capture		Missense_Mutation	SNP	14498246	14498246	17102	5	G	T	T	43	43	TRIO	T	2	2
MARCH11	441061	broad.mit.edu	37	5	16067713	16067713	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16067713G>T	uc003jfo.2	-	4	1289	c.1076C>A	c.(1075-1077)CCA>CAA	p.P359Q	MARCH11_uc010itw.1_Missense_Mutation_p.P115Q	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	359						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	16067713	16067713	9683	5	G	T	T	47	47	MARCH11	T	2	2
SLC45A2	51151	broad.mit.edu	37	5	33947345	33947345	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33947345A>G	uc003jid.2	-	6	1383	c.1291T>C	c.(1291-1293)TTT>CTT	p.F431L	SLC45A2_uc003jie.2_Missense_Mutation_p.F431L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	431	Helical; Name=10; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	33947345	33947345	15138	5	A	G	G	2	2	SLC45A2	G	4	4
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36677103G>A	uc003jkj.3	+	6	1153	c.677G>A	c.(676-678)CGA>CAA	p.R226Q	SLC1A3_uc011cox.1_Missense_Mutation_p.R119Q|SLC1A3_uc010iuy.2_Missense_Mutation_p.R226Q	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	226	Extracellular (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	36677103	36677103	14929	5	G	A	A	37	37	SLC1A3	A	1	1
NIPBL	25836	broad.mit.edu	37	5	37017247	37017247	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37017247G>A	uc003jkl.3	+	24	5402	c.4903G>A	c.(4903-4905)GAA>AAA	p.E1635K	NIPBL_uc003jkk.3_Missense_Mutation_p.E1635K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1635					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	37017247	37017247	10829	5	G	A	A	33	33	NIPBL	A	2	2
LIFR	3977	broad.mit.edu	37	5	38482208	38482208	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38482208G>T	uc010ive.1	-	20	3115	c.2783C>A	c.(2782-2784)CCA>CAA	p.P928Q	LIFR_uc003jli.2_Missense_Mutation_p.P928Q	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	928	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)							T	PLAG1	salivary adenoma								---	---	---	---	capture		Missense_Mutation	SNP	38482208	38482208	9106	5	G	T	T	47	47	LIFR	T	2	2
OSMR	9180	broad.mit.edu	37	5	38881856	38881856	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38881856G>T	uc003jln.1	+	4	775	c.408G>T	c.(406-408)GAG>GAT	p.E136D	OSMR_uc003jlm.1_Missense_Mutation_p.E136D	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	136	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---	capture		Missense_Mutation	SNP	38881856	38881856	11703	5	G	T	T	35	35	OSMR	T	2	2
OSMR	9180	broad.mit.edu	37	5	38933049	38933049	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38933049G>T	uc003jln.1	+	18	2810	c.2443G>T	c.(2443-2445)GGG>TGG	p.G815W	OSMR_uc011cpj.1_Missense_Mutation_p.G19W	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	815	Cytoplasmic (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---	capture		Missense_Mutation	SNP	38933049	38933049	11703	5	G	T	T	35	35	OSMR	T	2	2
CARD6	84674	broad.mit.edu	37	5	40843654	40843654	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40843654G>T	uc003jmg.2	+	2	759	c.684G>T	c.(682-684)GTG>GTT	p.V228V		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	228	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	40843654	40843654	2769	5	G	T	T	47	47	CARD6	T	2	2
FBXO4	26272	broad.mit.edu	37	5	41927172	41927172	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41927172G>T	uc003jmq.2	+	2	303	c.247G>T	c.(247-249)GGA>TGA	p.G83*	FBXO4_uc003jmp.2_Nonsense_Mutation_p.G83*|FBXO4_uc003jmr.2_Nonsense_Mutation_p.G83*	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	83	F-box.				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)																---	---	---	---	capture		Nonsense_Mutation	SNP	41927172	41927172	5985	5	G	T	T	43	43	FBXO4	T	5	2
NNT	23530	broad.mit.edu	37	5	43659273	43659273	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43659273G>T	uc003joe.2	+	17	2710	c.2455G>T	c.(2455-2457)GGT>TGT	p.G819C	NNT_uc003jof.2_Missense_Mutation_p.G819C	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	819	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	43659273	43659273	10913	5	G	T	T	43	43	NNT	T	2	2
HCN1	348980	broad.mit.edu	37	5	45461983	45461983	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45461983G>T	uc003jok.2	-	3	1001	c.976C>A	c.(976-978)CCA>ACA	p.P326T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	326	Extracellular (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45461983	45461983	7278	5	G	T	T	43	43	HCN1	T	2	2
BDP1	55814	broad.mit.edu	37	5	70779723	70779723	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70779723C>A	uc003kbp.1	+	8	1332	c.1069C>A	c.(1069-1071)CAG>AAG	p.Q357K	BDP1_uc003kbn.1_Missense_Mutation_p.Q357K|BDP1_uc003kbo.2_Missense_Mutation_p.Q357K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	357	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Missense_Mutation	SNP	70779723	70779723	1417	5	C	A	A	23	23	BDP1	A	1	1
ENC1	8507	broad.mit.edu	37	5	73931873	73931873	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73931873G>T	uc003kdc.3	-	2	1569	c.438C>A	c.(436-438)CCC>CCA	p.P146P	ENC1_uc011css.1_Silent_p.P73P	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	146					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)														---	---	---	---	capture		Silent	SNP	73931873	73931873	5306	5	G	T	T	47	47	ENC1	T	2	2
LHFPL2	10184	broad.mit.edu	37	5	77805804	77805804	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:77805804C>A	uc003kfo.2	-	4	909	c.233G>T	c.(232-234)CGG>CTG	p.R78L		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	78						integral to membrane					0		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)														---	---	---	---	capture		Missense_Mutation	SNP	77805804	77805804	9091	5	C	A	A	23	23	LHFPL2	A	1	1
CMYA5	202333	broad.mit.edu	37	5	79030975	79030975	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79030975C>A	uc003kgc.2	+	2	6459	c.6387C>A	c.(6385-6387)CCC>CCA	p.P2129P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2129						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)														---	---	---	---	capture		Silent	SNP	79030975	79030975	3728	5	C	A	A	21	21	CMYA5	A	2	2
VCAN	1462	broad.mit.edu	37	5	82850838	82850838	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82850838G>C	uc003kii.3	+	12	10072	c.9716G>C	c.(9715-9717)TGG>TCG	p.W3239S	VCAN_uc003kij.3_Missense_Mutation_p.W2252S|VCAN_uc010jau.2_Missense_Mutation_p.W1485S|VCAN_uc003kik.3_Missense_Mutation_p.W498S|VCAN_uc003kil.3_Missense_Mutation_p.W1903S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3239	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---	capture		Missense_Mutation	SNP	82850838	82850838	17703	5	G	C	C	47	47	VCAN	C	3	3
TTC37	9652	broad.mit.edu	37	5	94861355	94861355	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94861355G>T	uc003klb.2	-	14	1427	c.1157C>A	c.(1156-1158)CCA>CAA	p.P386Q	TTC37_uc010jbf.1_Missense_Mutation_p.P338Q	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	386	TPR 5.						binding			ovary(3)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	94861355	94861355	17260	5	G	T	T	47	47	TTC37	T	2	2
ARSK	153642	broad.mit.edu	37	5	94927256	94927256	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94927256G>T	uc003kld.2	+	6	1181	c.1023G>T	c.(1021-1023)ATG>ATT	p.M341I	ARSK_uc010jbg.2_Missense_Mutation_p.M182I|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	341						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)														---	---	---	---	capture		Missense_Mutation	SNP	94927256	94927256	1014	5	G	T	T	47	47	ARSK	T	2	2
TSSK1B	83942	broad.mit.edu	37	5	112770133	112770133	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112770133C>A	uc003kqm.2	-	1	596	c.404G>T	c.(403-405)CGG>CTG	p.R135L	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	135	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)														---	---	---	---	capture		Missense_Mutation	SNP	112770133	112770133	17221	5	C	A	A	23	23	TSSK1B	A	1	1
CCDC112	153733	broad.mit.edu	37	5	114604585	114604585	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114604585G>T	uc003kqy.2	-	9	1805	c.1292C>A	c.(1291-1293)CCA>CAA	p.P431Q	CCDC112_uc003kqz.2_Missense_Mutation_p.P514Q|CCDC112_uc003kra.2_Missense_Mutation_p.P482Q	NM_152549	NP_689762	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112 isoform 2	431											0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)														---	---	---	---	capture		Missense_Mutation	SNP	114604585	114604585	2869	5	G	T	T	47	47	CCDC112	T	2	2
MEGF10	84466	broad.mit.edu	37	5	126734484	126734484	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126734484G>T	uc003kuh.3	+	8	1138	c.776G>T	c.(775-777)TGG>TTG	p.W259L	MEGF10_uc010jdc.1_Missense_Mutation_p.W259L|MEGF10_uc010jdd.1_Missense_Mutation_p.W259L|MEGF10_uc003kui.3_Missense_Mutation_p.W259L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	259	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)														---	---	---	---	capture		Missense_Mutation	SNP	126734484	126734484	9849	5	G	T	T	47	47	MEGF10	T	2	2
MEGF10	84466	broad.mit.edu	37	5	126769147	126769147	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126769147G>T	uc003kuh.3	+	15	2148	c.1786G>T	c.(1786-1788)GAT>TAT	p.D596Y	MEGF10_uc003kui.3_Missense_Mutation_p.D596Y	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	596	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)														---	---	---	---	capture		Missense_Mutation	SNP	126769147	126769147	9849	5	G	T	T	45	45	MEGF10	T	2	2
CHSY3	337876	broad.mit.edu	37	5	129520329	129520329	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129520329C>A	uc003kvd.2	+	3	1494	c.1494C>A	c.(1492-1494)ACC>ACA	p.T498T		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	498	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)														---	---	---	---	capture		Silent	SNP	129520329	129520329	3547	5	C	A	A	23	23	CHSY3	A	1	1
HARS2	23438	broad.mit.edu	37	5	140075098	140075098	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140075098C>A	uc003lgx.2	+	5	621	c.405C>A	c.(403-405)CCC>CCA	p.P135P	HARS2_uc010jfv.1_Silent_p.P65P|HARS2_uc011czr.1_Silent_p.P110P|HARS2_uc011czs.1_Intron|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'UTR	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	135					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140075098	140075098	7242	5	C	A	A	24	24	HARS2	A	2	2
PCDHA3	56145	broad.mit.edu	37	5	140181452	140181452	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140181452G>A	uc003lhf.2	+	1	670	c.670G>A	c.(670-672)GGC>AGC	p.G224S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G224S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	224	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140181452	140181452	11945	5	G	A	A	47	47	PCDHA3	A	2	2
PCDHA12	56137	broad.mit.edu	37	5	140255775	140255775	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140255775C>T	uc003lic.2	+	1	845	c.718C>T	c.(718-720)CCG>TCG	p.P240S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.P240S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	240	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140255775	140255775	11942	5	C	T	T	30	30	PCDHA12	T	2	2
SH3RF2	153769	broad.mit.edu	37	5	145428766	145428766	+	Missense_Mutation	SNP	G	T	T	rs146377978		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145428766G>T	uc003lnt.2	+	7	1518	c.1280G>T	c.(1279-1281)CGA>CTA	p.R427L	SH3RF2_uc011dbl.1_Missense_Mutation_p.R427L|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.2_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	427	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)													OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	145428766	145428766	14751	5	G	T	T	37	37	SH3RF2	T	1	1
JAKMIP2	9832	broad.mit.edu	37	5	147023671	147023671	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147023671G>C	uc003loq.1	-	7	1556	c.1174C>G	c.(1174-1176)CTA>GTA	p.L392V	JAKMIP2_uc011dbx.1_Missense_Mutation_p.L350V|JAKMIP2_uc003lor.1_Missense_Mutation_p.L392V|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L392V	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	392	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	147023671	147023671	8245	5	G	C	C	33	33	JAKMIP2	C	3	3
RANBP17	64901	broad.mit.edu	37	5	170598230	170598230	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170598230G>T	uc003mba.2	+	16	1821	c.1805G>T	c.(1804-1806)TGG>TTG	p.W602L	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003mbb.2_Intron	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	602					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---	capture		Missense_Mutation	SNP	170598230	170598230	13487	5	G	T	T	47	47	RANBP17	T	2	2
MYLIP	29116	broad.mit.edu	37	6	16143326	16143326	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16143326G>T	uc003nbq.2	+	4	777	c.540G>T	c.(538-540)TCG>TCT	p.S180S	MYLIP_uc003nbr.2_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	180	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)															---	---	---	---	capture		Silent	SNP	16143326	16143326	10450	6	G	T	T	39	39	MYLIP	T	1	1
TRIM38	10475	broad.mit.edu	37	6	25983517	25983517	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25983517C>T	uc003nfm.2	+	8	1435	c.1000C>T	c.(1000-1002)CCC>TCC	p.P334S	TRIM38_uc003nfn.2_Missense_Mutation_p.P316S|TRIM38_uc010jqd.2_5'UTR	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	334	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	25983517	25983517	17056	6	C	T	T	22	22	TRIM38	T	2	2
HIST1H1C	3006	broad.mit.edu	37	6	26056651	26056651	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26056651G>A	uc003nfw.2	-	1	49	c.6C>T	c.(4-6)TCC>TCT	p.S2S		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	2					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Silent	SNP	26056651	26056651	7409	6	G	A	A	39	39	HIST1H1C	A	1	1
BTN2A2	10385	broad.mit.edu	37	6	26390287	26390287	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26390287C>T	uc003nhq.2	+	5	865	c.779C>T	c.(778-780)ACC>ATC	p.T260I	BTN2A2_uc011dkf.1_Missense_Mutation_p.T144I|BTN2A2_uc011dkg.1_Missense_Mutation_p.T166I|BTN2A2_uc003nhr.2_Missense_Mutation_p.T144I|BTN2A2_uc011dkh.1_Missense_Mutation_p.T50I|BTN2A2_uc003nhs.2_Missense_Mutation_p.T260I|BTN2A2_uc003nht.2_Missense_Mutation_p.T260I|BTN2A2_uc011dki.1_Missense_Mutation_p.T9I	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	260	Extracellular (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	26390287	26390287	1595	6	C	T	T	18	18	BTN2A2	T	2	2
OR14J1	442191	broad.mit.edu	37	6	29274478	29274478	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29274478G>C	uc011dln.1	+	1	12	c.12G>C	c.(10-12)TTG>TTC	p.L4F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	29274478	29274478	11354	6	G	C	C	45	45	OR14J1	C	3	3
TUBB	203068	broad.mit.edu	37	6	30691668	30691668	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30691668G>T	uc003nrl.2	+	4	956	c.829G>T	c.(829-831)GGA>TGA	p.G277*	TUBB_uc003nrk.1_Nonsense_Mutation_p.G277*|TUBB_uc011dmq.1_Nonsense_Mutation_p.G205*	NM_178014	NP_821133	P07437	TBB5_HUMAN	tubulin, beta	277					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			ovary(1)	1					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)													---	---	---	---	capture		Nonsense_Mutation	SNP	30691668	30691668	17307	6	G	T	T	47	47	TUBB	T	5	2
VPS52	6293	broad.mit.edu	37	6	33235908	33235908	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33235908G>T	uc003odm.1	-	8	987	c.777C>A	c.(775-777)CCC>CCA	p.P259P	VPS52_uc003odn.1_Silent_p.P134P|VPS52_uc003odo.1_Silent_p.P184P|VPS52_uc011dqy.1_Silent_p.P134P|VPS52_uc011dqz.1_Silent_p.P134P	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	259					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	33235908	33235908	17781	6	G	T	T	43	43	VPS52	T	2	2
SYNGAP1	8831	broad.mit.edu	37	6	33411229	33411229	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33411229G>A	uc011dri.1	+	15	3095	c.2900G>A	c.(2899-2901)CGA>CAA	p.R967Q	SYNGAP1_uc010juy.2_Missense_Mutation_p.R938Q|SYNGAP1_uc010juz.2_Missense_Mutation_p.R679Q	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	967					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	33411229	33411229	15968	6	G	A	A	37	37	SYNGAP1	A	1	1
BAK1	578	broad.mit.edu	37	6	33541631	33541631	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33541631C>A	uc003oes.2	-	6	885	c.585G>T	c.(583-585)CTG>CTT	p.L195L	BAK1_uc003oer.2_Silent_p.L125L|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Silent_p.L195L|BAK1_uc003oeu.2_Silent_p.L136L	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	195	Helical; (Potential).				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	33541631	33541631	1326	6	C	A	A	21	21	BAK1	A	2	2
PACSIN1	29993	broad.mit.edu	37	6	34498116	34498116	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34498116G>A	uc003ojo.2	+	7	1091	c.885G>A	c.(883-885)ATG>ATA	p.M295I	PACSIN1_uc003ojp.2_Missense_Mutation_p.M295I	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	295					endocytosis		protein kinase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	34498116	34498116	11790	6	G	A	A	46	46	PACSIN1	A	2	2
CPNE5	57699	broad.mit.edu	37	6	36714347	36714347	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36714347G>A	uc003omr.1	-	16	1093	c.1026C>T	c.(1024-1026)CCC>CCT	p.P342P	CPNE5_uc003omp.1_Silent_p.P50P|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	342	VWFA.									skin(1)	1																		---	---	---	---	capture		Silent	SNP	36714347	36714347	3953	6	G	A	A	35	35	CPNE5	A	2	2
PEX6	5190	broad.mit.edu	37	6	42937458	42937458	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42937458C>A	uc003otf.2	-	5	1408	c.1315G>T	c.(1315-1317)GAG>TAG	p.E439*	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	439					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)															---	---	---	---	capture		Nonsense_Mutation	SNP	42937458	42937458	12172	6	C	A	A	30	30	PEX6	A	5	2
CUL7	9820	broad.mit.edu	37	6	43008367	43008367	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43008367C>A	uc003otq.2	-	21	4227	c.3924G>T	c.(3922-3924)CTG>CTT	p.L1308L	CUL7_uc010jyg.2_Silent_p.L587L|CUL7_uc011dvb.1_Silent_p.L1392L|CUL7_uc010jyh.2_Silent_p.L301L|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1308					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---	capture		Silent	SNP	43008367	43008367	4220	6	C	A	A	29	29	CUL7	A	2	2
CUL9	23113	broad.mit.edu	37	6	43171225	43171225	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43171225G>T	uc003ouk.2	+	19	3995	c.3920G>T	c.(3919-3921)CGG>CTG	p.R1307L	CUL9_uc003oul.2_Missense_Mutation_p.R1307L|CUL9_uc010jyk.2_Missense_Mutation_p.R459L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1307	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	43171225	43171225	4221	6	G	T	T	39	39	CUL9	T	1	1
XPO5	57510	broad.mit.edu	37	6	43534990	43534990	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43534990G>T	uc003ovp.2	-	7	961	c.750C>A	c.(748-750)CTC>CTA	p.L250L		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	250					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)															---	---	---	---	capture		Silent	SNP	43534990	43534990	18030	6	G	T	T	41	41	XPO5	T	2	2
GPR111	222611	broad.mit.edu	37	6	47649797	47649797	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47649797G>T	uc010jzj.1	+	6	1503	c.1502G>T	c.(1501-1503)TGG>TTG	p.W501L	GPR111_uc010jzk.1_Missense_Mutation_p.W433L|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	501	Helical; Name=2; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47649797	47649797	6902	6	G	T	T	47	47	GPR111	T	2	2
BAI3	577	broad.mit.edu	37	6	69349136	69349136	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69349136G>T	uc003pev.3	+	3	1017	c.569G>T	c.(568-570)GGG>GTG	p.G190V	BAI3_uc010kak.2_Missense_Mutation_p.G190V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	190	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	69349136	69349136	1321	6	G	T	T	43	43	BAI3	T	2	2
BAI3	577	broad.mit.edu	37	6	69949100	69949100	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69949100G>T	uc003pev.3	+	20	3244	c.2796G>T	c.(2794-2796)CAG>CAT	p.Q932H	BAI3_uc010kak.2_Missense_Mutation_p.Q932H|BAI3_uc011dxx.1_Missense_Mutation_p.Q138H|BAI3_uc003pex.1_Missense_Mutation_p.Q62H	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	932	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	69949100	69949100	1321	6	G	T	T	33	33	BAI3	T	2	2
CD109	135228	broad.mit.edu	37	6	74440235	74440235	+	Missense_Mutation	SNP	C	T	T	rs137899447	by1000genomes	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74440235C>T	uc003php.2	+	4	870	c.445C>T	c.(445-447)CGC>TGC	p.R149C	CD109_uc010kaz.2_Missense_Mutation_p.R149C|CD109_uc003phq.2_Missense_Mutation_p.R149C|CD109_uc010kba.2_Intron	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	149						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	74440235	74440235	3090	6	C	T	T	31	31	CD109	T	1	1
TPBG	7162	broad.mit.edu	37	6	83075567	83075567	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83075567G>A	uc003pjn.3	+	3	1825	c.889G>A	c.(889-891)GTC>ATC	p.V297I	TPBG_uc010kbj.2_Missense_Mutation_p.V297I|TPBG_uc003pjo.2_Missense_Mutation_p.V297I	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	297	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)														---	---	---	---	capture		Missense_Mutation	SNP	83075567	83075567	16938	6	G	A	A	44	44	TPBG	A	2	2
ME1	4199	broad.mit.edu	37	6	84108236	84108236	+	Splice_Site	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84108236C>A	uc003pjy.2	-	3	319	c.213_splice	c.e3-1	p.R71_splice	ME1_uc011dzb.1_Splice_Site|ME1_uc011dzc.1_Intron	NM_002395	NP_002386			cytosolic malic enzyme 1						carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)													---	---	---	---	capture		Splice_Site	SNP	84108236	84108236	9806	6	C	A	A	24	24	ME1	A	5	2
ZNF292	23036	broad.mit.edu	37	6	87967475	87967475	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87967475C>A	uc003plm.3	+	8	4169	c.4128C>A	c.(4126-4128)ATC>ATA	p.I1376I		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1376	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)														---	---	---	---	capture		Silent	SNP	87967475	87967475	18418	6	C	A	A	32	32	ZNF292	A	2	2
GABRR1	2569	broad.mit.edu	37	6	89888538	89888538	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89888538G>T	uc003pna.2	-	10	1846	c.1391C>A	c.(1390-1392)CCA>CAA	p.P464Q	GABRR1_uc011dzv.1_Missense_Mutation_p.P441Q	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	464	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---	capture		Missense_Mutation	SNP	89888538	89888538	6427	6	G	T	T	47	47	GABRR1	T	2	2
MDN1	23195	broad.mit.edu	37	6	90428724	90428724	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90428724C>A	uc003pnn.1	-	42	6199	c.6083G>T	c.(6082-6084)GGG>GTG	p.G2028V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2028					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture		Missense_Mutation	SNP	90428724	90428724	9804	6	C	A	A	22	22	MDN1	A	2	2
NR2E1	7101	broad.mit.edu	37	6	108492709	108492709	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108492709G>T	uc003psg.2	+	2	828	c.73G>T	c.(73-75)GGG>TGG	p.G25W		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	25	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	108492709	108492709	11030	6	G	T	T	43	43	NR2E1	T	2	2
SLC22A16	85413	broad.mit.edu	37	6	110763720	110763720	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110763720C>T	uc003puf.2	-	4	977	c.910G>A	c.(910-912)GCA>ACA	p.A304T	SLC22A16_uc003pue.2_Missense_Mutation_p.A285T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	304					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---	capture		Missense_Mutation	SNP	110763720	110763720	14943	6	C	T	T	28	28	SLC22A16	T	2	2
GTF3C6	112495	broad.mit.edu	37	6	111288821	111288821	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111288821C>A	uc003pum.2	+	6	680	c.470C>A	c.(469-471)CCA>CAA	p.P157Q		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide	157						transcription factor TFIIIC complex	DNA binding|protein binding				0		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	111288821	111288821	7157	6	C	A	A	21	21	GTF3C6	A	2	2
HS3ST5	222537	broad.mit.edu	37	6	114378812	114378812	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114378812G>T	uc003pwg.3	-	2	682	c.650C>A	c.(649-651)CCT>CAT	p.P217H	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P217H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	217	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)														---	---	---	---	capture		Missense_Mutation	SNP	114378812	114378812	7662	6	G	T	T	35	35	HS3ST5	T	2	2
NKAIN2	154215	broad.mit.edu	37	6	124604269	124604269	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:124604269G>T	uc003pzo.2	+	2	450	c.173G>T	c.(172-174)AGA>ATA	p.R58I	NKAIN2_uc003pzn.1_Missense_Mutation_p.R58I|NKAIN2_uc003pzp.2_Missense_Mutation_p.R57I|NKAIN2_uc010keq.2_Missense_Mutation_p.R58I|NKAIN2_uc010ker.2_5'UTR|NKAIN2_uc010kep.1_RNA	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	58						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)														---	---	---	---	capture		Missense_Mutation	SNP	124604269	124604269	10837	6	G	T	T	33	33	NKAIN2	T	2	2
NCOA7	135112	broad.mit.edu	37	6	126206305	126206305	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126206305G>T	uc010kes.2	+	10	1149	c.700G>T	c.(700-702)GGT>TGT	p.G234C	NCOA7_uc003qae.3_Missense_Mutation_p.G234C|NCOA7_uc003qah.2_Missense_Mutation_p.G234C|NCOA7_uc003qai.2_Missense_Mutation_p.G234C|NCOA7_uc010ket.2_Missense_Mutation_p.G130C|NCOA7_uc003qag.2_Missense_Mutation_p.G234C	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	234					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	126206305	126206305	10633	6	G	T	T	43	43	NCOA7	T	2	2
NCOA7	135112	broad.mit.edu	37	6	126210286	126210286	+	Silent	SNP	C	A	A	rs138299874		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126210286C>A	uc010kes.2	+	11	1535	c.1086C>A	c.(1084-1086)CCC>CCA	p.P362P	NCOA7_uc003qae.3_Silent_p.P362P|NCOA7_uc003qah.2_Silent_p.P351P|NCOA7_uc003qai.2_Silent_p.P362P|NCOA7_uc010ket.2_Silent_p.P247P	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	362					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---	capture		Silent	SNP	126210286	126210286	10633	6	C	A	A	24	24	NCOA7	A	2	2
NCOA7	135112	broad.mit.edu	37	6	126210333	126210333	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126210333G>T	uc010kes.2	+	11	1582	c.1133G>T	c.(1132-1134)AGG>ATG	p.R378M	NCOA7_uc003qae.3_Missense_Mutation_p.R378M|NCOA7_uc003qah.2_Missense_Mutation_p.R367M|NCOA7_uc003qai.2_Missense_Mutation_p.R378M|NCOA7_uc010ket.2_Missense_Mutation_p.R263M	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	378					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	126210333	126210333	10633	6	G	T	T	35	35	NCOA7	T	2	2
NCOA7	135112	broad.mit.edu	37	6	126210610	126210610	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126210610G>T	uc010kes.2	+	11	1859	c.1410G>T	c.(1408-1410)TTG>TTT	p.L470F	NCOA7_uc003qae.3_Missense_Mutation_p.L470F|NCOA7_uc003qah.2_Missense_Mutation_p.L459F|NCOA7_uc003qai.2_Missense_Mutation_p.L470F|NCOA7_uc010ket.2_Missense_Mutation_p.L355F	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	470					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	126210610	126210610	10633	6	G	T	T	47	47	NCOA7	T	2	2
TRMT11	60487	broad.mit.edu	37	6	126329537	126329537	+	Splice_Site	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126329537G>T	uc003qam.2	+	8	801	c.680_splice	c.e8-1	p.G227_splice	TRMT11_uc003qan.2_Splice_Site|TRMT11_uc010kev.2_Splice_Site_p.G227_splice	NM_001031712	NP_001026882			tRNA methyltransferase 11						tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)														---	---	---	---	capture		Splice_Site	SNP	126329537	126329537	17112	6	G	T	T	35	35	TRMT11	T	5	2
CENPW	387103	broad.mit.edu	37	6	126661444	126661444	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126661444C>A	uc003qao.2	+	1	192	c.25C>A	c.(25-27)CAG>AAG	p.Q9K	CENPW_uc003qap.3_RNA	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	hypothetical protein LOC387103	9						chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	126661444	126661444	3377	6	C	A	A	21	21	CENPW	A	2	2
ARHGAP18	93663	broad.mit.edu	37	6	129929122	129929122	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129929122C>G	uc003qbr.2	-	9	1287	c.1198G>C	c.(1198-1200)GCC>CCC	p.A400P	ARHGAP18_uc011ebw.1_Missense_Mutation_p.A400P	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	400	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)														---	---	---	---	capture		Missense_Mutation	SNP	129929122	129929122	879	6	C	G	G	27	27	ARHGAP18	G	3	3
CCDC28A	25901	broad.mit.edu	37	6	139094876	139094876	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139094876C>A	uc003qie.2	+	1	220	c.65C>A	c.(64-66)GCA>GAA	p.A22E	uc003qid.1_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	22											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)														---	---	---	---	capture		Missense_Mutation	SNP	139094876	139094876	2924	6	C	A	A	25	25	CCDC28A	A	2	2
REPS1	85021	broad.mit.edu	37	6	139229849	139229849	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139229849C>A	uc003qii.2	-	18	2751	c.2172G>T	c.(2170-2172)ACG>ACT	p.T724T	REPS1_uc003qig.3_Silent_p.T697T|REPS1_uc011edr.1_Silent_p.T723T|REPS1_uc003qij.2_Silent_p.T633T|REPS1_uc003qik.2_Silent_p.T330T	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	724	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)														---	---	---	---	capture		Silent	SNP	139229849	139229849	13697	6	C	A	A	23	23	REPS1	A	1	1
HIVEP2	3097	broad.mit.edu	37	6	143081653	143081653	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143081653C>A	uc003qjd.2	-	9	6515	c.5772G>T	c.(5770-5772)CAG>CAT	p.Q1924H		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1924					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	143081653	143081653	7478	6	C	A	A	24	24	HIVEP2	A	2	2
PHACTR2	9749	broad.mit.edu	37	6	144033158	144033158	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144033158G>T	uc003qjq.3	+	2	149	c.19G>T	c.(19-21)GGA>TGA	p.G7*	PHACTR2_uc010khh.2_Nonsense_Mutation_p.G7*|PHACTR2_uc010khi.2_Nonsense_Mutation_p.G18*|PHACTR2_uc003qjr.3_Nonsense_Mutation_p.G18*	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	7							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)														---	---	---	---	capture		Nonsense_Mutation	SNP	144033158	144033158	12233	6	G	T	T	39	39	PHACTR2	T	5	1
PLEKHG1	57480	broad.mit.edu	37	6	151153171	151153171	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151153171G>T	uc003qny.1	+	16	3236	c.2924G>T	c.(2923-2925)AGG>ATG	p.R975M	PLEKHG1_uc011eel.1_Missense_Mutation_p.R1015M|PLEKHG1_uc011eem.1_Missense_Mutation_p.R1034M|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R975M	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	975					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)														---	---	---	---	capture		Missense_Mutation	SNP	151153171	151153171	12494	6	G	T	T	35	35	PLEKHG1	T	2	2
SYNE1	23345	broad.mit.edu	37	6	152861157	152861157	+	Splice_Site	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152861157C>A	uc010kiw.2	-	4	670	c.68_splice	c.e4-1	p.D23_splice	SYNE1_uc003qot.3_Splice_Site_p.D23_splice|SYNE1_uc003qou.3_Splice_Site_p.D23_splice|SYNE1_uc010kjb.1_Splice_Site_p.D23_splice|SYNE1_uc003qpa.1_Splice_Site_p.D23_splice	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Splice_Site	SNP	152861157	152861157	15966	6	C	A	A	32	32	SYNE1	A	5	2
LPA	4018	broad.mit.edu	37	6	161007593	161007593	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161007593G>T	uc003qtl.2	-	26	4137	c.4017C>A	c.(4015-4017)CCC>CCA	p.P1339P		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3847	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)													---	---	---	---	capture		Silent	SNP	161007593	161007593	9276	6	G	T	T	47	47	LPA	T	2	2
LPA	4018	broad.mit.edu	37	6	161007644	161007644	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161007644G>T	uc003qtl.2	-	26	4086	c.3966C>A	c.(3964-3966)TAC>TAA	p.Y1322*		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3830	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)													---	---	---	---	capture		Nonsense_Mutation	SNP	161007644	161007644	9276	6	G	T	T	36	36	LPA	T	5	2
GPER	2852	broad.mit.edu	37	7	1131687	1131687	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1131687T>A	uc010ksd.1	+	2	712	c.323T>A	c.(322-324)CTG>CAG	p.L108Q	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.L108Q|GPER_uc003ska.1_Missense_Mutation_p.L108Q|GPER_uc003skb.2_Missense_Mutation_p.L108Q	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	108	Helical; Name=2; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)														---	---	---	---	capture		Missense_Mutation	SNP	1131687	1131687	6881	7	T	A	A	55	55	GPER	A	4	4
EIF3B	8662	broad.mit.edu	37	7	2406673	2406673	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2406673G>T	uc003slx.2	+	9	1479	c.1396G>T	c.(1396-1398)GGG>TGG	p.G466W	EIF3B_uc003sly.2_Missense_Mutation_p.G466W|EIF3B_uc003sma.2_Missense_Mutation_p.G194W	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	466					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)														---	---	---	---	capture		Missense_Mutation	SNP	2406673	2406673	5202	7	G	T	T	47	47	EIF3B	T	2	2
KIAA0415	9907	broad.mit.edu	37	7	4831000	4831000	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4831000G>A	uc003sne.2	+	17	2491	c.2408G>A	c.(2407-2409)GGC>GAC	p.G803D	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.G280D	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	803					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)														---	---	---	---	capture		Missense_Mutation	SNP	4831000	4831000	8482	7	G	A	A	42	42	KIAA0415	A	2	2
AIMP2	7965	broad.mit.edu	37	7	6054848	6054848	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6054848G>C	uc003spo.2	+	2	320	c.207G>C	c.(205-207)TTG>TTC	p.L69F		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	69					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	6054848	6054848	437	7	G	C	C	45	45	AIMP2	C	3	3
TWIST1	7291	broad.mit.edu	37	7	19156538	19156538	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:19156538G>T	uc003sum.2	-	1	758	c.407C>A	c.(406-408)CCC>CAC	p.P136H		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	136	Helix-loop-helix motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0														Saethre-Chotzen_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	19156538	19156538	17339	7	G	T	T	43	43	TWIST1	T	2	2
ABCB5	340273	broad.mit.edu	37	7	20778687	20778687	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20778687G>T	uc003suw.3	+	15	2160	c.1614G>T	c.(1612-1614)TCG>TCT	p.S538S	ABCB5_uc010kuh.2_Silent_p.S983S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	538	Cytoplasmic (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---	capture		Silent	SNP	20778687	20778687	45	7	G	T	T	39	39	ABCB5	T	1	1
C7orf31	136895	broad.mit.edu	37	7	25194742	25194742	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:25194742G>T	uc003sxn.1	-	6	1044	c.483C>A	c.(481-483)CCC>CCA	p.P161P	C7orf31_uc003sxm.1_Silent_p.P3P	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	161											0																		---	---	---	---	capture		Silent	SNP	25194742	25194742	2494	7	G	T	T	47	47	C7orf31	T	2	2
HOXA4	3201	broad.mit.edu	37	7	27170300	27170300	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27170300G>T	uc003sym.3	-	1	100	c.53C>A	c.(52-54)CCT>CAT	p.P18H		NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	18	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	27170300	27170300	7586	7	G	T	T	35	35	HOXA4	T	2	2
NPC1L1	29881	broad.mit.edu	37	7	44556482	44556482	+	Silent	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44556482G>C	uc003tlb.2	-	17	3476	c.3420C>G	c.(3418-3420)CTC>CTG	p.L1140L	NPC1L1_uc003tlc.2_Silent_p.L1113L|NPC1L1_uc011kbw.1_Silent_p.L1067L|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1140	Helical; Name=10; (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)													---	---	---	---	capture		Silent	SNP	44556482	44556482	10975	7	G	C	C	33	33	NPC1L1	C	3	3
CCM2	83605	broad.mit.edu	37	7	45112369	45112369	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45112369G>T	uc003tmo.2	+	7	936	c.790G>T	c.(790-792)GAA>TAA	p.E264*	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Nonsense_Mutation_p.E206*|CCM2_uc003tmq.2_Intron|CCM2_uc003tmr.2_Nonsense_Mutation_p.E173*|CCM2_uc011kcc.1_3'UTR|CCM2_uc003tms.2_Nonsense_Mutation_p.E285*	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	264					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														Familial_Cerebral_Cavernous_Angioma				---	---	---	---	capture		Nonsense_Mutation	SNP	45112369	45112369	3035	7	G	T	T	41	41	CCM2	T	5	2
KCTD7	154881	broad.mit.edu	37	7	66103967	66103967	+	Silent	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66103967C>G	uc003tve.2	+	4	780	c.618C>G	c.(616-618)CTC>CTG	p.L206L	RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Silent_p.L206L	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	206						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	66103967	66103967	8420	7	C	G	G	30	30	KCTD7	G	3	3
SEMA3D	223117	broad.mit.edu	37	7	84666276	84666276	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84666276C>A	uc003uic.2	-	10	1160	c.1120G>T	c.(1120-1122)GCT>TCT	p.A374S	SEMA3D_uc010led.2_Missense_Mutation_p.A374S|SEMA3D_uc003uib.2_Missense_Mutation_p.A13S	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	374	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	84666276	84666276	14513	7	C	A	A	25	25	SEMA3D	A	2	2
CCDC132	55610	broad.mit.edu	37	7	92935226	92935226	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92935226G>T	uc003umo.2	+	18	1667	c.1539G>T	c.(1537-1539)TTG>TTT	p.L513F	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L483F|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L233F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	513											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---	capture		Missense_Mutation	SNP	92935226	92935226	2887	7	G	T	T	48	48	CCDC132	T	2	2
DLX6	1750	broad.mit.edu	37	7	96639256	96639256	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96639256C>T	uc003uom.2	+	4	695	c.695C>T	c.(694-696)TCG>TTG	p.S232L	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	142					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---	capture		Missense_Mutation	SNP	96639256	96639256	4755	7	C	T	T	31	31	DLX6	T	1	1
TRRAP	8295	broad.mit.edu	37	7	98556990	98556990	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98556990G>T	uc003upp.2	+	44	6554	c.6345G>T	c.(6343-6345)GCG>GCT	p.A2115A	TRRAP_uc011kis.1_Silent_p.A2097A|TRRAP_uc003upr.2_Silent_p.A1814A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2115	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Silent	SNP	98556990	98556990	17152	7	G	T	T	39	39	TRRAP	T	1	1
CNPY4	245812	broad.mit.edu	37	7	99722389	99722389	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99722389G>T	uc003uto.2	+	6	728	c.625G>T	c.(625-627)GGG>TGG	p.G209W	MBLAC1_uc003utp.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	canopy 4 homolog precursor	209	Glu-rich.					extracellular region					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	99722389	99722389	3768	7	G	T	T	47	47	CNPY4	T	2	2
ZCWPW1	55063	broad.mit.edu	37	7	100006164	100006164	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100006164G>T	uc003uut.2	-	10	1235	c.987C>A	c.(985-987)CCC>CCA	p.P329P	ZCWPW1_uc011kjq.1_Silent_p.P209P|ZCWPW1_uc003uur.2_Silent_p.P209P|ZCWPW1_uc003uus.2_Silent_p.P209P|ZCWPW1_uc011kjr.1_Silent_p.P329P|ZCWPW1_uc003uuu.1_Silent_p.P330P|ZCWPW1_uc011kjs.1_Silent_p.P209P|ZCWPW1_uc011kjp.1_RNA	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	329	PWWP.						zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Silent	SNP	100006164	100006164	18185	7	G	T	T	35	35	ZCWPW1	T	2	2
MUC17	140453	broad.mit.edu	37	7	100684070	100684070	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100684070C>A	uc003uxp.1	+	3	9426	c.9373C>A	c.(9373-9375)CTT>ATT	p.L3125I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3125	Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100684070	100684070	10368	7	C	A	A	24	24	MUC17	A	2	2
TRIM56	81844	broad.mit.edu	37	7	100731192	100731192	+	Missense_Mutation	SNP	A	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100731192A>C	uc003uxq.2	+	3	830	c.599A>C	c.(598-600)CAC>CCC	p.H200P	TRIM56_uc003uxr.2_Missense_Mutation_p.H200P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	200	B box-type 2.				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100731192	100731192	17076	7	A	C	C	6	6	TRIM56	C	4	4
HBP1	26959	broad.mit.edu	37	7	106836436	106836436	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106836436T>A	uc003vdy.2	+	9	1411	c.1225T>A	c.(1225-1227)TCT>ACT	p.S409T	HBP1_uc011klv.1_Missense_Mutation_p.S419T|HBP1_uc003vdz.2_Missense_Mutation_p.S409T|HBP1_uc003vea.2_Missense_Mutation_p.S409T|HBP1_uc003veb.1_Missense_Mutation_p.S409T	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	409					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	106836436	106836436	7267	7	T	A	A	54	54	HBP1	A	4	4
IQUB	154865	broad.mit.edu	37	7	123109370	123109370	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123109370G>A	uc003vkn.2	-	9	2056	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	IQUB_uc003vko.2_Silent_p.I493I|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.I493I	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	493										ovary(3)|large_intestine(1)	4																		---	---	---	---	capture		Silent	SNP	123109370	123109370	8123	7	G	A	A	45	45	IQUB	A	2	2
ATP6V0A4	50617	broad.mit.edu	37	7	138429990	138429990	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138429990G>A	uc003vuf.2	-	13	1594	c.1356C>T	c.(1354-1356)ATC>ATT	p.I452I	ATP6V0A4_uc003vug.2_Silent_p.I452I|ATP6V0A4_uc003vuh.2_Silent_p.I452I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	452	Helical; (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1																		---	---	---	---	capture		Silent	SNP	138429990	138429990	1189	7	G	A	A	41	41	ATP6V0A4	A	2	2
OR6B1	135946	broad.mit.edu	37	7	143701805	143701805	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143701805G>A	uc003wdt.1	+	1	716	c.716G>A	c.(715-717)TGT>TAT	p.C239Y		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)																	---	---	---	---	capture		Missense_Mutation	SNP	143701805	143701805	11597	7	G	A	A	48	48	OR6B1	A	2	2
PPP1R3B	79660	broad.mit.edu	37	8	8998583	8998583	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8998583G>T	uc003wsn.3	-	2	744	c.579C>A	c.(577-579)TCC>TCA	p.S193S	PPP1R3B_uc003wso.3_Silent_p.S192S	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	193	CBM21.				glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---	capture		Silent	SNP	8998583	8998583	12807	8	G	T	T	35	35	PPP1R3B	T	2	2
PCM1	5108	broad.mit.edu	37	8	17829995	17829995	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17829995G>T	uc003wyi.3	+	23	4164	c.3742G>T	c.(3742-3744)GGA>TGA	p.G1248*	PCM1_uc011kyh.1_Nonsense_Mutation_p.G1248*|PCM1_uc003wyj.3_Nonsense_Mutation_p.G1249*|PCM1_uc011kyi.1_Nonsense_Mutation_p.G110*|PCM1_uc011kyj.1_5'UTR|PCM1_uc003wyk.3_5'UTR	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1248					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---	capture		Nonsense_Mutation	SNP	17829995	17829995	12004	8	G	T	T	39	39	PCM1	T	5	1
ADAM7	8756	broad.mit.edu	37	8	24324415	24324415	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24324415G>T	uc003xeb.2	+	6	606	c.493G>T	c.(493-495)GGT>TGT	p.G165C	ADAM7_uc003xea.1_Missense_Mutation_p.G165C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	165	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)														---	---	---	---	capture		Missense_Mutation	SNP	24324415	24324415	252	8	G	T	T	47	47	ADAM7	T	2	2
KIF13B	23303	broad.mit.edu	37	8	28950310	28950310	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28950310G>T	uc003xhh.3	-	37	4469	c.4410C>A	c.(4408-4410)CCC>CCA	p.P1470P	KIF13B_uc011laz.1_Silent_p.P10P	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1470					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)														---	---	---	---	capture		Silent	SNP	28950310	28950310	8586	8	G	T	T	39	39	KIF13B	T	1	1
WRN	7486	broad.mit.edu	37	8	31015003	31015003	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31015003G>C	uc003xio.3	+	33	4727	c.3939G>C	c.(3937-3939)CAG>CAC	p.Q1313H	WRN_uc010lvk.2_Missense_Mutation_p.Q780H	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1313					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	31015003	31015003	17976	8	G	C	C	33	33	WRN	C	3	3
UNC5D	137970	broad.mit.edu	37	8	35608161	35608161	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35608161G>T	uc003xjr.1	+	13	2325	c.1997G>T	c.(1996-1998)TGT>TTT	p.C666F	UNC5D_uc003xjs.1_Missense_Mutation_p.C661F|UNC5D_uc003xju.1_Missense_Mutation_p.C242F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	666	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		Missense_Mutation	SNP	35608161	35608161	17553	8	G	T	T	48	48	UNC5D	T	2	2
UNC5D	137970	broad.mit.edu	37	8	35624481	35624481	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35624481T>C	uc003xjr.1	+	15	2703	c.2375T>C	c.(2374-2376)CTG>CCG	p.L792P	UNC5D_uc003xjs.1_Missense_Mutation_p.L787P|UNC5D_uc003xju.1_Missense_Mutation_p.L368P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	792	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		Missense_Mutation	SNP	35624481	35624481	17553	8	T	C	C	55	55	UNC5D	C	4	4
KCNU1	157855	broad.mit.edu	37	8	36694350	36694350	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36694350G>T	uc010lvw.2	+	14	1492	c.1405G>T	c.(1405-1407)GGA>TGA	p.G469*	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	469	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)														---	---	---	---	capture		Nonsense_Mutation	SNP	36694350	36694350	8398	8	G	T	T	39	39	KCNU1	T	5	1
PROSC	11212	broad.mit.edu	37	8	37623261	37623261	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37623261C>A	uc003xkh.2	+	3	317	c.240C>A	c.(238-240)CCC>CCA	p.P80P		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	80							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Silent	SNP	37623261	37623261	13002	8	C	A	A	21	21	PROSC	A	2	2
RAB11FIP1	80223	broad.mit.edu	37	8	37732694	37732694	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37732694C>A	uc003xkm.1	-	3	1005	c.961G>T	c.(961-963)GGG>TGG	p.G321W	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.G169W|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.G321W|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.G169W	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	321					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---	capture		Missense_Mutation	SNP	37732694	37732694	13352	8	C	A	A	21	21	RAB11FIP1	A	2	2
ADAM18	8749	broad.mit.edu	37	8	39495087	39495087	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39495087T>C	uc003xni.2	+	9	692	c.692T>C	c.(691-693)CTG>CCG	p.L231P	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.L207P	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	231	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---	capture		Missense_Mutation	SNP	39495087	39495087	240	8	T	C	C	55	55	ADAM18	C	4	4
MYST3	7994	broad.mit.edu	37	8	41804152	41804152	+	Silent	SNP	A	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41804152A>C	uc010lxb.2	-	13	2497	c.1953T>G	c.(1951-1953)CCT>CCG	p.P651P	MYST3_uc010lxc.2_Silent_p.P651P|MYST3_uc003xon.3_Silent_p.P651P|MYST3_uc010lxd.2_Silent_p.P651P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	651	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.|Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)															---	---	---	---	capture		Silent	SNP	41804152	41804152	10499	8	A	C	C	11	11	MYST3	C	4	4
PXDNL	137902	broad.mit.edu	37	8	52387662	52387662	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52387662C>T	uc003xqu.3	-	7	665	c.564G>A	c.(562-564)CTG>CTA	p.L188L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	188	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---	capture		Silent	SNP	52387662	52387662	13306	8	C	T	T	29	29	PXDNL	T	2	2
EYA1	2138	broad.mit.edu	37	8	72182045	72182045	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72182045C>A	uc003xys.3	-	10	1267	c.980G>T	c.(979-981)TGG>TTG	p.W327L	EYA1_uc003xyr.3_Missense_Mutation_p.W322L|EYA1_uc003xyt.3_Missense_Mutation_p.W294L|EYA1_uc010lzf.2_Missense_Mutation_p.W254L|EYA1_uc003xyu.2_Missense_Mutation_p.W327L|EYA1_uc011lfe.1_Missense_Mutation_p.W321L|EYA1_uc003xyv.2_Missense_Mutation_p.W205L	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	327					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)															---	---	---	---	capture		Missense_Mutation	SNP	72182045	72182045	5522	8	C	A	A	21	21	EYA1	A	2	2
CNGB3	54714	broad.mit.edu	37	8	87751931	87751931	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87751931T>A	uc003ydx.2	-	2	209	c.163A>T	c.(163-165)ACC>TCC	p.T55S		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	55	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding	p.T55P(1)		ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	87751931	87751931	3739	8	T	A	A	60	60	CNGB3	A	4	4
CNBD1	168975	broad.mit.edu	37	8	87917412	87917412	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87917412G>T	uc003ydy.2	+	3	310	c.262G>T	c.(262-264)GAG>TAG	p.E88*		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	88										ovary(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	87917412	87917412	3729	8	G	T	T	41	41	CNBD1	T	5	2
UBR5	51366	broad.mit.edu	37	8	103340114	103340114	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103340114C>A	uc003ykr.1	-	12	1370	c.1337G>T	c.(1336-1338)TGG>TTG	p.W446L	UBR5_uc003yks.1_Missense_Mutation_p.W446L	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	446					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---	capture		Missense_Mutation	SNP	103340114	103340114	17463	8	C	A	A	21	21	UBR5	A	2	2
TRHR	7201	broad.mit.edu	37	8	110100339	110100339	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110100339T>C	uc003ymz.3	+	1	614	c.598T>C	c.(598-600)TAT>CAT	p.Y200H		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	200	Helical; Name=5; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)															---	---	---	---	capture		Missense_Mutation	SNP	110100339	110100339	17024	8	T	C	C	61	61	TRHR	C	4	4
CSMD3	114788	broad.mit.edu	37	8	113303805	113303805	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113303805A>T	uc003ynu.2	-	56	9067	c.8908T>A	c.(8908-8910)TTT>ATT	p.F2970I	CSMD3_uc003yns.2_Missense_Mutation_p.F2172I|CSMD3_uc003ynt.2_Missense_Mutation_p.F2930I|CSMD3_uc011lhx.1_Missense_Mutation_p.F2801I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2970	Extracellular (Potential).|Sushi 20.					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		Missense_Mutation	SNP	113303805	113303805	4087	8	A	T	T	4	4	CSMD3	T	4	4
WDR67	93594	broad.mit.edu	37	8	124121772	124121772	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124121772C>A	uc003ypp.1	+	10	1438	c.1348C>A	c.(1348-1350)CTC>ATC	p.L450I	WDR67_uc011lig.1_Missense_Mutation_p.L450I|WDR67_uc011lih.1_Missense_Mutation_p.L340I|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.L163I	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	450	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	124121772	124121772	17891	8	C	A	A	24	24	WDR67	A	2	2
ADCY8	114	broad.mit.edu	37	8	131792994	131792994	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131792994G>T	uc003ytd.3	-	18	3654	c.3398C>A	c.(3397-3399)CCA>CAA	p.P1133Q	ADCY8_uc010mds.2_Missense_Mutation_p.P1002Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1133	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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---	capture		Missense_Mutation	SNP	131792994	131792994	301	8	G	T	T	47	47	ADCY8	T	2	2
PHF20L1	51105	broad.mit.edu	37	8	133816985	133816985	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133816985G>T	uc003ytt.2	+	8	1172	c.847G>T	c.(847-849)GGT>TGT	p.G283C	PHF20L1_uc003ytr.2_Missense_Mutation_p.G257C|PHF20L1_uc010mdv.2_Missense_Mutation_p.G257C|PHF20L1_uc003yts.2_Missense_Mutation_p.G283C|PHF20L1_uc011lja.1_Missense_Mutation_p.G257C|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.G122C	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	283							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)															---	---	---	---	capture		Missense_Mutation	SNP	133816985	133816985	12255	8	G	T	T	47	47	PHF20L1	T	2	2
PTK2	5747	broad.mit.edu	37	8	141678480	141678480	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141678480T>C	uc003yvu.2	-	30	2983	c.2753A>G	c.(2752-2754)GAC>GGC	p.D918G	PTK2_uc011ljp.1_Missense_Mutation_p.D226G|PTK2_uc003yvo.2_Missense_Mutation_p.D546G|PTK2_uc011ljq.1_Missense_Mutation_p.D616G|PTK2_uc003yvp.2_Missense_Mutation_p.D586G|PTK2_uc003yvq.2_Missense_Mutation_p.D423G|PTK2_uc003yvr.2_Missense_Mutation_p.D861G|PTK2_uc003yvs.2_Missense_Mutation_p.D872G|PTK2_uc003yvt.2_Missense_Mutation_p.D940G|PTK2_uc003yvv.2_Missense_Mutation_p.D821G|PTK2_uc011ljr.1_Missense_Mutation_p.D931G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	918	Interaction with TGFB1I1.|Interaction with RGNEF (By similarity).				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)													OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	141678480	141678480	13217	8	T	C	C	58	58	PTK2	C	4	4
NFKBIL2	4796	broad.mit.edu	37	8	145667759	145667759	+	Silent	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145667759G>C	uc011llg.1	-	6	630	c.615C>G	c.(613-615)CGC>CGG	p.R205R		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	205	TPR 5.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---	capture		Silent	SNP	145667759	145667759	10782	8	G	C	C	34	34	NFKBIL2	C	3	3
C9orf123	90871	broad.mit.edu	37	9	7799633	7799633	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7799633C>A	uc003zki.2	-	1	146	c.102G>T	c.(100-102)GCG>GCT	p.A34A	C9orf123_uc003zkj.2_Silent_p.A34A			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	34						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)														---	---	---	---	capture		Silent	SNP	7799633	7799633	2566	9	C	A	A	27	27	C9orf123	A	1	1
CDKN2A	1029	broad.mit.edu	37	9	21971065	21971065	+	Missense_Mutation	SNP	T	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21971065T>G	uc003zpk.2	-	2	505	c.293A>C	c.(292-294)CAC>CCC	p.H98P	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A153A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	98	ANK 3.		H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.H98R(2)|p.H83fs*2(2)|p.H98Y(1)|p.H98H(1)|p.H98P(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.A68fs*3(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	---	---	---	capture		Missense_Mutation	SNP	21971065	21971065	3290	9	T	G	G	59	59	CDKN2A	G	4	4
C9orf131	138724	broad.mit.edu	37	9	35044392	35044392	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35044392G>T	uc003zvw.2	+	2	1795	c.1766G>T	c.(1765-1767)GGG>GTG	p.G589V	C9orf131_uc003zvu.2_Missense_Mutation_p.G541V|C9orf131_uc003zvv.2_Missense_Mutation_p.G516V|C9orf131_uc003zvx.2_Missense_Mutation_p.G554V	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	589											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---	capture		Missense_Mutation	SNP	35044392	35044392	2570	9	G	T	T	43	43	C9orf131	T	2	2
C9orf131	138724	broad.mit.edu	37	9	35045286	35045286	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35045286G>T	uc003zvw.2	+	2	2689	c.2660G>T	c.(2659-2661)GGG>GTG	p.G887V	C9orf131_uc003zvu.2_Missense_Mutation_p.G839V|C9orf131_uc003zvv.2_Missense_Mutation_p.G814V|C9orf131_uc003zvx.2_Missense_Mutation_p.G852V	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	887											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---	capture		Missense_Mutation	SNP	35045286	35045286	2570	9	G	T	T	43	43	C9orf131	T	2	2
TESK1	7016	broad.mit.edu	37	9	35608971	35608971	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35608971G>T	uc003zxa.2	+	10	1449	c.1113G>T	c.(1111-1113)TGG>TGT	p.W371C	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Missense_Mutation_p.W211C	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	371					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	35608971	35608971	16294	9	G	T	T	43	43	TESK1	T	2	2
RECK	8434	broad.mit.edu	37	9	36087870	36087870	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36087870C>A	uc003zyv.2	+	9	903	c.817C>A	c.(817-819)CCT>ACT	p.P273T	RECK_uc003zyw.2_Missense_Mutation_p.P145T|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	273	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Missense_Mutation	SNP	36087870	36087870	13669	9	C	A	A	22	22	RECK	A	2	2
RECK	8434	broad.mit.edu	37	9	36118794	36118794	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36118794G>T	uc003zyv.2	+	18	2380	c.2294G>T	c.(2293-2295)GGT>GTT	p.G765V	RECK_uc003zyw.2_Missense_Mutation_p.G637V|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	765	Kazal-like 3.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Missense_Mutation	SNP	36118794	36118794	13669	9	G	T	T	44	44	RECK	T	2	2
TDRD7	23424	broad.mit.edu	37	9	100232913	100232913	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100232913G>A	uc004axj.2	+	9	1928	c.1703G>A	c.(1702-1704)TGT>TAT	p.C568Y	TDRD7_uc011lux.1_Missense_Mutation_p.C494Y|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.1_5'UTR	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	568	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---	capture		Missense_Mutation	SNP	100232913	100232913	16262	9	G	A	A	48	48	TDRD7	A	2	2
ZNF618	114991	broad.mit.edu	37	9	116812065	116812065	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116812065A>T	uc004bid.2	+	15	2582	c.2483A>T	c.(2482-2484)AAG>ATG	p.K828M	ZNF618_uc004bic.2_Missense_Mutation_p.K735M|ZNF618_uc011lxi.1_Missense_Mutation_p.K795M|ZNF618_uc011lxj.1_Missense_Mutation_p.K796M|ZNF618_uc010mvb.2_Missense_Mutation_p.K418M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	828					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	116812065	116812065	18637	9	A	T	T	3	3	ZNF618	T	4	4
TRIM32	22954	broad.mit.edu	37	9	119461418	119461418	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119461418G>T	uc004bjx.2	+	2	1555	c.1397G>T	c.(1396-1398)AGG>ATG	p.R466M	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R466M	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	466	NHL 3.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3														Bardet-Biedl_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	119461418	119461418	17050	9	G	T	T	35	35	TRIM32	T	2	2
PTGS1	5742	broad.mit.edu	37	9	125140266	125140266	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125140266G>T	uc004bmg.1	+	3	318	c.183G>T	c.(181-183)ACG>ACT	p.T61T	PTGS1_uc011lys.1_Silent_p.T36T|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.T61T|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	61	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)													---	---	---	---	capture		Silent	SNP	125140266	125140266	13210	9	G	T	T	39	39	PTGS1	T	1	1
OR1L6	392390	broad.mit.edu	37	9	125512589	125512589	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125512589C>A	uc011lzc.1	+	1	571	c.571C>A	c.(571-573)CTA>ATA	p.L191I		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	191	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	125512589	125512589	11372	9	C	A	A	24	24	OR1L6	A	2	2
GARNL3	84253	broad.mit.edu	37	9	130098406	130098406	+	Splice_Site	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130098406G>T	uc011mae.1	+	11	1275	c.874_splice	c.e11-1	p.V292_splice	GARNL3_uc011mad.1_Splice_Site_p.V270_splice|GARNL3_uc004bqt.1_Splice_Site_p.V73_splice	NM_032293	NP_115669			GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Splice_Site	SNP	130098406	130098406	6505	9	G	T	T	35	35	GARNL3	T	5	2
RAPGEF1	2889	broad.mit.edu	37	9	134471736	134471736	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134471736C>G	uc004cbc.2	-	14	2210	c.2080G>C	c.(2080-2082)GGA>CGA	p.G694R	RAPGEF1_uc004cbb.2_Missense_Mutation_p.G712R|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.G869R|RAPGEF1_uc004cbd.2_Missense_Mutation_p.G699R	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	694	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)														---	---	---	---	capture		Missense_Mutation	SNP	134471736	134471736	13503	9	C	G	G	23	23	RAPGEF1	G	3	3
SARDH	1757	broad.mit.edu	37	9	136596516	136596516	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136596516C>A	uc004cep.3	-	4	735	c.601G>T	c.(601-603)GGG>TGG	p.G201W	SARDH_uc004ceo.2_Missense_Mutation_p.G201W|SARDH_uc011mdn.1_Missense_Mutation_p.G201W|SARDH_uc011mdo.1_Missense_Mutation_p.G33W	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	201					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---	capture		Missense_Mutation	SNP	136596516	136596516	14322	9	C	A	A	23	23	SARDH	A	1	1
RXRA	6256	broad.mit.edu	37	9	137293518	137293518	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137293518G>T	uc004cfb.2	+	2	231	c.69G>T	c.(67-69)ACG>ACT	p.T23T	RXRA_uc004cfa.1_Missense_Mutation_p.G74W	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	23	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)													---	---	---	---	capture		Silent	SNP	137293518	137293518	14243	9	G	T	T	39	39	RXRA	T	1	1
COL5A1	1289	broad.mit.edu	37	9	137717709	137717709	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137717709G>T	uc004cfe.2	+	63	5408	c.5026G>T	c.(5026-5028)GGG>TGG	p.G1676W	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1676	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---	capture		Missense_Mutation	SNP	137717709	137717709	3834	9	G	T	T	39	39	COL5A1	T	1	1
EHMT1	79813	broad.mit.edu	37	9	140637893	140637893	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140637893G>T	uc011mfc.1	+	5	931	c.894G>T	c.(892-894)CTG>CTT	p.L298L	EHMT1_uc004coa.2_Silent_p.L298L|EHMT1_uc004cob.1_Silent_p.L267L|EHMT1_uc010ncn.1_RNA	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	298					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)														---	---	---	---	capture		Silent	SNP	140637893	140637893	5172	9	G	T	T	47	47	EHMT1	T	2	2
STS	412	broad.mit.edu	37	X	7268042	7268042	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:7268042G>A	uc004cry.3	+	10	1737	c.1492G>A	c.(1492-1494)GAC>AAC	p.D498N		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	498	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)									Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	7268042	7268042	15852	23	G	A	A	37	37	STS	A	1	1
TLR7	51284	broad.mit.edu	37	X	12905841	12905841	+	Silent	SNP	G	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12905841G>A	uc004cvc.2	+	3	2353	c.2214G>A	c.(2212-2214)CTG>CTA	p.L738L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	738	LRR 25.|Extracellular (Potential).			L -> P (in Ref. 2; AAF78035).	cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)													---	---	---	---	capture		Silent	SNP	12905841	12905841	16486	23	G	A	A	45	45	TLR7	A	2	2
OFD1	8481	broad.mit.edu	37	X	13785402	13785402	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13785402G>T	uc004cvp.3	+	20	3115	c.2756G>T	c.(2755-2757)AGG>ATG	p.R919M	OFD1_uc004cvr.3_Missense_Mutation_p.R449M|OFD1_uc011mil.1_Missense_Mutation_p.R486M|OFD1_uc004cvq.3_Missense_Mutation_p.R742M|OFD1_uc010nen.2_Missense_Mutation_p.R918M|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R878M|OFD1_uc004cvv.3_Missense_Mutation_p.R878M	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	919	Mediates the interaction with SDCCAG8.|Potential.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	13785402	13785402	11243	23	G	T	T	35	35	OFD1	T	2	2
CTPS2	56474	broad.mit.edu	37	X	16716377	16716377	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16716377G>T	uc004cxk.2	-	4	1164	c.420C>A	c.(418-420)CCC>CCA	p.P140P	CTPS2_uc004cxl.2_Silent_p.P140P|CTPS2_uc004cxm.2_Silent_p.P140P	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	140					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)																	---	---	---	---	capture		Silent	SNP	16716377	16716377	4182	23	G	T	T	43	43	CTPS2	T	2	2
TXLNG	55787	broad.mit.edu	37	X	16846272	16846272	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16846272C>A	uc004cxq.1	+	4	605	c.554C>A	c.(553-555)GCC>GAC	p.A185D	TXLNG_uc010ney.1_Missense_Mutation_p.A53D	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	185	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	16846272	16846272	17345	23	C	A	A	26	26	TXLNG	A	2	2
MAP3K15	389840	broad.mit.edu	37	X	19410195	19410195	+	Nonsense_Mutation	SNP	C	A	A	rs79798608	byFrequency;by1000genomes	TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19410195C>A	uc004czk.1	-	19	2418	c.781G>T	c.(781-783)GGA>TGA	p.G261*	MAP3K15_uc004czj.1_Nonsense_Mutation_p.G221*	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	786	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)																	---	---	---	---	capture		Nonsense_Mutation	SNP	19410195	19410195	9632	23	C	A	A	23	23	MAP3K15	A	5	1
WAS	7454	broad.mit.edu	37	X	48544493	48544493	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48544493C>A	uc004dkm.3	+	6	586	c.529C>A	c.(529-531)CTG>ATG	p.L177M		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	177					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)						Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	48544493	48544493	17823	23	C	A	A	24	24	WAS	A	2	2
KLF8	11279	broad.mit.edu	37	X	56295866	56295866	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56295866G>C	uc004dur.2	+	4	1648	c.702G>C	c.(700-702)GAG>GAC	p.E234D	KLF8_uc010nkg.2_3'UTR|KLF8_uc011mop.1_Missense_Mutation_p.E234D|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	56295866	56295866	8664	23	G	C	C	33	33	KLF8	C	3	3
ZXDA	7789	broad.mit.edu	37	X	57935671	57935671	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57935671C>A	uc004dve.2	-	1	1397	c.1184G>T	c.(1183-1185)GGC>GTC	p.G395V		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	395	C2H2-type 5.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57935671	57935671	18855	23	C	A	A	26	26	ZXDA	A	2	2
AWAT2	158835	broad.mit.edu	37	X	69262236	69262236	+	Silent	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69262236C>A	uc004dxt.1	-	6	654	c.648G>T	c.(646-648)GGG>GGT	p.G216G		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	216						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	69262236	69262236	1256	23	C	A	A	22	22	AWAT2	A	2	2
ATRX	546	broad.mit.edu	37	X	76763844	76763844	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76763844T>A	uc004ecp.3	-	35	7696	c.7464A>T	c.(7462-7464)CAA>CAT	p.Q2488H	ATRX_uc004ecq.3_Missense_Mutation_p.Q2450H|ATRX_uc004eco.3_Missense_Mutation_p.Q2273H	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2488					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---	capture		Missense_Mutation	SNP	76763844	76763844	1227	23	T	A	A	56	56	ATRX	A	4	4
BRWD3	254065	broad.mit.edu	37	X	79936891	79936891	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79936891C>A	uc004edt.2	-	40	4866	c.4603G>T	c.(4603-4605)GAC>TAC	p.D1535Y	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edp.2_Missense_Mutation_p.D1364Y|BRWD3_uc004edq.2_Missense_Mutation_p.D1131Y|BRWD3_uc010nmj.1_Missense_Mutation_p.D1131Y|BRWD3_uc004edr.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eds.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edu.2_Missense_Mutation_p.D1205Y|BRWD3_uc004edv.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edw.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edx.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edy.2_Missense_Mutation_p.D1131Y|BRWD3_uc004edz.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eea.2_Missense_Mutation_p.D1205Y|BRWD3_uc004eeb.2_Missense_Mutation_p.D1131Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1535										ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	79936891	79936891	1557	23	C	A	A	29	29	BRWD3	A	2	2
XKRX	402415	broad.mit.edu	37	X	100169360	100169360	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100169360G>T	uc004egn.2	-	3	1922	c.1317C>A	c.(1315-1317)CCC>CCA	p.P439P	XKRX_uc011mre.1_Silent_p.P235P	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	439						integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---	capture		Silent	SNP	100169360	100169360	18020	23	G	T	T	35	35	XKRX	T	2	2
BEX1	55859	broad.mit.edu	37	X	102317936	102317936	+	Silent	SNP	C	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102317936C>T	uc004ejt.1	-	3	507	c.267G>A	c.(265-267)GTG>GTA	p.V89V		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	89					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	102317936	102317936	1434	23	C	T	T	29	29	BEX1	T	2	2
RAB40A	142684	broad.mit.edu	37	X	102755135	102755135	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102755135C>A	uc004ekk.2	-	3	892	c.550G>T	c.(550-552)GGG>TGG	p.G184W		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	184	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	102755135	102755135	13398	23	C	A	A	23	23	RAB40A	A	1	1
MUM1L1	139221	broad.mit.edu	37	X	105450408	105450408	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105450408G>T	uc004emf.1	+	4	1632	c.983G>T	c.(982-984)TGG>TTG	p.W328L	MUM1L1_uc004emg.1_Missense_Mutation_p.W328L	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	328										ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	105450408	105450408	10380	23	G	T	T	47	47	MUM1L1	T	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125686327	125686327	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125686327C>A	uc004eul.2	-	1	516	c.265G>T	c.(265-267)GAG>TAG	p.E89*		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	89										skin(3)|ovary(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	125686327	125686327	4435	23	C	A	A	30	30	DCAF12L1	A	5	2
MST4	51765	broad.mit.edu	37	X	131206864	131206864	+	Silent	SNP	G	C	C			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131206864G>C	uc004ewk.1	+	10	1351	c.1050G>C	c.(1048-1050)CTG>CTC	p.L350L	MST4_uc004ewl.1_Silent_p.L273L|MST4_uc011mux.1_Silent_p.L372L|MST4_uc010nrj.1_Intron|MST4_uc004ewm.1_Silent_p.L288L	NM_016542	NP_057626	Q9P289	MST4_HUMAN	serine/threonine protein kinase MST4 isoform 1	350					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Silent	SNP	131206864	131206864	10285	23	G	C	C	45	45	MST4	C	3	3
FMR1	2332	broad.mit.edu	37	X	147014058	147014058	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147014058G>T	uc010nst.2	+	8	934	c.745G>T	c.(745-747)GGG>TGG	p.G249W	FMR1_uc011mwz.1_Missense_Mutation_p.G249W|FMR1_uc004fcj.2_Missense_Mutation_p.G249W|FMR1_uc004fck.3_Missense_Mutation_p.G249W|FMR1_uc004fcl.3_Missense_Mutation_p.G110W|FMR1_uc011mxa.1_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	249	KH 1.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	147014058	147014058	6202	23	G	T	T	47	47	FMR1	T	2	2
AFF2	2334	broad.mit.edu	37	X	147743533	147743533	+	Silent	SNP	G	T	T			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147743533G>T	uc004fcp.2	+	3	764	c.285G>T	c.(283-285)GTG>GTT	p.V95V	AFF2_uc004fco.2_Silent_p.V91V|AFF2_uc004fcq.2_Silent_p.V91V|AFF2_uc004fcr.2_Silent_p.V91V|AFF2_uc011mxb.1_Silent_p.V95V|AFF2_uc004fcs.2_Silent_p.V91V	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	95					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	147743533	147743533	358	23	G	T	T	47	47	AFF2	T	2	2
MAGEA11	4110	broad.mit.edu	37	X	148798395	148798395	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148798395C>A	uc004fdq.2	+	5	1351	c.1249C>A	c.(1249-1251)CTG>ATG	p.L417M	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.L388M	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	417	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---	capture		Missense_Mutation	SNP	148798395	148798395	9542	23	C	A	A	24	24	MAGEA11	A	2	2
SLC6A8	6535	broad.mit.edu	37	X	152959701	152959701	+	Missense_Mutation	SNP	C	G	G	rs3179358		TCGA-46-3765-01	TCGA-46-3765-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152959701C>G	uc004fib.3	+	9	1649	c.1371C>G	c.(1369-1371)ATC>ATG	p.I457M	SLC6A8_uc004fic.3_Missense_Mutation_p.I447M|SLC6A8_uc011myx.1_Missense_Mutation_p.I342M|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	457	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)													---	---	---	---	capture		Missense_Mutation	SNP	152959701	152959701	15187	23	C	G	G	31	31	SLC6A8	G	3	3
