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
CTNNA3	29119	broad.mit.edu	37	10	69299393	69299394	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69299393_69299394TG>CT	uc009xpn.1	-	4	449_450	c.326_327CA>AG	c.(325-327)ACA>AAG	p.T109K	CTNNA3_uc001jmw.2_Missense_Mutation_p.T109K|CTNNA3_uc001jmx.3_Missense_Mutation_p.T109K|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.T121K	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	109	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---	capture		Missense_Mutation	DNP	69299393	69299394	4173	10	TG	CT	CT	55	55	CTNNA3	CT	4	4
PNLIPRP1	5407	broad.mit.edu	37	10	118352021	118352022	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118352021_118352022GG>AT	uc001lco.1	+	4	316_317	c.298_299GG>AT	c.(298-300)GGA>ATA	p.G100I	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G100I|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.G100I|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	100					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)														---	---	---	---	capture		Missense_Mutation	DNP	118352021	118352022	12576	10	GG	AT	AT	35	35	PNLIPRP1	AT	2	2
MICAL3	57553	broad.mit.edu	37	22	18300884	18300885	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18300884_18300885CC>AA	uc002zng.3	-	26	4895_4896	c.4542_4543GG>TT	c.(4540-4545)GTGGAG>GTTTAG	p.E1515*	MICAL3_uc011agl.1_Nonsense_Mutation_p.E1431*|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1515						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---	capture		Nonsense_Mutation	DNP	18300884	18300885	9961	22	CC	AA	AA	30	30	MICAL3	AA	5	2
CDH10	1008	broad.mit.edu	37	5	24505300	24505301	+	Missense_Mutation	DNP	AT	CA	CA			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24505300_24505301AT>CA	uc003jgr.1	-	8	1645_1646	c.1313_1314AT>TG	c.(1312-1314)AAT>ATG	p.N438M	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	438	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---	capture		Missense_Mutation	DNP	24505300	24505301	3225	5	AT	CA	CA	8	8	CDH10	CA	4	4
CD9	928	broad.mit.edu	37	12	6341859	6341859	+	Frame_Shift_Del	DEL	C	-	-			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6341859delC	uc001qnp.1	+	4	681	c.237delC	c.(235-237)TGCfs	p.C79fs	CD9_uc010seu.1_Frame_Shift_Del_p.C79fs|CD9_uc010sev.1_Frame_Shift_Del_p.C79fs|CD9_uc001qnq.1_Frame_Shift_Del_p.C79fs	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	79	Cytoplasmic (Potential).			C->A: Loss of palmitoylation; when associated with A-9; A-78; A-87; A-218 and A-219.	cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	6341859	6341859	3174	12	C	-	-	27	27	CD9	-	5	5
TUBGCP5	114791	broad.mit.edu	37	15	22833557	22833557	+	Frame_Shift_Del	DEL	G	-	-			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22833557delG	uc001yur.3	+	1	163	c.33delG	c.(31-33)TTGfs	p.L11fs	TUBGCP5_uc001yuq.2_Frame_Shift_Del_p.L11fs	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	11					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22833557	22833557	17324	15	G	-	-	47	47	TUBGCP5	-	5	5
PER3	8863	broad.mit.edu	37	1	7887545	7887545	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7887545G>T	uc001aoo.2	+	17	2707	c.2532G>T	c.(2530-2532)TTG>TTT	p.L844F	PER3_uc009vmg.1_Missense_Mutation_p.L852F|PER3_uc009vmh.1_Missense_Mutation_p.L845F|PER3_uc001aop.2_Missense_Mutation_p.L852F|PER3_uc010nzw.1_Missense_Mutation_p.L533F	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	844	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	7887545	7887545	12152	1	G	T	T	47	47	PER3	T	2	2
MTOR	2475	broad.mit.edu	37	1	11217271	11217271	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11217271G>T	uc001asd.2	-	30	4528	c.4407C>A	c.(4405-4407)ACC>ACA	p.T1469T		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1469	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---	capture		Silent	SNP	11217271	11217271	10347	1	G	T	T	47	47	MTOR	T	2	2
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12854104G>T	uc001auj.1	+	3	431	c.328G>T	c.(328-330)GAG>TAG	p.E110*		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	110											0	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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	12854104	12854104	12861	1	G	T	T	37	37	PRAMEF1	T	5	1
AGMAT	79814	broad.mit.edu	37	1	15900200	15900200	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15900200C>A	uc001awv.1	-	7	1148	c.1005G>T	c.(1003-1005)GCG>GCT	p.A335A	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	335					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	15900200	15900200	388	1	C	A	A	23	23	AGMAT	A	1	1
NBPF1	55672	broad.mit.edu	37	1	16893674	16893674	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16893674C>A	uc009vos.1	-	26	3952	c.3064G>T	c.(3064-3066)GGA>TGA	p.G1022*	NBPF1_uc009vot.1_Nonsense_Mutation_p.E405*|NBPF1_uc001ayz.1_Nonsense_Mutation_p.E405*|NBPF1_uc010oce.1_3'UTR	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1022	NBPF 6.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)														---	---	---	---	capture		Nonsense_Mutation	SNP	16893674	16893674	10588	1	C	A	A	21	21	NBPF1	A	5	2
PLA2G2E	30814	broad.mit.edu	37	1	20249204	20249204	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20249204C>A	uc001bct.1	-	2	143	c.85G>T	c.(85-87)GAG>TAG	p.E29*		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	29					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	20249204	20249204	12424	1	C	A	A	31	31	PLA2G2E	A	5	1
USP48	84196	broad.mit.edu	37	1	22028076	22028076	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22028076G>T	uc001bfb.2	-	22	2880	c.2642C>A	c.(2641-2643)CCG>CAG	p.P881Q	USP48_uc001bfa.2_Missense_Mutation_p.P419Q|USP48_uc010odq.1_Missense_Mutation_p.P893Q|USP48_uc009vqc.2_Missense_Mutation_p.P815Q|USP48_uc001bfc.2_Missense_Mutation_p.P881Q|USP48_uc001bfd.1_Missense_Mutation_p.P6Q	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	881					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)														---	---	---	---	capture		Missense_Mutation	SNP	22028076	22028076	17643	1	G	T	T	39	39	USP48	T	1	1
SRRM1	10250	broad.mit.edu	37	1	24975436	24975436	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24975436C>A	uc001bjm.2	+	4	545	c.321C>A	c.(319-321)CCC>CCA	p.P107P	SRRM1_uc010oel.1_Silent_p.P107P|SRRM1_uc009vrh.1_Silent_p.P68P|SRRM1_uc009vri.1_Silent_p.P24P|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	107	PWI.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|Necessary for DNA and RNA-binding.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)														---	---	---	---	capture		Silent	SNP	24975436	24975436	15682	1	C	A	A	22	22	SRRM1	A	2	2
SEPN1	57190	broad.mit.edu	37	1	26142090	26142090	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26142090G>T	uc010oer.1	+	16	1709	c.1654G>T	c.(1654-1656)GAG>TAG	p.E552*	SEPN1_uc010oes.1_Nonsense_Mutation_p.E518*	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	552						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	26142090	26142090	14542	1	G	T	T	37	37	SEPN1	T	5	1
GPR3	2827	broad.mit.edu	37	1	27721228	27721228	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27721228G>T	uc001bod.2	+	2	1021	c.926G>T	c.(925-927)TGG>TTG	p.W309L		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	309	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Missense_Mutation	SNP	27721228	27721228	6961	1	G	T	T	47	47	GPR3	T	2	2
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28476668C>G	uc001bpl.2	-	2	992	c.865G>C	c.(865-867)GAC>CAC	p.D289H	PTAFR_uc001bpm.3_Missense_Mutation_p.D289H|PTAFR_uc009vte.2_Missense_Mutation_p.D289H	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289	Helical; Name=7; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	28476668	28476668	13177	1	C	G	G	32	32	PTAFR	G	3	3
LAPTM5	7805	broad.mit.edu	37	1	31208107	31208107	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31208107G>T	uc001bsc.2	-	7	703	c.612C>A	c.(610-612)TAC>TAA	p.Y204*		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	204	Helical; (Potential).				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	31208107	31208107	8949	1	G	T	T	48	48	LAPTM5	T	5	2
AK2	204	broad.mit.edu	37	1	33480161	33480161	+	Nonsense_Mutation	SNP	C	A	A	rs148421308	byFrequency;by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33480161C>A	uc001bwp.1	-	5	502	c.460G>T	c.(460-462)GAG>TAG	p.E154*	uc001bwn.2_Intron|AK2_uc001bwo.1_Nonsense_Mutation_p.E154*|AK2_uc010ohq.1_Nonsense_Mutation_p.E146*|AK2_uc009vud.1_Nonsense_Mutation_p.E112*|AK2_uc010ohr.1_Nonsense_Mutation_p.E106*|AK2_uc001bwq.1_Nonsense_Mutation_p.E106*	NM_001625	NP_001616	P54819	KAD2_HUMAN	adenylate kinase 2 isoform a	154					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)																---	---	---	---	capture		Nonsense_Mutation	SNP	33480161	33480161	443	1	C	A	A	31	31	AK2	A	5	1
ZMYM4	9202	broad.mit.edu	37	1	35879662	35879662	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35879662G>T	uc001byt.2	+	27	4118	c.4038G>T	c.(4036-4038)TGG>TGT	p.W1346C	ZMYM4_uc009vuu.2_Missense_Mutation_p.W1314C|ZMYM4_uc001byu.2_Missense_Mutation_p.W1022C|ZMYM4_uc009vuv.2_Missense_Mutation_p.W1085C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1346					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---	capture		Missense_Mutation	SNP	35879662	35879662	18293	1	G	T	T	43	43	ZMYM4	T	2	2
SF3A3	10946	broad.mit.edu	37	1	38453319	38453319	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38453319C>A	uc001cci.2	-	4	353	c.229G>T	c.(229-231)GGA>TGA	p.G77*	SF3A3_uc010oik.1_Intron	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	77					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---	capture		Nonsense_Mutation	SNP	38453319	38453319	14637	1	C	A	A	24	24	SF3A3	A	5	2
MACF1	23499	broad.mit.edu	37	1	39801335	39801335	+	Silent	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39801335A>G	uc010oiu.1	+	1	4526	c.4395A>G	c.(4393-4395)AAA>AAG	p.K1465K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3030					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	39801335	39801335	9521	1	A	G	G	3	3	MACF1	G	4	4
MACF1	23499	broad.mit.edu	37	1	39914355	39914355	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39914355C>A	uc010oiu.1	+	49	15638	c.15507C>A	c.(15505-15507)CCC>CCA	p.P5169P	MACF1_uc010ois.1_Silent_p.P4667P	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	39914355	39914355	9521	1	C	A	A	23	23	MACF1	A	1	1
PABPC4	8761	broad.mit.edu	37	1	40035605	40035605	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40035605G>T	uc010oiv.1	-	4	1471	c.573C>A	c.(571-573)ACC>ACA	p.T191T	PABPC4_uc001cdl.2_Silent_p.T191T|PABPC4_uc001cdm.2_Silent_p.T191T|SNORA55_uc001cdo.1_5'Flank	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	191	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)															---	---	---	---	capture		Silent	SNP	40035605	40035605	11781	1	G	T	T	47	47	PABPC4	T	2	2
PPIE	10450	broad.mit.edu	37	1	40209578	40209578	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40209578C>A	uc001cds.1	+	6	409	c.366C>A	c.(364-366)CCC>CCA	p.P122P	PPIE_uc001cdt.1_Silent_p.P56P|PPIE_uc010oiy.1_Silent_p.P56P|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Silent_p.P122P|PPIE_uc001cdw.2_Silent_p.P122P|PPIE_uc001cdx.1_Silent_p.P38P	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	122					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)															---	---	---	---	capture		Silent	SNP	40209578	40209578	12757	1	C	A	A	21	21	PPIE	A	2	2
ZNF642	339559	broad.mit.edu	37	1	40961342	40961342	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40961342C>A	uc001cfo.2	+	6	1486	c.1192C>A	c.(1192-1194)CTT>ATT	p.L398I	ZNF642_uc009vwb.2_Missense_Mutation_p.L398I|ZNF642_uc010ojk.1_Missense_Mutation_p.L399I	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	398	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)															---	---	---	---	capture		Missense_Mutation	SNP	40961342	40961342	18653	1	C	A	A	24	24	ZNF642	A	2	2
WDR65	149465	broad.mit.edu	37	1	43649507	43649507	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43649507C>A	uc001cip.1	+	4	841	c.720C>A	c.(718-720)ACC>ACA	p.T240T	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.T229T|WDR65_uc001ciq.1_Silent_p.T240T	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	240										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Silent	SNP	43649507	43649507	17889	1	C	A	A	21	21	WDR65	A	2	2
DPH2	1802	broad.mit.edu	37	1	44437066	44437066	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44437066G>T	uc001ckz.2	+	4	687	c.492G>T	c.(490-492)TTG>TTT	p.L164F	DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.L29F|DPH2_uc001clb.2_Missense_Mutation_p.L88F	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	164					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)																---	---	---	---	capture		Missense_Mutation	SNP	44437066	44437066	4904	1	G	T	T	47	47	DPH2	T	2	2
PTCH2	8643	broad.mit.edu	37	1	45293338	45293338	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45293338C>A	uc010olf.1	-	15	2119	c.2107G>T	c.(2107-2109)GGA>TGA	p.G703*	PTCH2_uc010olg.1_Nonsense_Mutation_p.G401*	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	703	Helical; (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	45293338	45293338	13185	1	C	A	A	23	23	PTCH2	A	5	1
FOXD2	2306	broad.mit.edu	37	1	47904255	47904255	+	Silent	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47904255T>C	uc001crm.2	+	1	2567	c.448T>C	c.(448-450)TTG>CTG	p.L150L		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	150	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)														---	---	---	---	capture		Silent	SNP	47904255	47904255	6239	1	T	C	C	60	60	FOXD2	C	4	4
SSBP3	23648	broad.mit.edu	37	1	54867610	54867610	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54867610C>A	uc001cxe.2	-	4	498	c.200G>T	c.(199-201)TGG>TTG	p.W67L	SSBP3_uc001cxf.2_Missense_Mutation_p.W67L|SSBP3_uc001cxg.2_Missense_Mutation_p.W67L	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	54867610	54867610	15696	1	C	A	A	21	21	SSBP3	A	2	2
PRKAA2	5563	broad.mit.edu	37	1	57158175	57158175	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57158175G>T	uc001cyk.3	+	4	546	c.475G>T	c.(475-477)GGA>TGA	p.G159*		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	159	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	57158175	57158175	12937	1	G	T	T	39	39	PRKAA2	T	5	1
MSH4	4438	broad.mit.edu	37	1	76363685	76363685	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76363685G>A	uc001dhd.1	+	18	2490	c.2449G>A	c.(2449-2451)GTA>ATA	p.V817I		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	817					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5													MMR					---	---	---	---	capture		Missense_Mutation	SNP	76363685	76363685	10265	1	G	A	A	48	48	MSH4	A	2	2
FUBP1	8880	broad.mit.edu	37	1	78414917	78414917	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78414917C>A	uc001dii.2	-	19	1938	c.1849G>T	c.(1849-1851)GAG>TAG	p.E617*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.E638*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	617					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	78414917	78414917	6343	1	C	A	A	29	29	FUBP1	A	5	2
ELTD1	64123	broad.mit.edu	37	1	79383618	79383618	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:79383618C>A	uc001diq.3	-	11	1735	c.1579G>T	c.(1579-1581)GGA>TGA	p.G527*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	527	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)														---	---	---	---	capture		Nonsense_Mutation	SNP	79383618	79383618	5276	1	C	A	A	22	22	ELTD1	A	5	2
LPHN2	23266	broad.mit.edu	37	1	82409087	82409087	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82409087G>A	uc001dit.3	+	6	1013	c.832G>A	c.(832-834)GCC>ACC	p.A278T	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A278T|LPHN2_uc001div.2_Missense_Mutation_p.A278T|LPHN2_uc009wcd.2_Missense_Mutation_p.A278T	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	278	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A278P(2)		ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	82409087	82409087	9289	1	G	A	A	38	38	LPHN2	A	1	1
SSX2IP	117178	broad.mit.edu	37	1	85127909	85127909	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85127909C>A	uc001dkh.2	-	9	1174	c.899G>T	c.(898-900)AGA>ATA	p.R300I	SSX2IP_uc001dkf.2_Missense_Mutation_p.R273I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.R273I|SSX2IP_uc001dki.2_Missense_Mutation_p.R300I|SSX2IP_uc010osa.1_Missense_Mutation_p.R273I|SSX2IP_uc001dkj.2_Missense_Mutation_p.R300I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R296I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	300					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	85127909	85127909	15722	1	C	A	A	32	32	SSX2IP	A	2	2
COL24A1	255631	broad.mit.edu	37	1	86283725	86283725	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86283725C>A	uc001dlj.2	-	46	3877	c.3835G>T	c.(3835-3837)GGG>TGG	p.G1279W	COL24A1_uc001dli.2_Missense_Mutation_p.G415W|COL24A1_uc010osd.1_Missense_Mutation_p.G579W|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1279	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	86283725	86283725	3821	1	C	A	A	21	21	COL24A1	A	2	2
CLCA2	9635	broad.mit.edu	37	1	86900260	86900260	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86900260G>C	uc001dlr.3	+	6	966	c.804G>C	c.(802-804)CAG>CAC	p.Q268H		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	268	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)														---	---	---	---	capture		Missense_Mutation	SNP	86900260	86900260	3594	1	G	C	C	33	33	CLCA2	C	3	3
CLCA4	22802	broad.mit.edu	37	1	87031604	87031604	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:87031604C>A	uc009wcs.2	+	6	899	c.855C>A	c.(853-855)ACC>ACA	p.T285T	CLCA4_uc009wct.2_Silent_p.T48T|CLCA4_uc009wcu.2_Silent_p.T105T	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	285						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)														---	---	---	---	capture		Silent	SNP	87031604	87031604	3595	1	C	A	A	21	21	CLCA4	A	2	2
LRRC8B	23507	broad.mit.edu	37	1	90048540	90048540	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90048540G>T	uc001dni.2	+	7	838	c.331G>T	c.(331-333)GAG>TAG	p.E111*	LRRC8B_uc001dnh.2_Nonsense_Mutation_p.E111*|LRRC8B_uc001dnj.2_Nonsense_Mutation_p.E111*	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	111						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)														---	---	---	---	capture		Nonsense_Mutation	SNP	90048540	90048540	9398	1	G	T	T	37	37	LRRC8B	T	5	1
ZNF644	84146	broad.mit.edu	37	1	91406192	91406192	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91406192G>T	uc001dnw.2	-	3	861	c.719C>A	c.(718-720)ACA>AAA	p.T240K	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T240K	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	91406192	91406192	18655	1	G	T	T	48	48	ZNF644	T	2	2
BTBD8	284697	broad.mit.edu	37	1	92546225	92546225	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92546225C>A	uc001doo.2	+	1	364	c.97C>A	c.(97-99)CGG>AGG	p.R33R	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	33						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)														---	---	---	---	capture		Silent	SNP	92546225	92546225	1581	1	C	A	A	27	27	BTBD8	A	1	1
RPL5	6125	broad.mit.edu	37	1	93303026	93303026	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93303026C>A	uc001doz.2	+	6	619	c.541C>A	c.(541-543)CCT>ACT	p.P181T	FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.P131T|RPL5_uc001dpd.2_5'UTR	NM_000969	NP_000960	P46777	RL5_HUMAN	ribosomal protein L5	181					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome				0		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)														---	---	---	---	capture		Missense_Mutation	SNP	93303026	93303026	14076	1	C	A	A	22	22	RPL5	A	2	2
CCDC18	343099	broad.mit.edu	37	1	93705398	93705398	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93705398C>A	uc001dpq.2	+	21	3448	c.3280C>A	c.(3280-3282)CAA>AAA	p.Q1094K	CCDC18_uc009wdl.1_Missense_Mutation_p.Q611K	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	975	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)														---	---	---	---	capture		Missense_Mutation	SNP	93705398	93705398	2916	1	C	A	A	29	29	CCDC18	A	2	2
GCLM	2730	broad.mit.edu	37	1	94367168	94367168	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94367168C>A	uc001dqg.1	-	3	543	c.250G>T	c.(250-252)GAT>TAT	p.D84Y		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	84					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	94367168	94367168	6562	1	C	A	A	29	29	GCLM	A	2	2
ABCA4	24	broad.mit.edu	37	1	94544954	94544954	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94544954C>A	uc001dqh.2	-	9	1267	c.1163G>T	c.(1162-1164)AGG>ATG	p.R388M	ABCA4_uc010otn.1_Missense_Mutation_p.R388M	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	388	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	94544954	94544954	35	1	C	A	A	24	24	ABCA4	A	2	2
SLC30A7	148867	broad.mit.edu	37	1	101377733	101377733	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101377733G>T	uc001dtn.2	+	5	637	c.450G>T	c.(448-450)GTG>GTT	p.V150V	SLC30A7_uc001dto.2_Silent_p.V150V	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	150	Helical; (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)														---	---	---	---	capture		Silent	SNP	101377733	101377733	15057	1	G	T	T	47	47	SLC30A7	T	2	2
COL11A1	1301	broad.mit.edu	37	1	103483389	103483389	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103483389T>A	uc001dul.2	-	11	1718	c.1400A>T	c.(1399-1401)GAC>GTC	p.D467V	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D479V|COL11A1_uc001dun.2_Missense_Mutation_p.D428V|COL11A1_uc009weh.2_Missense_Mutation_p.D351V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	467	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	103483389	103483389	3805	1	T	A	A	58	58	COL11A1	A	4	4
SLC6A17	388662	broad.mit.edu	37	1	110738209	110738209	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110738209G>T	uc009wfq.2	+	10	1955	c.1494G>T	c.(1492-1494)GTG>GTT	p.V498V		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	498	Helical; Name=9; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)														---	---	---	---	capture		Silent	SNP	110738209	110738209	15177	1	G	T	T	47	47	SLC6A17	T	2	2
SLC6A17	388662	broad.mit.edu	37	1	110740093	110740093	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110740093C>A	uc009wfq.2	+	11	2148	c.1687C>A	c.(1687-1689)CGC>AGC	p.R563S		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	563	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)												OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	110740093	110740093	15177	1	C	A	A	23	23	SLC6A17	A	1	1
NRAS	4893	broad.mit.edu	37	1	115256591	115256591	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115256591G>T	uc009wgu.2	-	3	374	c.120C>A	c.(118-120)TAC>TAA	p.Y40*		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	40	Effector region.				activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)			50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			---	---	---	---	capture		Nonsense_Mutation	SNP	115256591	115256591	11045	1	G	T	T	48	48	NRAS	T	5	2
REG4	83998	broad.mit.edu	37	1	120342482	120342482	+	Nonsense_Mutation	SNP	C	A	A	rs149733140		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120342482C>A	uc001eig.2	-	5	609	c.169G>T	c.(169-171)GAG>TAG	p.E57*	REG4_uc001eif.2_Nonsense_Mutation_p.E57*	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	57	C-type lectin.					extracellular region	sugar binding			ovary(1)	1	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)														---	---	---	---	capture		Nonsense_Mutation	SNP	120342482	120342482	13683	1	C	A	A	31	31	REG4	A	5	1
PDE4DIP	9659	broad.mit.edu	37	1	144857696	144857696	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144857696C>A	uc001elw.3	-	39	6649	c.6358G>T	c.(6358-6360)GGT>TGT	p.G2120C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.G2014C|PDE4DIP_uc001elv.3_Missense_Mutation_p.G1127C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2120					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---	capture		Missense_Mutation	SNP	144857696	144857696	12064	1	C	A	A	21	21	PDE4DIP	A	2	2
TARS2	80222	broad.mit.edu	37	1	150463190	150463190	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150463190G>T	uc001euq.2	+	4	508	c.501G>T	c.(499-501)CTG>CTT	p.L167L	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Silent_p.L167L|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Silent_p.L167L	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	167					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)													---	---	---	---	capture		Silent	SNP	150463190	150463190	16082	1	G	T	T	47	47	TARS2	T	2	2
CTSK	1513	broad.mit.edu	37	1	150779234	150779234	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150779234C>A	uc001evp.1	-	2	172	c.48G>T	c.(46-48)CTG>CTT	p.L16L	CTSK_uc001evq.1_5'UTR|CTSK_uc009wma.1_RNA	NM_000396	NP_000387	P43235	CATK_HUMAN	cathepsin K preproprotein	16					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			skin(1)	1	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---	capture		Silent	SNP	150779234	150779234	4196	1	C	A	A	17	17	CTSK	A	2	2
MLLT11	10962	broad.mit.edu	37	1	151039902	151039902	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151039902G>T	uc001ewq.2	+	2	1087	c.202G>T	c.(202-204)GAG>TAG	p.E68*		NM_006818	NP_006809	Q13015	AF1Q_HUMAN	MLLT11 protein	68					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent						0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---	capture		Nonsense_Mutation	SNP	151039902	151039902	10017	1	G	T	T	45	45	MLLT11	T	5	2
PSMD4	5710	broad.mit.edu	37	1	151239682	151239682	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151239682G>T	uc001exl.2	+	10	1059	c.997G>T	c.(997-999)GAG>TAG	p.E333*	PSMD4_uc001exn.2_Nonsense_Mutation_p.E336*	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	333					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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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		Nonsense_Mutation	SNP	151239682	151239682	13153	1	G	T	T	37	37	PSMD4	T	5	1
RPTN	126638	broad.mit.edu	37	1	152127904	152127904	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152127904G>T	uc001ezs.1	-	3	1736	c.1671C>A	c.(1669-1671)TCC>TCA	p.S557S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	557	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Silent	SNP	152127904	152127904	14144	1	G	T	T	43	43	RPTN	T	2	2
RPTN	126638	broad.mit.edu	37	1	152128930	152128930	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152128930G>T	uc001ezs.1	-	3	710	c.645C>A	c.(643-645)ACC>ACA	p.T215T		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	215	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Silent	SNP	152128930	152128930	14144	1	G	T	T	47	47	RPTN	T	2	2
HRNR	388697	broad.mit.edu	37	1	152187072	152187072	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187072C>A	uc001ezt.1	-	3	7109	c.7033G>T	c.(7033-7035)GAG>TAG	p.E2345*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2345	25.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Nonsense_Mutation	SNP	152187072	152187072	7653	1	C	A	A	31	31	HRNR	A	5	1
FLG	2312	broad.mit.edu	37	1	152276039	152276039	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152276039C>A	uc001ezu.1	-	3	11359	c.11323G>T	c.(11323-11325)GAG>TAG	p.E3775*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3775	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		Nonsense_Mutation	SNP	152276039	152276039	6160	1	C	A	A	31	31	FLG	A	5	1
NUP210L	91181	broad.mit.edu	37	1	154110594	154110594	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154110594C>T	uc001fdw.2	-	6	910	c.838G>A	c.(838-840)GGG>AGG	p.G280R	NUP210L_uc009woq.2_5'Flank|NUP210L_uc010peh.1_Missense_Mutation_p.G280R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	280						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	154110594	154110594	11166	1	C	T	T	24	24	NUP210L	T	2	2
ATP8B2	57198	broad.mit.edu	37	1	154306630	154306630	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									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
PBXIP1	57326	broad.mit.edu	37	1	154924289	154924289	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154924289C>A	uc001ffr.2	-	3	219	c.160G>T	c.(160-162)GGG>TGG	p.G54W	PBXIP1_uc001ffs.2_Missense_Mutation_p.G25W|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	54					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---	capture		Missense_Mutation	SNP	154924289	154924289	11916	1	C	A	A	21	21	PBXIP1	A	2	2
ASH1L	55870	broad.mit.edu	37	1	155449247	155449247	+	Silent	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155449247T>C	uc009wqq.2	-	3	3894	c.3414A>G	c.(3412-3414)TTA>TTG	p.L1138L	ASH1L_uc001fkt.2_Silent_p.L1138L|ASH1L_uc009wqr.1_Silent_p.L1138L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1138					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Silent	SNP	155449247	155449247	1060	1	T	C	C	57	57	ASH1L	C	4	4
YY1AP1	55249	broad.mit.edu	37	1	155646376	155646376	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155646376G>T	uc001fln.2	-	5	509	c.485C>A	c.(484-486)CCA>CAA	p.P162Q	YY1AP1_uc010pgg.1_Missense_Mutation_p.P30Q|YY1AP1_uc010pgh.1_Missense_Mutation_p.P85Q|YY1AP1_uc010pgi.1_Missense_Mutation_p.P234Q|YY1AP1_uc001flh.2_Missense_Mutation_p.P234Q|YY1AP1_uc009wqt.2_Missense_Mutation_p.P85Q|YY1AP1_uc001flk.2_Missense_Mutation_p.P85Q|YY1AP1_uc001fll.2_Missense_Mutation_p.P96Q|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.P85Q|YY1AP1_uc001fli.2_Missense_Mutation_p.P96Q|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.P96Q|YY1AP1_uc009wqw.2_Missense_Mutation_p.P85Q|YY1AP1_uc001flo.2_Missense_Mutation_p.P30Q|YY1AP1_uc001flp.2_Missense_Mutation_p.P96Q|YY1AP1_uc010pgj.1_Missense_Mutation_p.P162Q|YY1AP1_uc009wqx.2_Missense_Mutation_p.P234Q|YY1AP1_uc010pgk.1_Missense_Mutation_p.P234Q	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	162					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---	capture		Missense_Mutation	SNP	155646376	155646376	18091	1	G	T	T	47	47	YY1AP1	T	2	2
TMEM79	84283	broad.mit.edu	37	1	156261304	156261304	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156261304G>A	uc010phi.1	+	4	1296	c.1100G>A	c.(1099-1101)CGC>CAC	p.R367H	TMEM79_uc001fod.2_Missense_Mutation_p.R208H|TMEM79_uc009wrw.2_Missense_Mutation_p.R367H|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	367						integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156261304	156261304	16742	1	G	A	A	38	38	TMEM79	A	1	1
IQGAP3	128239	broad.mit.edu	37	1	156532415	156532415	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156532415G>T	uc001fpf.2	-	9	916	c.841C>A	c.(841-843)CAG>AAG	p.Q281K	IQGAP3_uc009wsb.1_Missense_Mutation_p.Q238K	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	281					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		Missense_Mutation	SNP	156532415	156532415	8119	1	G	T	T	45	45	IQGAP3	T	2	2
FCRL3	115352	broad.mit.edu	37	1	157666025	157666025	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157666025G>C	uc001frb.2	-	7	1229	c.937C>G	c.(937-939)CAG>GAG	p.Q313E	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q313E|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.Q39E|FCRL3_uc001frc.1_Missense_Mutation_p.Q313E	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	313	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	157666025	157666025	6033	1	G	C	C	47	47	FCRL3	C	3	3
SPTA1	6708	broad.mit.edu	37	1	158585059	158585059	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158585059G>T	uc001fst.1	-	48	6934	c.6735C>A	c.(6733-6735)CTC>CTA	p.L2245L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2245	Spectrin 21.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---	capture		Silent	SNP	158585059	158585059	15630	1	G	T	T	33	33	SPTA1	T	2	2
FCER1A	2205	broad.mit.edu	37	1	159275863	159275863	+	Silent	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159275863T>C	uc001ftq.2	+	5	516	c.417T>C	c.(415-417)GAT>GAC	p.D139D		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	139	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)													---	---	---	---	capture		Silent	SNP	159275863	159275863	6011	1	T	C	C	51	51	FCER1A	C	4	4
ATP1A4	480	broad.mit.edu	37	1	160129229	160129229	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160129229G>T	uc001fve.3	+	6	1170	c.691G>T	c.(691-693)GAA>TAA	p.E231*	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	231	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---	capture		Nonsense_Mutation	SNP	160129229	160129229	1150	1	G	T	T	33	33	ATP1A4	T	5	2
NCSTN	23385	broad.mit.edu	37	1	160319959	160319959	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160319959G>T	uc001fvx.2	+	5	625	c.501G>T	c.(499-501)CTG>CTT	p.L167L	NCSTN_uc001fvy.2_Silent_p.L147L|NCSTN_uc010pjf.1_Silent_p.L167L|NCSTN_uc001fvz.2_5'UTR|NCSTN_uc010pjg.1_5'UTR	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	167	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---	capture		Silent	SNP	160319959	160319959	10640	1	G	T	T	47	47	NCSTN	T	2	2
POU2F1	5451	broad.mit.edu	37	1	167382310	167382310	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167382310G>A	uc001gec.2	+	16	2042	c.1880G>A	c.(1879-1881)AGC>AAC	p.S627N	POU2F1_uc001ged.2_Missense_Mutation_p.S625N|POU2F1_uc001gee.2_Missense_Mutation_p.S627N|POU2F1_uc010plh.1_Missense_Mutation_p.S564N|POU2F1_uc001gef.2_Missense_Mutation_p.S639N|POU2F1_uc001geg.2_Missense_Mutation_p.S525N	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	627					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	167382310	167382310	12701	1	G	A	A	34	34	POU2F1	A	2	2
TBX19	9095	broad.mit.edu	37	1	168260443	168260443	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168260443C>A	uc001gfl.2	+	2	300	c.249C>A	c.(247-249)CCC>CCA	p.P83P	TBX19_uc001gfj.3_Silent_p.P14P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	83	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---	capture		Silent	SNP	168260443	168260443	16180	1	C	A	A	21	21	TBX19	A	2	2
F5	2153	broad.mit.edu	37	1	169510709	169510709	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169510709C>A	uc001ggg.1	-	13	3764	c.3619G>T	c.(3619-3621)GAC>TAC	p.D1207Y		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1207	B.|2-3.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.				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	169510709	169510709	5542	1	C	A	A	32	32	F5	A	2	2
F5	2153	broad.mit.edu	37	1	169529939	169529939	+	Missense_Mutation	SNP	C	T	T	rs118203912		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169529939C>T	uc001ggg.1	-	4	584	c.439G>A	c.(439-441)GAA>AAA	p.E147K	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	147	F5/8 type A 1.|Plastocyanin-like 1.				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	169529939	169529939	5542	1	C	T	T	32	32	F5	T	2	2
DARS2	55157	broad.mit.edu	37	1	173800688	173800688	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173800688G>T	uc001gjh.1	+	5	822	c.412G>T	c.(412-414)GAG>TAG	p.E138*		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	138					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)													---	---	---	---	capture		Nonsense_Mutation	SNP	173800688	173800688	4409	1	G	T	T	45	45	DARS2	T	5	2
RC3H1	149041	broad.mit.edu	37	1	173930278	173930278	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173930278C>A	uc001gju.3	-	12	2394	c.2307G>T	c.(2305-2307)AAG>AAT	p.K769N	RC3H1_uc010pms.1_Missense_Mutation_p.K769N|RC3H1_uc001gjv.2_Missense_Mutation_p.K769N|RC3H1_uc010pmt.1_Missense_Mutation_p.K769N	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	769	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	173930278	173930278	13635	1	C	A	A	24	24	RC3H1	A	2	2
GPR52	9293	broad.mit.edu	37	1	174417805	174417805	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174417805C>A	uc001gka.1	+	1	594	c.556C>A	c.(556-558)CAT>AAT	p.H186N	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	186	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	174417805	174417805	6973	1	C	A	A	21	21	GPR52	A	2	2
TNN	63923	broad.mit.edu	37	1	175087722	175087722	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175087722C>A	uc001gkl.1	+	11	2525	c.2412C>A	c.(2410-2412)GTC>GTA	p.V804V		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	804	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)														---	---	---	---	capture		Silent	SNP	175087722	175087722	16864	1	C	A	A	29	29	TNN	A	2	2
LAMC1	3915	broad.mit.edu	37	1	183103915	183103915	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183103915C>A	uc001gpy.3	+	23	4227	c.3970C>A	c.(3970-3972)CTT>ATT	p.L1324I		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1324	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Missense_Mutation	SNP	183103915	183103915	8937	1	C	A	A	24	24	LAMC1	A	2	2
LAMC2	3918	broad.mit.edu	37	1	183177132	183177132	+	Nonsense_Mutation	SNP	G	T	T	rs146325169	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183177132G>T	uc001gqa.2	+	2	510	c.196G>T	c.(196-198)GAG>TAG	p.E66*	LAMC2_uc001gpz.3_Nonsense_Mutation_p.E66*|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	66	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	183177132	183177132	8938	1	G	T	T	37	37	LAMC2	T	5	1
TPR	7175	broad.mit.edu	37	1	186325463	186325463	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186325463G>T	uc001grv.2	-	15	2140	c.1843C>A	c.(1843-1845)CGT>AGT	p.R615S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	615					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	186325463	186325463	16960	1	G	T	T	39	39	TPR	T	1	1
TPR	7175	broad.mit.edu	37	1	186327695	186327695	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186327695C>A	uc001grv.2	-	13	1774	c.1477G>T	c.(1477-1479)GTA>TTA	p.V493L	TPR_uc010pop.1_Missense_Mutation_p.V569L	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	493	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	186327695	186327695	16960	1	C	A	A	20	20	TPR	A	2	2
PLA2G4A	5321	broad.mit.edu	37	1	186880486	186880486	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186880486C>T	uc001gsc.2	+	7	728	c.523C>T	c.(523-525)CCA>TCA	p.P175S	PLA2G4A_uc010pos.1_Intron	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	175	Phospholipid binding (Probable).|PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---	capture		Missense_Mutation	SNP	186880486	186880486	12427	1	C	T	T	30	30	PLA2G4A	T	2	2
RGS1	5996	broad.mit.edu	37	1	192547369	192547369	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192547369G>T	uc001gsi.1	+	4	364	c.298G>T	c.(298-300)GGA>TGA	p.G100*	RGS1_uc010pou.1_Nonsense_Mutation_p.G100*	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	100	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)																---	---	---	---	capture		Nonsense_Mutation	SNP	192547369	192547369	13766	1	G	T	T	47	47	RGS1	T	5	2
RGS13	6003	broad.mit.edu	37	1	192613497	192613497	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192613497G>T	uc001gsj.2	+	4	314	c.33G>T	c.(31-33)ATG>ATT	p.M11I	RGS13_uc001gsk.2_Missense_Mutation_p.M11I	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	11						plasma membrane	GTPase activator activity|signal transducer activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	192613497	192613497	13770	1	G	T	T	48	48	RGS13	T	2	2
UCHL5	51377	broad.mit.edu	37	1	192993077	192993077	+	Splice_Site	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192993077C>A	uc001gsm.2	-	8	761	c.630_splice	c.e8-1	p.K210_splice	UCHL5_uc001gsn.2_Splice_Site|UCHL5_uc001gso.2_Splice_Site_p.K210_splice|UCHL5_uc010pov.1_Splice_Site|UCHL5_uc001gsp.2_Splice_Site_p.K210_splice|UCHL5_uc001gsq.2_Splice_Site_p.K210_splice|UCHL5_uc010pow.1_Splice_Site_p.K86_splice|UCHL5_uc010pox.1_Splice_Site_p.K86_splice	NM_015984	NP_057068			ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|ovary(1)	3																		---	---	---	---	capture		Splice_Site	SNP	192993077	192993077	17480	1	C	A	A	24	24	UCHL5	A	5	2
FAM58B	339521	broad.mit.edu	37	1	200182884	200182884	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200182884G>T	uc009wzi.1	+	1	229	c.193G>T	c.(193-195)GAG>TAG	p.E65*		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	65					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)																	---	---	---	---	capture		Nonsense_Mutation	SNP	200182884	200182884	5813	1	G	T	T	37	37	FAM58B	T	5	1
ZNF281	23528	broad.mit.edu	37	1	200377843	200377843	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200377843G>T	uc001gve.2	-	2	1098	c.991C>A	c.(991-993)CAT>AAT	p.H331N	ZNF281_uc001gvf.1_Missense_Mutation_p.H331N|ZNF281_uc001gvg.1_Missense_Mutation_p.H295N	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	331	C2H2-type 3.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	200377843	200377843	18410	1	G	T	T	47	47	ZNF281	T	2	2
ZNF281	23528	broad.mit.edu	37	1	200378069	200378069	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200378069G>T	uc001gve.2	-	2	872	c.765C>A	c.(763-765)TCC>TCA	p.S255S	uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Silent_p.S255S|ZNF281_uc001gvg.1_Silent_p.S219S	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	255					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	200378069	200378069	18410	1	G	T	T	43	43	ZNF281	T	2	2
NFASC	23114	broad.mit.edu	37	1	204948632	204948632	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204948632G>T	uc001hbj.2	+	19	2449	c.2121G>T	c.(2119-2121)GAG>GAT	p.E707D	NFASC_uc010pra.1_Missense_Mutation_p.E703D|NFASC_uc001hbi.2_Missense_Mutation_p.E703D|NFASC_uc010prb.1_Missense_Mutation_p.E718D|NFASC_uc010prc.1_Missense_Mutation_p.E274D|NFASC_uc001hbk.1_Missense_Mutation_p.E513D|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	707	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---	capture		Missense_Mutation	SNP	204948632	204948632	10759	1	G	T	T	35	35	NFASC	T	2	2
DSTYK	25778	broad.mit.edu	37	1	205138464	205138464	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205138464A>T	uc001hbw.2	-	3	1215	c.1151T>A	c.(1150-1152)CTG>CAG	p.L384Q	DSTYK_uc001hbx.2_Missense_Mutation_p.L384Q|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	384						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	205138464	205138464	4969	1	A	T	T	7	7	DSTYK	T	4	4
SLC26A9	115019	broad.mit.edu	37	1	205888069	205888069	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205888069C>A	uc001hdq.2	-	19	2269	c.2155G>T	c.(2155-2157)GGG>TGG	p.G719W	SLC26A9_uc001hdm.2_5'Flank|SLC26A9_uc001hdn.2_5'Flank|SLC26A9_uc001hdo.2_Missense_Mutation_p.G387W|SLC26A9_uc001hdp.2_Missense_Mutation_p.G719W	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	719	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)													OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	205888069	205888069	15021	1	C	A	A	21	21	SLC26A9	A	2	2
CR2	1380	broad.mit.edu	37	1	207639906	207639906	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207639906G>T	uc001hfw.2	+	2	188	c.94G>T	c.(94-96)GGC>TGC	p.G32C	CR2_uc001hfv.2_Missense_Mutation_p.G32C|CR2_uc009xch.2_Missense_Mutation_p.G32C	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	32	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	207639906	207639906	3981	1	G	T	T	47	47	CR2	T	2	2
PLXNA2	5362	broad.mit.edu	37	1	208390811	208390811	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208390811G>T	uc001hgz.2	-	2	1215	c.457C>A	c.(457-459)CAC>AAC	p.H153N	PLXNA2_uc001hha.3_Missense_Mutation_p.H207N	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	153	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	208390811	208390811	12546	1	G	T	T	47	47	PLXNA2	T	2	2
TRAF3IP3	80342	broad.mit.edu	37	1	209955423	209955423	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209955423C>A	uc001hho.2	+	17	1876	c.1586C>A	c.(1585-1587)CCA>CAA	p.P529Q	TRAF3IP3_uc001hhn.2_Missense_Mutation_p.P509Q|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.P529Q	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	529	Helical; Anchor for type IV membrane protein; (Potential).		P -> S (in a colorectal cancer sample; somatic mutation).			integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)														---	---	---	---	capture		Missense_Mutation	SNP	209955423	209955423	16986	1	C	A	A	21	21	TRAF3IP3	A	2	2
TMEM206	55248	broad.mit.edu	37	1	212560296	212560296	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212560296C>A	uc001hjc.3	-	3	448	c.280G>T	c.(280-282)GAG>TAG	p.E94*	TMEM206_uc010pte.1_Nonsense_Mutation_p.E155*	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	94	Extracellular (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)														---	---	---	---	capture		Nonsense_Mutation	SNP	212560296	212560296	16666	1	C	A	A	29	29	TMEM206	A	5	2
C1orf227	149643	broad.mit.edu	37	1	213009399	213009399	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213009399G>T	uc001hjq.2	-	2	201	c.93C>A	c.(91-93)TCC>TCA	p.S31S		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	hypothetical protein LOC149643	31											0																		---	---	---	---	capture		Silent	SNP	213009399	213009399	2104	1	G	T	T	47	47	C1orf227	T	2	2
USH2A	7399	broad.mit.edu	37	1	216052154	216052154	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216052154A>T	uc001hku.1	-	42	8897	c.8510T>A	c.(8509-8511)GTT>GAT	p.V2837D		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2837	Extracellular (Potential).|Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Missense_Mutation	SNP	216052154	216052154	17598	1	A	T	T	2	2	USH2A	T	4	4
USH2A	7399	broad.mit.edu	37	1	216500991	216500991	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216500991C>A	uc001hku.1	-	5	1177	c.790G>T	c.(790-792)GAG>TAG	p.E264*	USH2A_uc001hkv.2_Nonsense_Mutation_p.E264*	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	264	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Nonsense_Mutation	SNP	216500991	216500991	17598	1	C	A	A	32	32	USH2A	A	5	2
MOSC2	54996	broad.mit.edu	37	1	220936300	220936300	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220936300C>A	uc001hmq.2	+	4	856	c.658C>A	c.(658-660)CTG>ATG	p.L220M	MOSC2_uc001hmr.2_Missense_Mutation_p.L220M|MOSC2_uc009xdx.2_Missense_Mutation_p.L220M	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	220	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)														---	---	---	---	capture		Missense_Mutation	SNP	220936300	220936300	10106	1	C	A	A	24	24	MOSC2	A	2	2
MIA3	375056	broad.mit.edu	37	1	222801477	222801477	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222801477G>A	uc001hnl.2	+	4	924	c.915G>A	c.(913-915)GAG>GAA	p.E305E	MIA3_uc009xea.1_Silent_p.E141E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	305	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)														---	---	---	---	capture		Silent	SNP	222801477	222801477	9955	1	G	A	A	35	35	MIA3	A	2	2
EPHX1	2052	broad.mit.edu	37	1	226016448	226016448	+	Silent	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226016448C>G	uc001hpk.2	+	2	98	c.18C>G	c.(16-18)CTC>CTG	p.L6L	EPHX1_uc001hpl.2_Silent_p.L6L	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	6	Helical; Signal-anchor; (Potential).				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)																	---	---	---	---	capture		Silent	SNP	226016448	226016448	5372	1	C	G	G	30	30	EPHX1	G	3	3
ITPKB	3707	broad.mit.edu	37	1	226923323	226923323	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226923323C>A	uc010pvo.1	-	2	2177	c.1837G>T	c.(1837-1839)GAA>TAA	p.E613*	ITPKB_uc001hqh.2_Nonsense_Mutation_p.E613*	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	613							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---	capture		Nonsense_Mutation	SNP	226923323	226923323	8222	1	C	A	A	31	31	ITPKB	A	5	1
GUK1	2987	broad.mit.edu	37	1	228334602	228334602	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228334602G>T	uc001hsh.2	+	5	517	c.214G>T	c.(214-216)GAG>TAG	p.E72*	GUK1_uc001hsi.2_Nonsense_Mutation_p.E93*|GUK1_uc001hsj.2_Nonsense_Mutation_p.E12*|GUK1_uc010pvv.1_Nonsense_Mutation_p.E72*|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	72	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)																---	---	---	---	capture		Nonsense_Mutation	SNP	228334602	228334602	7180	1	G	T	T	37	37	GUK1	T	5	1
B3GALNT2	148789	broad.mit.edu	37	1	235647796	235647796	+	Nonsense_Mutation	SNP	C	A	A	rs146090744	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235647796C>A	uc001hxc.2	-	4	626	c.397G>T	c.(397-399)GAA>TAA	p.E133*	B3GALNT2_uc001hxd.1_Nonsense_Mutation_p.E174*	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	133	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)															---	---	---	---	capture		Nonsense_Mutation	SNP	235647796	235647796	1267	1	C	A	A	31	31	B3GALNT2	A	5	1
ERO1LB	56605	broad.mit.edu	37	1	236388417	236388417	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236388417C>A	uc001hxt.2	-	13	1331	c.1075G>T	c.(1075-1077)GAG>TAG	p.E359*		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	359					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---	capture		Nonsense_Mutation	SNP	236388417	236388417	5433	1	C	A	A	29	29	ERO1LB	A	5	2
LGALS8	3964	broad.mit.edu	37	1	236703932	236703932	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236703932G>T	uc001hxz.1	+	6	795	c.414G>T	c.(412-414)CTG>CTT	p.L138L	LGALS8_uc001hxw.1_Silent_p.L138L|LGALS8_uc001hxy.1_Silent_p.L138L|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Silent_p.L138L|LGALS8_uc001hyb.1_Silent_p.L138L|LGALS8_uc001hyc.1_Intron	NM_201543	NP_963837	O00214	LEG8_HUMAN	galectin-8 isoform b	138	Galectin 1.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---	capture		Silent	SNP	236703932	236703932	9073	1	G	T	T	47	47	LGALS8	T	2	2
ACTN2	88	broad.mit.edu	37	1	236925848	236925848	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236925848C>A	uc001hyf.2	+	21	2818	c.2614C>A	c.(2614-2616)CCA>ACA	p.P872T	ACTN2_uc001hyg.2_Missense_Mutation_p.P664T|ACTN2_uc009xgi.1_Missense_Mutation_p.P872T|ACTN2_uc010pxu.1_Missense_Mutation_p.P561T|ACTN2_uc001hyh.2_Missense_Mutation_p.P560T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	872					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---	capture		Missense_Mutation	SNP	236925848	236925848	206	1	C	A	A	22	22	ACTN2	A	2	2
FMN2	56776	broad.mit.edu	37	1	240497236	240497236	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240497236A>G	uc010pyd.1	+	12	4859	c.4634A>G	c.(4633-4635)AAT>AGT	p.N1545S	FMN2_uc010pye.1_Missense_Mutation_p.N1549S|FMN2_uc010pyf.1_Missense_Mutation_p.N191S|FMN2_uc010pyg.1_Missense_Mutation_p.N141S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1545	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---	capture		Missense_Mutation	SNP	240497236	240497236	6192	1	A	G	G	4	4	FMN2	G	4	4
AKT3	10000	broad.mit.edu	37	1	243708878	243708878	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243708878A>C	uc001iab.1	-	11	1266	c.1185T>G	c.(1183-1185)GAT>GAG	p.D395E	AKT3_uc001hzz.1_Missense_Mutation_p.D395E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	395	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)															---	---	---	---	capture		Missense_Mutation	SNP	243708878	243708878	484	1	A	C	C	8	8	AKT3	C	4	4
OR6F1	343169	broad.mit.edu	37	1	247875492	247875492	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875492C>A	uc001idj.1	-	1	566	c.566G>T	c.(565-567)TGC>TTC	p.C189F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---	capture		Missense_Mutation	SNP	247875492	247875492	11611	1	C	A	A	25	25	OR6F1	A	2	2
OR14A16	284532	broad.mit.edu	37	1	247978481	247978481	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978481G>A	uc001idm.1	-	1	551	c.551C>T	c.(550-552)GCT>GTT	p.A184V		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	247978481	247978481	11351	1	G	A	A	34	34	OR14A16	A	2	2
TRIM58	25893	broad.mit.edu	37	1	248039501	248039501	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248039501G>T	uc001ido.2	+	6	1219	c.1171G>T	c.(1171-1173)GAG>TAG	p.E391*	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	391	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---	capture		Nonsense_Mutation	SNP	248039501	248039501	17077	1	G	T	T	45	45	TRIM58	T	5	2
OR2L2	26246	broad.mit.edu	37	1	248201612	248201612	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248201612G>T	uc001idw.2	+	1	139	c.43G>T	c.(43-45)GGG>TGG	p.G15W	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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;0.0278)															---	---	---	---	capture		Missense_Mutation	SNP	248201612	248201612	11413	1	G	T	T	43	43	OR2L2	T	2	2
GTPBP4	23560	broad.mit.edu	37	10	1043210	1043210	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1043210G>T	uc001ift.2	+	5	594	c.523G>T	c.(523-525)GGG>TGG	p.G175W	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.G59W|GTPBP4_uc010qae.1_Missense_Mutation_p.G128W	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	175	GTP (Potential).				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	1043210	1043210	7162	10	G	T	T	47	47	GTPBP4	T	2	2
DHTKD1	55526	broad.mit.edu	37	10	12142201	12142201	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12142201G>T	uc001ild.3	+	9	1795	c.1696G>T	c.(1696-1698)GGA>TGA	p.G566*		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	566					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)															---	---	---	---	capture		Nonsense_Mutation	SNP	12142201	12142201	4679	10	G	T	T	39	39	DHTKD1	T	5	1
DHTKD1	55526	broad.mit.edu	37	10	12159705	12159705	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12159705G>T	uc001ild.3	+	14	2452	c.2353G>T	c.(2353-2355)GGA>TGA	p.G785*		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	785					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)															---	---	---	---	capture		Nonsense_Mutation	SNP	12159705	12159705	4679	10	G	T	T	35	35	DHTKD1	T	5	2
CAMK1D	57118	broad.mit.edu	37	10	12856243	12856243	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12856243G>T	uc001ilo.2	+	7	926	c.691G>T	c.(691-693)GAG>TAG	p.E231*	CAMK1D_uc001iln.2_Nonsense_Mutation_p.E231*	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	231	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)														---	---	---	---	capture		Nonsense_Mutation	SNP	12856243	12856243	2714	10	G	T	T	45	45	CAMK1D	T	5	2
SEPHS1	22929	broad.mit.edu	37	10	13361282	13361282	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13361282C>A	uc001imk.2	-	9	1398	c.1039G>T	c.(1039-1041)GAA>TAA	p.E347*	SEPHS1_uc001imh.2_Nonsense_Mutation_p.E271*|SEPHS1_uc010qbs.1_Nonsense_Mutation_p.E299*|SEPHS1_uc001imi.2_Nonsense_Mutation_p.E345*|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Nonsense_Mutation_p.E280*	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	347					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	13361282	13361282	14540	10	C	A	A	29	29	SEPHS1	A	5	2
OLAH	55301	broad.mit.edu	37	10	15107628	15107628	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15107628G>A	uc001inu.2	+	6	702	c.448G>A	c.(448-450)GAA>AAA	p.E150K	ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.E203K	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 2	150					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	15107628	15107628	11256	10	G	A	A	33	33	OLAH	A	2	2
OLAH	55301	broad.mit.edu	37	10	15115133	15115133	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15115133G>C	uc001inu.2	+	8	957	c.703G>C	c.(703-705)GGG>CGG	p.G235R	ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.G288R	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 2	235					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	15115133	15115133	11256	10	G	C	C	35	35	OLAH	C	3	3
CUBN	8029	broad.mit.edu	37	10	16955880	16955880	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16955880C>A	uc001ioo.2	-	48	7515	c.7463G>T	c.(7462-7464)AGG>ATG	p.R2488M		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2488	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	16955880	16955880	4211	10	C	A	A	24	24	CUBN	A	2	2
MLLT10	8028	broad.mit.edu	37	10	22002776	22002776	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22002776C>T	uc001iqs.2	+	15	2171	c.1823C>T	c.(1822-1824)TCC>TTC	p.S608F	MLLT10_uc001iqt.2_Missense_Mutation_p.S592F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S592F|MLLT10_uc001ira.2_Missense_Mutation_p.S49F|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	608	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2								T	MLL|PICALM|CDK6	AL								---	---	---	---	capture		Missense_Mutation	SNP	22002776	22002776	10016	10	C	T	T	30	30	MLLT10	T	2	2
RAB18	22931	broad.mit.edu	37	10	27821474	27821474	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27821474C>A	uc001itv.2	+	4	275	c.225C>A	c.(223-225)CCC>CCA	p.P75P	RAB18_uc001itw.2_Silent_p.P104P|RAB18_uc010qdq.1_Silent_p.P75P|RAB18_uc010qdr.1_Intron	NM_021252	NP_067075	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	75					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding				0																		---	---	---	---	capture		Silent	SNP	27821474	27821474	13362	10	C	A	A	21	21	RAB18	A	2	2
SVIL	6840	broad.mit.edu	37	10	29770521	29770521	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29770521G>T	uc001iut.1	-	28	5845	c.5092C>A	c.(5092-5094)CAG>AAG	p.Q1698K	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.Q612K|SVIL_uc001iuu.1_Missense_Mutation_p.Q1272K|SVIL_uc009xlc.2_Missense_Mutation_p.Q490K	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1698					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---	capture		Missense_Mutation	SNP	29770521	29770521	15941	10	G	T	T	47	47	SVIL	T	2	2
KIAA1462	57608	broad.mit.edu	37	10	30316780	30316780	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30316780C>A	uc001iux.2	-	2	2356	c.2297G>T	c.(2296-2298)AGG>ATG	p.R766M	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R628M|KIAA1462_uc009xle.1_Missense_Mutation_p.R766M	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	766										ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30316780	30316780	8543	10	C	A	A	24	24	KIAA1462	A	2	2
KIF5B	3799	broad.mit.edu	37	10	32324501	32324501	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32324501G>T	uc001iwe.3	-	10	1381	c.911C>A	c.(910-912)CCA>CAA	p.P304Q		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	304	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)																---	---	---	---	capture		Missense_Mutation	SNP	32324501	32324501	8617	10	G	T	T	47	47	KIF5B	T	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37438709	37438709	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37438709C>A	uc001iza.1	+	11	1508	c.1409C>A	c.(1408-1410)GCC>GAC	p.A470D		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	37438709	37438709	663	10	C	A	A	26	26	ANKRD30A	A	2	2
ZNF37A	7587	broad.mit.edu	37	10	38406546	38406546	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38406546C>A	uc001izk.2	+	8	1286	c.467C>A	c.(466-468)CCT>CAT	p.P156H	ZNF37A_uc001izl.2_Missense_Mutation_p.P156H|ZNF37A_uc001izm.2_Missense_Mutation_p.P156H	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	156	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38406546	38406546	18464	10	C	A	A	24	24	ZNF37A	A	2	2
ZNF485	220992	broad.mit.edu	37	10	44111981	44111981	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44111981G>T	uc010qfc.1	+	5	684	c.490G>T	c.(490-492)GGG>TGG	p.G164W	ZNF485_uc010qfd.1_Missense_Mutation_p.G73W	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	164	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44111981	44111981	18532	10	G	T	T	47	47	ZNF485	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55582824	55582824	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582824G>T	uc001jju.1	-	33	5057	c.4662C>A	c.(4660-4662)CCC>CCA	p.P1554P	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1551P|PCDH15_uc010qhw.1_Silent_p.P1514P|PCDH15_uc010qhx.1_Silent_p.P1485P|PCDH15_uc010qhy.1_Silent_p.P1561P|PCDH15_uc010qhz.1_Silent_p.P1556P|PCDH15_uc010qia.1_Silent_p.P1534P|PCDH15_uc010qib.1_Silent_p.P1531P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1554	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Silent	SNP	55582824	55582824	11931	10	G	T	T	47	47	PCDH15	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55912957	55912957	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55912957C>T	uc001jju.1	-	14	2082	c.1687G>A	c.(1687-1689)GGG>AGG	p.G563R	PCDH15_uc010qhq.1_Missense_Mutation_p.G568R|PCDH15_uc010qhr.1_Missense_Mutation_p.G563R|PCDH15_uc010qhs.1_Missense_Mutation_p.G575R|PCDH15_uc010qht.1_Missense_Mutation_p.G570R|PCDH15_uc010qhu.1_Missense_Mutation_p.G563R|PCDH15_uc001jjv.1_Missense_Mutation_p.G541R|PCDH15_uc010qhv.1_Missense_Mutation_p.G563R|PCDH15_uc010qhw.1_Missense_Mutation_p.G526R|PCDH15_uc010qhx.1_Missense_Mutation_p.G563R|PCDH15_uc010qhy.1_Missense_Mutation_p.G568R|PCDH15_uc010qhz.1_Missense_Mutation_p.G563R|PCDH15_uc010qia.1_Missense_Mutation_p.G541R|PCDH15_uc010qib.1_Missense_Mutation_p.G541R|PCDH15_uc001jjw.2_Missense_Mutation_p.G563R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	563	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	55912957	55912957	11931	10	C	T	T	24	24	PCDH15	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55913005	55913005	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55913005C>A	uc001jju.1	-	14	2034	c.1639G>T	c.(1639-1641)GAA>TAA	p.E547*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.E552*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.E559*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E554*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.E547*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.E525*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E510*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.E552*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E525*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E525*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.E547*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	547	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Nonsense_Mutation	SNP	55913005	55913005	11931	10	C	A	A	29	29	PCDH15	A	5	2
FAM13C	220965	broad.mit.edu	37	10	61011407	61011407	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61011407G>T	uc001jkn.2	-	14	1696	c.1562C>A	c.(1561-1563)ACT>AAT	p.T521N	FAM13C_uc001jko.2_Missense_Mutation_p.T423N|FAM13C_uc010qid.1_Missense_Mutation_p.T437N|FAM13C_uc010qie.1_Missense_Mutation_p.T438N|FAM13C_uc010qif.1_Missense_Mutation_p.T543N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	521										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	61011407	61011407	5651	10	G	T	T	36	36	FAM13C	T	2	2
NRBF2	29982	broad.mit.edu	37	10	64893254	64893254	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64893254C>A	uc001jmj.3	+	1	248	c.24C>A	c.(22-24)CTC>CTA	p.L8L	NRBF2_uc010qip.1_Missense_Mutation_p.Q27K	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	8					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding				0	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---	capture		Silent	SNP	64893254	64893254	11046	10	C	A	A	29	29	NRBF2	A	2	2
PPP3CB	5532	broad.mit.edu	37	10	75234751	75234751	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75234751G>T	uc001jue.2	-	4	584	c.449C>A	c.(448-450)CCA>CAA	p.P150Q	PPP3CB_uc001juf.2_Missense_Mutation_p.P150Q|PPP3CB_uc001jug.2_Missense_Mutation_p.P150Q|PPP3CB_uc001jui.2_Missense_Mutation_p.P168Q|PPP3CB_uc001juh.2_Missense_Mutation_p.P64Q	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	150	Catalytic.									skin(1)	1	Prostate(51;0.0119)																	---	---	---	---	capture		Missense_Mutation	SNP	75234751	75234751	12834	10	G	T	T	47	47	PPP3CB	T	2	2
ZNF503	84858	broad.mit.edu	37	10	77159413	77159413	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:77159413C>A	uc001jxg.2	-	2	1371	c.1035G>T	c.(1033-1035)CCG>CCT	p.P345P	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)																	---	---	---	---	capture		Silent	SNP	77159413	77159413	18545	10	C	A	A	23	23	ZNF503	A	1	1
IFIT5	24138	broad.mit.edu	37	10	91177842	91177842	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91177842C>A	uc010qnh.1	+	2	1117	c.886C>A	c.(886-888)CAA>AAA	p.Q296K	IFIT5_uc010qng.1_Missense_Mutation_p.Q248K	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	296							binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	91177842	91177842	7826	10	C	A	A	17	17	IFIT5	A	2	2
PLCE1	51196	broad.mit.edu	37	10	96018841	96018841	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96018841G>T	uc001kjk.2	+	13	4382	c.3748G>T	c.(3748-3750)GAG>TAG	p.E1250*	PLCE1_uc010qnx.1_Nonsense_Mutation_p.E1234*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.E942*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1250					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---	capture		Nonsense_Mutation	SNP	96018841	96018841	12460	10	G	T	T	37	37	PLCE1	T	5	1
TCTN3	26123	broad.mit.edu	37	10	97423886	97423886	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97423886C>T	uc001klb.3	-	14	2006	c.1762G>A	c.(1762-1764)GTC>ATC	p.V588I	TCTN3_uc001kla.3_Missense_Mutation_p.V432I|TCTN3_uc010qoi.1_Missense_Mutation_p.V440I	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	588	Helical; (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)														---	---	---	---	capture		Missense_Mutation	SNP	97423886	97423886	16250	10	C	T	T	20	20	TCTN3	T	2	2
GOT1	2805	broad.mit.edu	37	10	101163490	101163490	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101163490C>A	uc001kpr.2	-	6	992	c.784G>T	c.(784-786)GGG>TGG	p.G262W	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_Intron	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	262					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	101163490	101163490	6852	10	C	A	A	23	23	GOT1	A	1	1
FAM178A	55719	broad.mit.edu	37	10	102716225	102716225	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102716225C>A	uc001krt.3	+	18	3890	c.3348C>A	c.(3346-3348)CTC>CTA	p.L1116L	FAM178A_uc001krs.2_Silent_p.L1116L	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1116											0																		---	---	---	---	capture		Silent	SNP	102716225	102716225	5709	10	C	A	A	32	32	FAM178A	A	2	2
SUFU	51684	broad.mit.edu	37	10	104352370	104352370	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104352370C>A	uc001kvy.1	+	4	632	c.486C>A	c.(484-486)TCC>TCA	p.S162S	SUFU_uc001kvw.1_Silent_p.S162S|SUFU_uc001kvx.2_Silent_p.S162S	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	162					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)				D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				---	---	---	---	capture		Silent	SNP	104352370	104352370	15888	10	C	A	A	24	24	SUFU	A	2	2
NT5C2	22978	broad.mit.edu	37	10	104853029	104853029	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104853029C>A	uc001kwo.2	-	15	1212	c.1026G>T	c.(1024-1026)AAG>AAT	p.K342N	NT5C2_uc010qqp.1_Missense_Mutation_p.K313N|NT5C2_uc001kwq.2_Missense_Mutation_p.K342N|NT5C2_uc001kwp.2_Missense_Mutation_p.K189N	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	342					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)													---	---	---	---	capture		Missense_Mutation	SNP	104853029	104853029	11092	10	C	A	A	24	24	NT5C2	A	2	2
C10orf79	80217	broad.mit.edu	37	10	105921789	105921789	+	Missense_Mutation	SNP	G	T	T	rs145489927		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105921789G>T	uc001kxw.2	-	26	3460	c.3344C>A	c.(3343-3345)ACA>AAA	p.T1115K	C10orf79_uc009xxq.2_Missense_Mutation_p.T423K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1115											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---	capture		Missense_Mutation	SNP	105921789	105921789	1655	10	G	T	T	48	48	C10orf79	T	2	2
ACSL5	51703	broad.mit.edu	37	10	114181721	114181721	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114181721C>A	uc001kzs.2	+	16	1545	c.1404C>A	c.(1402-1404)CCC>CCA	p.P468P	ACSL5_uc001kzt.2_Silent_p.P468P|ACSL5_uc001kzu.2_Silent_p.P524P|ACSL5_uc009xxz.2_Silent_p.P468P|ACSL5_uc010qrj.1_Silent_p.P250P	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	468	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)														---	---	---	---	capture		Silent	SNP	114181721	114181721	181	10	C	A	A	22	22	ACSL5	A	2	2
DMBT1	1755	broad.mit.edu	37	10	124399962	124399962	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124399962G>T	uc001lgk.1	+	52	7068	c.6962G>T	c.(6961-6963)AGT>ATT	p.S2321I	DMBT1_uc001lgl.1_Missense_Mutation_p.S2311I|DMBT1_uc001lgm.1_Missense_Mutation_p.S1693I|DMBT1_uc009xzz.1_Missense_Mutation_p.S2320I|DMBT1_uc010qtx.1_Missense_Mutation_p.S1041I|DMBT1_uc009yab.1_Missense_Mutation_p.S1024I|DMBT1_uc009yac.1_Missense_Mutation_p.S615I	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2321	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---	capture		Missense_Mutation	SNP	124399962	124399962	4757	10	G	T	T	36	36	DMBT1	T	2	2
MKI67	4288	broad.mit.edu	37	10	129903464	129903464	+	Nonsense_Mutation	SNP	C	A	A	rs148027445		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129903464C>A	uc001lke.2	-	13	6835	c.6640G>T	c.(6640-6642)GAG>TAG	p.E2214*	MKI67_uc001lkf.2_Nonsense_Mutation_p.E1854*|MKI67_uc009yav.1_Nonsense_Mutation_p.E1789*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E1364*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2214	16 X 122 AA approximate repeats.|11.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---	capture		Nonsense_Mutation	SNP	129903464	129903464	9988	10	C	A	A	29	29	MKI67	A	5	2
MKI67	4288	broad.mit.edu	37	10	129907569	129907569	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907569G>T	uc001lke.2	-	13	2730	c.2535C>A	c.(2533-2535)CCC>CCA	p.P845P	MKI67_uc001lkf.2_Silent_p.P485P|MKI67_uc009yav.1_Silent_p.P420P|MKI67_uc009yaw.1_5'UTR	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	845					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---	capture		Silent	SNP	129907569	129907569	9988	10	G	T	T	47	47	MKI67	T	2	2
GLRX3	10539	broad.mit.edu	37	10	131959237	131959237	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131959237G>T	uc001lkm.1	+	4	476	c.454G>T	c.(454-456)GGA>TGA	p.G152*	GLRX3_uc001lkn.1_Nonsense_Mutation_p.G152*|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	152	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)														---	---	---	---	capture		Nonsense_Mutation	SNP	131959237	131959237	6729	10	G	T	T	35	35	GLRX3	T	5	2
ADAM8	101	broad.mit.edu	37	10	135076680	135076680	+	Nonsense_Mutation	SNP	C	A	A	rs58683011		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135076680C>A	uc010qva.1	-	20	2233	c.2182G>T	c.(2182-2184)GGA>TGA	p.G728*	ADAM8_uc010quz.1_Splice_Site_p.A818_splice|ADAM8_uc009ybi.2_3'UTR			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	728					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)														---	---	---	---	capture		Nonsense_Mutation	SNP	135076680	135076680	253	10	C	A	A	23	23	ADAM8	A	5	1
CD81	975	broad.mit.edu	37	11	2415351	2415351	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2415351G>A	uc001lwf.1	+	3	441	c.208G>A	c.(208-210)GCT>ACT	p.A70T	CD81_uc001lwg.1_Missense_Mutation_p.A63T|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	70	Helical; (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---	capture		Missense_Mutation	SNP	2415351	2415351	3167	11	G	A	A	38	38	CD81	A	1	1
OR52I2	143502	broad.mit.edu	37	11	4608225	4608225	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4608225G>T	uc010qyh.1	+	1	183	c.183G>T	c.(181-183)CTG>CTT	p.L61L		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	61	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Silent	SNP	4608225	4608225	11531	11	G	T	T	45	45	OR52I2	T	2	2
OR51A2	401667	broad.mit.edu	37	11	4976459	4976459	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4976459G>T	uc010qyt.1	-	1	485	c.485C>A	c.(484-486)CCT>CAT	p.P162H		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4976459	4976459	11496	11	G	T	T	35	35	OR51A2	T	2	2
OR52D1	390066	broad.mit.edu	37	11	5510553	5510553	+	Missense_Mutation	SNP	C	A	A	rs142747961	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5510553C>A	uc010qzg.1	+	1	617	c.617C>A	c.(616-618)GCT>GAT	p.A206D	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5510553	5510553	11524	11	C	A	A	28	28	OR52D1	A	2	2
DNHD1	144132	broad.mit.edu	37	11	6519958	6519958	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6519958G>T	uc001mdw.3	+	3	1077	c.513G>T	c.(511-513)CAG>CAT	p.Q171H	DNHD1_uc001mdp.2_Missense_Mutation_p.Q171H	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	171					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---	capture		Missense_Mutation	SNP	6519958	6519958	4851	11	G	T	T	36	36	DNHD1	T	2	2
RRP8	23378	broad.mit.edu	37	11	6621950	6621950	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6621950C>T	uc001med.2	-	5	1182	c.1103G>A	c.(1102-1104)GGA>GAA	p.G368E		NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	368					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	6621950	6621950	14170	11	C	T	T	30	30	RRP8	T	2	2
DCHS1	8642	broad.mit.edu	37	11	6650040	6650040	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6650040G>T	uc001mem.1	-	13	5593	c.5183C>A	c.(5182-5184)TCA>TAA	p.S1728*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1728	Cadherin 16.|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		Nonsense_Mutation	SNP	6650040	6650040	4458	11	G	T	T	45	45	DCHS1	T	5	2
STK33	65975	broad.mit.edu	37	11	8486319	8486319	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8486319G>T	uc001mgi.1	-	3	1309	c.390C>A	c.(388-390)GTC>GTA	p.V130V	STK33_uc001mgj.1_Silent_p.V130V|STK33_uc001mgk.1_Silent_p.V130V|STK33_uc010rbn.1_Silent_p.V89V|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	130	Protein kinase.|ATP (By similarity).					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)														---	---	---	---	capture		Silent	SNP	8486319	8486319	15820	11	G	T	T	45	45	STK33	T	2	2
EIF4G2	1982	broad.mit.edu	37	11	10822571	10822571	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10822571G>T	uc001mjc.2	-	15	1894	c.1477C>A	c.(1477-1479)CAG>AAG	p.Q493K	EIF4G2_uc001mjb.2_Missense_Mutation_p.Q287K|EIF4G2_uc009ygf.2_Missense_Mutation_p.Q287K|EIF4G2_uc001mjd.2_Missense_Mutation_p.Q455K|EIF4G2_uc001mjf.1_Missense_Mutation_p.Q249K	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	493					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	10822571	10822571	5228	11	G	T	T	47	47	EIF4G2	T	2	2
PIK3C2A	5286	broad.mit.edu	37	11	17177164	17177164	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17177164C>A	uc001mmq.3	-	2	1144	c.1078G>T	c.(1078-1080)GGG>TGG	p.G360W	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_5'UTR|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.G360W|PIK3C2A_uc009ygv.1_Missense_Mutation_p.G360W	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	360					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)													---	---	---	---	capture		Missense_Mutation	SNP	17177164	17177164	12333	11	C	A	A	21	21	PIK3C2A	A	2	2
NUCB2	4925	broad.mit.edu	37	11	17333433	17333433	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17333433G>T	uc001mmw.2	+	9	1020	c.775G>T	c.(775-777)GGA>TGA	p.G259*	NUCB2_uc001mmv.1_Nonsense_Mutation_p.G259*|NUCB2_uc009ygz.2_Nonsense_Mutation_p.G259*	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	259	1.|Binds to necdin (By similarity).|EF-hand 1.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	17333433	17333433	11124	11	G	T	T	47	47	NUCB2	T	5	2
USH1C	10083	broad.mit.edu	37	11	17554802	17554802	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17554802T>C	uc001mnf.2	-	2	213	c.104A>G	c.(103-105)CAG>CGG	p.Q35R	USH1C_uc001mne.2_Missense_Mutation_p.Q35R|USH1C_uc009yhb.2_Missense_Mutation_p.Q35R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	35					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17554802	17554802	17596	11	T	C	C	55	55	USH1C	C	4	4
NELL1	4745	broad.mit.edu	37	11	21592429	21592429	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:21592429C>A	uc001mqe.2	+	18	2253	c.2100C>A	c.(2098-2100)CAC>CAA	p.H700Q	NELL1_uc001mqf.2_Missense_Mutation_p.H653Q|NELL1_uc009yid.2_Missense_Mutation_p.H728Q|NELL1_uc010rdo.1_Missense_Mutation_p.H643Q|NELL1_uc010rdp.1_Missense_Mutation_p.H413Q|NELL1_uc001mqh.2_Missense_Mutation_p.H245Q	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	700	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	21592429	21592429	10732	11	C	A	A	17	17	NELL1	A	2	2
FANCF	2188	broad.mit.edu	37	11	22646316	22646316	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22646316C>A	uc001mql.1	-	1	1072	c.1041G>T	c.(1039-1041)TGG>TGT	p.W347C		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	347					DNA repair	nucleoplasm	protein binding			skin(1)	1								N|F			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	22646316	22646316	5903	11	C	A	A	30	30	FANCF	A	2	2
SLC5A12	159963	broad.mit.edu	37	11	26718757	26718757	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26718757C>A	uc001mra.2	-	8	1307	c.994G>T	c.(994-996)GGA>TGA	p.G332*	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.G332*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	332	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	26718757	26718757	15161	11	C	A	A	24	24	SLC5A12	A	5	2
CCDC73	493860	broad.mit.edu	37	11	32697516	32697516	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32697516G>T	uc001mtv.2	-	8	525	c.481C>A	c.(481-483)CTG>ATG	p.L161M	CCDC73_uc001mtw.1_Missense_Mutation_p.L161M	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	161	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)																	---	---	---	---	capture		Missense_Mutation	SNP	32697516	32697516	2969	11	G	T	T	36	36	CCDC73	T	2	2
QSER1	79832	broad.mit.edu	37	11	32997982	32997982	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32997982G>T	uc001mty.2	+	13	5437	c.5170G>T	c.(5170-5172)GGA>TGA	p.G1724*	QSER1_uc001mtz.1_Nonsense_Mutation_p.G1485*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1724										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)																	---	---	---	---	capture		Nonsense_Mutation	SNP	32997982	32997982	13340	11	G	T	T	47	47	QSER1	T	5	2
SLC1A2	6506	broad.mit.edu	37	11	35313848	35313848	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35313848C>A	uc001mwd.2	-	7	1669	c.1077G>T	c.(1075-1077)CTG>CTT	p.L359L	SLC1A2_uc001mwe.2_Silent_p.L350L|SLC1A2_uc010rev.1_Silent_p.L359L	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	359					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)													---	---	---	---	capture		Silent	SNP	35313848	35313848	14928	11	C	A	A	21	21	SLC1A2	A	2	2
RAG2	5897	broad.mit.edu	37	11	36614794	36614794	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36614794G>T	uc001mwv.3	-	2	1113	c.925C>A	c.(925-927)CCA>ACA	p.P309T	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	309					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)												Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---	capture		Missense_Mutation	SNP	36614794	36614794	13465	11	G	T	T	43	43	RAG2	T	2	2
API5	8539	broad.mit.edu	37	11	43348096	43348096	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43348096G>T	uc010rfh.1	+	7	963	c.790G>T	c.(790-792)GAG>TAG	p.E264*	API5_uc010rfg.1_Nonsense_Mutation_p.E253*|API5_uc001mxf.2_Nonsense_Mutation_p.E264*|API5_uc010rfi.1_Nonsense_Mutation_p.E210*|API5_uc001mxg.2_Nonsense_Mutation_p.E138*	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	264					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	43348096	43348096	783	11	G	T	T	45	45	API5	T	5	2
ALKBH3	221120	broad.mit.edu	37	11	43923276	43923276	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43923276G>T	uc001mxs.2	+	8	1112	c.669_splice	c.e8+1	p.P223_splice	ALKBH3_uc009ykp.2_Splice_Site|ALKBH3_uc001mxt.2_Splice_Site|ALKBH3_uc009ykq.2_Splice_Site_p.P76_splice	NM_139178	NP_631917			AlkB homolog 3						DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)								Direct_reversal_of_damage					---	---	---	---	capture		Splice_Site	SNP	43923276	43923276	531	11	G	T	T	36	36	ALKBH3	T	5	2
ACCS	84680	broad.mit.edu	37	11	44098922	44098922	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44098922G>T	uc009yks.1	+	7	794	c.650G>T	c.(649-651)AGT>ATT	p.S217I	EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Missense_Mutation_p.Q129H|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.S217I	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	217							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	44098922	44098922	134	11	G	T	T	36	36	ACCS	T	2	2
CKAP5	9793	broad.mit.edu	37	11	46829630	46829630	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46829630G>T	uc001ndi.1	-	8	1039	c.929C>A	c.(928-930)CCC>CAC	p.P310H	CKAP5_uc009ylg.1_Missense_Mutation_p.P196H|CKAP5_uc001ndj.1_Missense_Mutation_p.P310H	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	310					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	46829630	46829630	3581	11	G	T	T	43	43	CKAP5	T	2	2
OR4A15	81328	broad.mit.edu	37	11	55136162	55136162	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55136162G>C	uc010rif.1	+	1	803	c.803G>C	c.(802-804)TGT>TCT	p.C268S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	268	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55136162	55136162	11446	11	G	C	C	48	48	OR4A15	C	3	3
OR5D18	219438	broad.mit.edu	37	11	55587238	55587238	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587238G>T	uc010rin.1	+	1	133	c.133G>T	c.(133-135)GGG>TGG	p.G45W		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	45	Helical; Name=1; (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	55587238	55587238	11567	11	G	T	T	47	47	OR5D18	T	2	2
OR8H3	390152	broad.mit.edu	37	11	55890145	55890145	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890145C>A	uc001nii.1	+	1	297	c.297C>A	c.(295-297)GCC>GCA	p.A99A		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Silent	SNP	55890145	55890145	11650	11	C	A	A	22	22	OR8H3	A	2	2
OR5M1	390168	broad.mit.edu	37	11	56380119	56380119	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56380119G>T	uc001nja.1	-	1	860	c.860C>A	c.(859-861)CCA>CAA	p.P287Q		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	56380119	56380119	11582	11	G	T	T	47	47	OR5M1	T	2	2
GLYATL1	92292	broad.mit.edu	37	11	58722700	58722700	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58722700C>A	uc001nnf.2	+	7	741	c.365C>A	c.(364-366)TCA>TAA	p.S122*	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Nonsense_Mutation_p.S153*|GLYATL1_uc001nni.1_Nonsense_Mutation_p.S122*|GLYATL1_uc001nnj.1_Nonsense_Mutation_p.S122*			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	122						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---	capture		Nonsense_Mutation	SNP	58722700	58722700	6748	11	C	A	A	29	29	GLYATL1	A	5	2
AHNAK	79026	broad.mit.edu	37	11	62290234	62290234	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62290234G>T	uc001ntl.2	-	5	11955	c.11655C>A	c.(11653-11655)CCC>CCA	p.P3885P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3885					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---	capture		Silent	SNP	62290234	62290234	417	11	G	T	T	47	47	AHNAK	T	2	2
AHNAK	79026	broad.mit.edu	37	11	62295502	62295502	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62295502G>T	uc001ntl.2	-	5	6687	c.6387C>A	c.(6385-6387)CCC>CCA	p.P2129P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2129					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---	capture		Silent	SNP	62295502	62295502	417	11	G	T	T	47	47	AHNAK	T	2	2
PACS1	55690	broad.mit.edu	37	11	66006656	66006656	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66006656C>A	uc001oha.1	+	21	2471	c.2337C>A	c.(2335-2337)TCC>TCA	p.S779S	PACS1_uc010rou.1_Silent_p.S315S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	779					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6																		---	---	---	---	capture		Silent	SNP	66006656	66006656	11788	11	C	A	A	21	21	PACS1	A	2	2
TPCN2	219931	broad.mit.edu	37	11	68822717	68822717	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68822717C>A	uc001oos.2	+	4	442	c.326C>A	c.(325-327)GCG>GAG	p.A109E	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.A109E	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	109	Extracellular (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	68822717	68822717	16940	11	C	A	A	27	27	TPCN2	A	1	1
FCHSD2	9873	broad.mit.edu	37	11	72695219	72695219	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72695219C>A	uc009ytl.2	-	8	840	c.619G>T	c.(619-621)GCA>TCA	p.A207S	FCHSD2_uc010rrg.1_Missense_Mutation_p.A47S|FCHSD2_uc001oth.3_Missense_Mutation_p.A151S|FCHSD2_uc001oti.2_Missense_Mutation_p.A166S	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	207							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)															---	---	---	---	capture		Missense_Mutation	SNP	72695219	72695219	6027	11	C	A	A	27	27	FCHSD2	A	1	1
P2RY6	5031	broad.mit.edu	37	11	73007627	73007627	+	Nonsense_Mutation	SNP	G	T	T	rs61745521	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73007627G>T	uc001otm.2	+	4	469	c.64G>T	c.(64-66)GAG>TAG	p.E22*	P2RY6_uc001otn.2_Nonsense_Mutation_p.E22*|P2RY6_uc001oto.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otp.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otq.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otr.2_Nonsense_Mutation_p.E22*|P2RY6_uc001ots.2_Nonsense_Mutation_p.E22*	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	22	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	73007627	73007627	11767	11	G	T	T	37	37	P2RY6	T	5	1
MOGAT2	80168	broad.mit.edu	37	11	75442295	75442295	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75442295C>G	uc010rru.1	+	6	969	c.969C>G	c.(967-969)TTC>TTG	p.F323L	MOGAT2_uc010rrv.1_Missense_Mutation_p.F241L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	323					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)																	---	---	---	---	capture		Missense_Mutation	SNP	75442295	75442295	10086	11	C	G	G	29	29	MOGAT2	G	3	3
GDPD4	220032	broad.mit.edu	37	11	76969502	76969502	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76969502C>A	uc001oyf.2	-	10	1044	c.793G>T	c.(793-795)GAG>TAG	p.E265*		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	265	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	76969502	76969502	6594	11	C	A	A	31	31	GDPD4	A	5	1
GDPD4	220032	broad.mit.edu	37	11	76979530	76979530	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76979530G>T	uc001oyf.2	-	9	930	c.679C>A	c.(679-681)CAT>AAT	p.H227N		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	227	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	76979530	76979530	6594	11	G	T	T	47	47	GDPD4	T	2	2
PCF11	51585	broad.mit.edu	37	11	82877253	82877253	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82877253C>A	uc001ozx.3	+	5	1659	c.1314C>A	c.(1312-1314)TCC>TCA	p.S438S	PCF11_uc010rsu.1_Silent_p.S438S	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	438					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	82877253	82877253	11993	11	C	A	A	23	23	PCF11	A	1	1
SYTL2	54843	broad.mit.edu	37	11	85445114	85445114	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85445114C>A	uc010rth.1	-	6	1531	c.1255G>T	c.(1255-1257)GGG>TGG	p.G419W	SYTL2_uc010rtg.1_Missense_Mutation_p.G420W|SYTL2_uc010rti.1_Missense_Mutation_p.G419W|SYTL2_uc010rtj.1_Missense_Mutation_p.G371W|SYTL2_uc001pbf.3_Missense_Mutation_p.G419W|SYTL2_uc010rtf.1_Missense_Mutation_p.G277W	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	419					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	85445114	85445114	16004	11	C	A	A	21	21	SYTL2	A	2	2
GRM5	2915	broad.mit.edu	37	11	88258520	88258520	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88258520G>T	uc001pcq.2	-	8	2883	c.2683C>A	c.(2683-2685)CCC>ACC	p.P895T	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	895	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---	capture		Missense_Mutation	SNP	88258520	88258520	7079	11	G	T	T	43	43	GRM5	T	2	2
TYR	7299	broad.mit.edu	37	11	88911731	88911731	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88911731G>A	uc001pcs.2	+	1	692	c.610G>A	c.(610-612)GCA>ACA	p.A204T		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	204	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									Oculocutaneous_Albinism				---	---	---	---	capture		Missense_Mutation	SNP	88911731	88911731	17370	11	G	A	A	34	34	TYR	A	2	2
PANX1	24145	broad.mit.edu	37	11	93912973	93912973	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93912973G>T	uc001per.2	+	4	1136	c.751G>T	c.(751-753)GGG>TGG	p.G251W	PANX1_uc001peq.2_Missense_Mutation_p.G251W	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	251	Extracellular (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93912973	93912973	11837	11	G	T	T	35	35	PANX1	T	2	2
ANKRD49	54851	broad.mit.edu	37	11	94230054	94230054	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94230054G>T	uc001pew.2	+	2	334	c.195G>T	c.(193-195)TTG>TTT	p.L65F	ANKRD49_uc001pex.2_Missense_Mutation_p.L65F|ANKRD49_uc001pey.2_5'Flank	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	65					positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	94230054	94230054	683	11	G	T	T	46	46	ANKRD49	T	2	2
AMOTL1	154810	broad.mit.edu	37	11	94563321	94563321	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94563321G>T	uc001pfb.2	+	5	1689	c.1519G>T	c.(1519-1521)GAG>TAG	p.E507*	AMOTL1_uc001pfc.2_Nonsense_Mutation_p.E457*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	507	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Nonsense_Mutation	SNP	94563321	94563321	586	11	G	T	T	37	37	AMOTL1	T	5	1
BIRC2	329	broad.mit.edu	37	11	102221647	102221647	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102221647G>T	uc001pgy.2	+	3	2367	c.968G>T	c.(967-969)TGG>TTG	p.W323L	BIRC2_uc010ruq.1_Missense_Mutation_p.W274L|BIRC2_uc010rur.1_Missense_Mutation_p.W323L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	323	BIR 3.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)														---	---	---	---	capture		Missense_Mutation	SNP	102221647	102221647	1460	11	G	T	T	47	47	BIRC2	T	2	2
BIRC2	329	broad.mit.edu	37	11	102221671	102221671	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102221671C>A	uc001pgy.2	+	3	2391	c.992C>A	c.(991-993)CCA>CAA	p.P331Q	BIRC2_uc010ruq.1_Missense_Mutation_p.P282Q|BIRC2_uc010rur.1_Missense_Mutation_p.P331Q	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	331	BIR 3.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)														---	---	---	---	capture		Missense_Mutation	SNP	102221671	102221671	1460	11	C	A	A	21	21	BIRC2	A	2	2
MMP8	4317	broad.mit.edu	37	11	102592222	102592222	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102592222C>A	uc001phe.2	-	4	631	c.532G>T	c.(532-534)GGA>TGA	p.G178*	MMP8_uc010rut.1_Nonsense_Mutation_p.G113*|MMP8_uc010ruu.1_Nonsense_Mutation_p.G155*	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	178					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)														---	---	---	---	capture		Nonsense_Mutation	SNP	102592222	102592222	10059	11	C	A	A	21	21	MMP8	A	5	2
MMP1	4312	broad.mit.edu	37	11	102668087	102668087	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102668087G>T	uc001phi.2	-	2	393	c.250C>A	c.(250-252)CTG>ATG	p.L84M	uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.L18M	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	84					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)														---	---	---	---	capture		Missense_Mutation	SNP	102668087	102668087	10038	11	G	T	T	35	35	MMP1	T	2	2
AASDHPPT	60496	broad.mit.edu	37	11	105961333	105961333	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105961333C>A	uc001pjc.1	+	3	605	c.459C>A	c.(457-459)ACC>ACA	p.T153T	AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Silent_p.T6T	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	153					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)														---	---	---	---	capture		Silent	SNP	105961333	105961333	24	11	C	A	A	21	21	AASDHPPT	A	2	2
CWF19L2	143884	broad.mit.edu	37	11	107288944	107288944	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107288944G>A	uc010rvp.1	-	9	1533	c.1503C>T	c.(1501-1503)ATC>ATT	p.I501I	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	501							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		Silent	SNP	107288944	107288944	4232	11	G	A	A	45	45	CWF19L2	A	2	2
NPAT	4863	broad.mit.edu	37	11	108044369	108044369	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108044369G>A	uc001pjz.3	-	13	1444	c.1342C>T	c.(1342-1344)CCT>TCT	p.P448S	NPAT_uc001pka.2_Missense_Mutation_p.P243S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	448					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)														---	---	---	---	capture		Missense_Mutation	SNP	108044369	108044369	10970	11	G	A	A	42	42	NPAT	A	2	2
DSCAML1	57453	broad.mit.edu	37	11	117647597	117647597	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117647597G>A	uc001prh.1	-	3	602	c.600C>T	c.(598-600)AAC>AAT	p.N200N	DSCAML1_uc001pri.1_Silent_p.N4N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	140	Extracellular (Potential).|Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---	capture		Silent	SNP	117647597	117647597	4953	11	G	A	A	40	40	DSCAML1	A	1	1
TRAPPC4	51399	broad.mit.edu	37	11	118889906	118889906	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118889906G>T	uc010ryo.1	+	2	494	c.229G>T	c.(229-231)GCC>TCC	p.A77S	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.A77S|TRAPPC4_uc010ryp.1_Missense_Mutation_p.A77S|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.A77S	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	77					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118889906	118889906	17005	11	G	T	T	42	42	TRAPPC4	T	2	2
THY1	7070	broad.mit.edu	37	11	119290994	119290994	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119290994G>T	uc001pwq.2	-	2	174	c.140C>A	c.(139-141)CCC>CAC	p.P47H	uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.P47H|THY1_uc001pws.2_RNA	NM_006288	NP_006279	P04216	THY1_HUMAN	Thy-1 cell surface antigen preproprotein	47	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity				0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)														---	---	---	---	capture		Missense_Mutation	SNP	119290994	119290994	16413	11	G	T	T	43	43	THY1	T	2	2
UBASH3B	84959	broad.mit.edu	37	11	122646964	122646964	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122646964C>A	uc001pyi.3	+	2	559	c.199C>A	c.(199-201)CAG>AAG	p.Q67K		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	67	UBA.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)														---	---	---	---	capture		Missense_Mutation	SNP	122646964	122646964	17397	11	C	A	A	29	29	UBASH3B	A	2	2
ZNF202	7753	broad.mit.edu	37	11	123597193	123597193	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123597193C>A	uc001pzd.1	-	9	1859	c.1459G>T	c.(1459-1461)GGA>TGA	p.G487*	ZNF202_uc001pzc.1_Nonsense_Mutation_p.G263*|ZNF202_uc001pze.1_Nonsense_Mutation_p.G487*|ZNF202_uc001pzf.1_Nonsense_Mutation_p.G487*	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	487	C2H2-type 3.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)														---	---	---	---	capture		Nonsense_Mutation	SNP	123597193	123597193	18354	11	C	A	A	23	23	ZNF202	A	5	1
OR10G4	390264	broad.mit.edu	37	11	123887073	123887073	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123887073G>T	uc010sac.1	+	1	792	c.792G>T	c.(790-792)ATG>ATT	p.M264I		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)														---	---	---	---	capture		Missense_Mutation	SNP	123887073	123887073	11307	11	G	T	T	47	47	OR10G4	T	2	2
OR10G8	219869	broad.mit.edu	37	11	123900523	123900523	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900523C>A	uc001pzp.1	+	1	194	c.194C>A	c.(193-195)TCG>TAG	p.S65*		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---	capture		Nonsense_Mutation	SNP	123900523	123900523	11309	11	C	A	A	31	31	OR10G8	A	5	1
EI24	9538	broad.mit.edu	37	11	125450000	125450000	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125450000G>T	uc001qca.2	+	8	815	c.573G>T	c.(571-573)GTG>GTT	p.V191V	EI24_uc001qcb.2_Silent_p.V191V|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Silent_p.V191V|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Silent_p.V177V|EI24_uc010sbf.1_RNA	NM_004879	NP_004870	O14681	EI24_HUMAN	etoposide induced 2.4 isoform 1	191	Helical; (Potential).				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)														---	---	---	---	capture		Silent	SNP	125450000	125450000	5174	11	G	T	T	45	45	EI24	T	2	2
OPCML	4978	broad.mit.edu	37	11	132527197	132527197	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132527197C>A	uc001qgs.2	-	2	235	c.185G>T	c.(184-186)CGG>CTG	p.R62L	OPCML_uc001qgu.2_Missense_Mutation_p.R55L|OPCML_uc010sck.1_Missense_Mutation_p.R62L|OPCML_uc001qgt.2_Missense_Mutation_p.R62L|OPCML_uc010scl.1_Missense_Mutation_p.R21L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	62	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)														---	---	---	---	capture		Missense_Mutation	SNP	132527197	132527197	11280	11	C	A	A	23	23	OPCML	A	1	1
NCAPD3	23310	broad.mit.edu	37	11	134027843	134027843	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134027843G>T	uc001qhd.1	-	31	4760	c.4154C>A	c.(4153-4155)CCA>CAA	p.P1385Q	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.P335Q	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1385					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-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;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)														---	---	---	---	capture		Missense_Mutation	SNP	134027843	134027843	10605	11	G	T	T	47	47	NCAPD3	T	2	2
KDM5A	5927	broad.mit.edu	37	12	427529	427529	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:427529C>A	uc001qif.1	-	19	3003	c.2640G>T	c.(2638-2640)ATG>ATT	p.M880I	KDM5A_uc001qie.1_Missense_Mutation_p.M880I|KDM5A_uc010sdn.1_Missense_Mutation_p.M839I	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	880					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---	capture		Missense_Mutation	SNP	427529	427529	8439	12	C	A	A	21	21	KDM5A	A	2	2
WNK1	65125	broad.mit.edu	37	12	991098	991098	+	Silent	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:991098A>C	uc001qio.3	+	14	3738	c.3231A>C	c.(3229-3231)TCA>TCC	p.S1077S	WNK1_uc001qip.3_Silent_p.S830S|WNK1_uc001qir.3_Silent_p.S250S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1077					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---	capture		Silent	SNP	991098	991098	17951	12	A	C	C	7	7	WNK1	C	4	4
WNK1	65125	broad.mit.edu	37	12	994585	994585	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:994585G>T	uc001qio.3	+	19	5122	c.4615G>T	c.(4615-4617)GGA>TGA	p.G1539*	WNK1_uc001qip.3_Nonsense_Mutation_p.G1292*|WNK1_uc001qir.3_Nonsense_Mutation_p.G712*	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1539					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---	capture		Nonsense_Mutation	SNP	994585	994585	17951	12	G	T	T	47	47	WNK1	T	5	2
WNK1	65125	broad.mit.edu	37	12	1005356	1005356	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1005356G>C	uc001qio.3	+	24	6210	c.5703G>C	c.(5701-5703)GAG>GAC	p.E1901D	WNK1_uc001qip.3_Missense_Mutation_p.E1653D|WNK1_uc001qir.3_Missense_Mutation_p.E1074D	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1901					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---	capture		Missense_Mutation	SNP	1005356	1005356	17951	12	G	C	C	33	33	WNK1	C	3	3
CD163L1	283316	broad.mit.edu	37	12	7550894	7550894	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7550894A>C	uc001qsy.2	-	7	1721	c.1695T>G	c.(1693-1695)TGT>TGG	p.C565W	CD163L1_uc010sge.1_Missense_Mutation_p.C575W	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	565	SRCR 5.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	7550894	7550894	3095	12	A	C	C	6	6	CD163L1	C	4	4
PHC1	1911	broad.mit.edu	37	12	9087073	9087073	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9087073C>A	uc001qvd.2	+	10	2408	c.2252C>A	c.(2251-2253)CCG>CAG	p.P751Q	PHC1_uc001qve.2_Missense_Mutation_p.P751Q	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	751					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	9087073	9087073	12239	12	C	A	A	23	23	PHC1	A	1	1
CLEC12B	387837	broad.mit.edu	37	12	10165458	10165458	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10165458G>T	uc001qwz.2	+	2	294	c.166G>T	c.(166-168)GGG>TGG	p.G56W	CLEC12B_uc001qww.1_Missense_Mutation_p.G56W|CLEC12B_uc001qwx.1_Missense_Mutation_p.G56W|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B isoform	56	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane|plasma membrane	receptor activity|sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	10165458	10165458	3635	12	G	T	T	47	47	CLEC12B	T	2	2
CSDA	8531	broad.mit.edu	37	12	10853928	10853928	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10853928C>A	uc001qyt.2	-	9	1321	c.1078G>T	c.(1078-1080)GAG>TAG	p.E360*	CSDA_uc001qyu.2_Nonsense_Mutation_p.E291*	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	360					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	10853928	10853928	4068	12	C	A	A	29	29	CSDA	A	5	2
TAS2R46	259292	broad.mit.edu	37	12	11214162	11214162	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11214162G>T	uc001qzp.1	-	1	732	c.732C>A	c.(730-732)TCC>TCA	p.S244S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	244	Helical; Name=6; (Potential).				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)														---	---	---	---	capture		Silent	SNP	11214162	11214162	16104	12	G	T	T	47	47	TAS2R46	T	2	2
TAS2R42	353164	broad.mit.edu	37	12	11338923	11338923	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11338923C>A	uc001qzr.1	-	1	621	c.621G>T	c.(619-621)TTG>TTT	p.L207F	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	207	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)															---	---	---	---	capture		Missense_Mutation	SNP	11338923	11338923	16102	12	C	A	A	21	21	TAS2R42	A	2	2
DUSP16	80824	broad.mit.edu	37	12	12630001	12630001	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12630001G>T	uc001rao.1	-	7	2396	c.1764C>A	c.(1762-1764)CCC>CCA	p.P588P	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.P440P	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	588					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)														---	---	---	---	capture		Silent	SNP	12630001	12630001	5001	12	G	T	T	47	47	DUSP16	T	2	2
PIK3C2G	5288	broad.mit.edu	37	12	18656284	18656284	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:18656284C>A	uc001rdt.2	+	22	3079	c.2963C>A	c.(2962-2964)CCA>CAA	p.P988Q	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.P1029Q|PIK3C2G_uc010sic.1_Missense_Mutation_p.P807Q	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	988	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)																---	---	---	---	capture		Missense_Mutation	SNP	18656284	18656284	12335	12	C	A	A	21	21	PIK3C2G	A	2	2
GYS2	2998	broad.mit.edu	37	12	21693481	21693481	+	Missense_Mutation	SNP	G	A	A	rs148617918		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21693481G>A	uc001rfb.2	-	14	1927	c.1672C>T	c.(1672-1674)CGT>TGT	p.R558C		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	558					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21693481	21693481	7193	12	G	A	A	39	39	GYS2	A	1	1
LDHB	3945	broad.mit.edu	37	12	21788614	21788614	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21788614G>A	uc001rfc.2	-	7	885	c.867C>T	c.(865-867)TTC>TTT	p.F289F	LDHB_uc001rfd.2_Silent_p.F289F|LDHB_uc001rfe.2_Silent_p.F289F	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	289					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)													---	---	---	---	capture		Silent	SNP	21788614	21788614	9025	12	G	A	A	41	41	LDHB	A	2	2
ABCC9	10060	broad.mit.edu	37	12	22070035	22070035	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22070035G>T	uc001rfi.1	-	4	429	c.409C>A	c.(409-411)CTG>ATG	p.L137M	ABCC9_uc001rfh.2_Missense_Mutation_p.L137M|ABCC9_uc001rfj.1_Missense_Mutation_p.L137M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	137	Helical; Name=4; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture		Missense_Mutation	SNP	22070035	22070035	60	12	G	T	T	35	35	ABCC9	T	2	2
KIF21A	55605	broad.mit.edu	37	12	39716583	39716583	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39716583G>T	uc001rly.2	-	27	3704	c.3558C>A	c.(3556-3558)CTC>CTA	p.L1186L	KIF21A_uc001rlv.2_Silent_p.L191L|KIF21A_uc001rlw.2_Silent_p.L503L|KIF21A_uc001rlx.2_Silent_p.L1173L|KIF21A_uc001rlz.2_Silent_p.L1150L|KIF21A_uc010skl.1_Silent_p.L1166L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1186					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---	capture		Silent	SNP	39716583	39716583	8599	12	G	T	T	45	45	KIF21A	T	2	2
KIF21A	55605	broad.mit.edu	37	12	39751147	39751147	+	Silent	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39751147A>T	uc001rly.2	-	9	1454	c.1308T>A	c.(1306-1308)CGT>CGA	p.R436R	KIF21A_uc001rlx.2_Silent_p.R436R|KIF21A_uc001rlz.2_Silent_p.R436R|KIF21A_uc010skl.1_Silent_p.R436R|KIF21A_uc001rma.1_Silent_p.R444R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	436	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---	capture		Silent	SNP	39751147	39751147	8599	12	A	T	T	6	6	KIF21A	T	4	4
CNTN1	1272	broad.mit.edu	37	12	41323798	41323798	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41323798C>A	uc001rmm.1	+	7	810	c.697C>A	c.(697-699)CCT>ACT	p.P233T	CNTN1_uc009zjy.1_Missense_Mutation_p.P233T|CNTN1_uc001rmn.1_Missense_Mutation_p.P222T|CNTN1_uc001rmo.2_Missense_Mutation_p.P233T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	233					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---	capture		Missense_Mutation	SNP	41323798	41323798	3778	12	C	A	A	18	18	CNTN1	A	2	2
SFRS2IP	9169	broad.mit.edu	37	12	46316732	46316732	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46316732G>T	uc001rox.2	-	13	4399	c.4112C>A	c.(4111-4113)TCG>TAG	p.S1371*	SFRS2IP_uc001row.2_Nonsense_Mutation_p.S1056*	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1371					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---	capture		Nonsense_Mutation	SNP	46316732	46316732	14667	12	G	T	T	37	37	SFRS2IP	T	5	1
SLC38A1	81539	broad.mit.edu	37	12	46601397	46601397	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46601397C>A	uc001rpa.2	-	7	654	c.396G>T	c.(394-396)ATG>ATT	p.M132I	SLC38A1_uc001rpb.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpc.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpd.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpe.2_Missense_Mutation_p.M132I|SLC38A1_uc010slh.1_Missense_Mutation_p.M105I|SLC38A1_uc009zkj.1_Missense_Mutation_p.M132I	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	132	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)															---	---	---	---	capture		Missense_Mutation	SNP	46601397	46601397	15098	12	C	A	A	21	21	SLC38A1	A	2	2
PFKM	5213	broad.mit.edu	37	12	48538878	48538878	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48538878G>T	uc001rrc.2	+	21	2227	c.2057G>T	c.(2056-2058)TGG>TTG	p.W686L	PFKM_uc001rra.1_Missense_Mutation_p.W371L|PFKM_uc001rrb.1_Missense_Mutation_p.W757L|PFKM_uc001rrd.2_Missense_Mutation_p.W371L|PFKM_uc001rre.1_Missense_Mutation_p.W686L|PFKM_uc001rrg.1_Missense_Mutation_p.W655L	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	686			W -> C (in GSD7; Japanese).		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	48538878	48538878	12187	12	G	T	T	47	47	PFKM	T	2	2
KRT6B	3854	broad.mit.edu	37	12	52843396	52843396	+	Missense_Mutation	SNP	G	T	T	rs142625176	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52843396G>T	uc001sak.2	-	5	982	c.934C>A	c.(934-936)CAC>AAC	p.H312N		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	312	Rod.|Linker 12.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)														---	---	---	---	capture		Missense_Mutation	SNP	52843396	52843396	8796	12	G	T	T	47	47	KRT6B	T	2	2
KRT73	319101	broad.mit.edu	37	12	53009982	53009982	+	Missense_Mutation	SNP	G	T	T	rs116369374	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53009982G>T	uc001sas.2	-	2	665	c.630C>A	c.(628-630)AGC>AGA	p.S210R		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	210	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	53009982	53009982	8801	12	G	T	T	38	38	KRT73	T	1	1
KRT76	51350	broad.mit.edu	37	12	53169238	53169238	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53169238C>A	uc001sax.2	-	2	803	c.749G>T	c.(748-750)GGG>GTG	p.G250V		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	250	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	53169238	53169238	8804	12	C	A	A	22	22	KRT76	A	2	2
OR6C75	390323	broad.mit.edu	37	12	55759010	55759010	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55759010G>T	uc010spk.1	+	1	116	c.116G>T	c.(115-117)GGG>GTG	p.G39V		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	55759010	55759010	11609	12	G	T	T	43	43	OR6C75	T	2	2
MYO1A	4640	broad.mit.edu	37	12	57430609	57430609	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57430609C>A	uc001smw.3	-	21	2464	c.2221G>T	c.(2221-2223)GGG>TGG	p.G741W	MYO1A_uc010sqz.1_Missense_Mutation_p.G579W|MYO1A_uc009zpd.2_Missense_Mutation_p.G741W	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	741	IQ 2.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	57430609	57430609	10463	12	C	A	A	21	21	MYO1A	A	2	2
GNS	2799	broad.mit.edu	37	12	65113900	65113900	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65113900G>T	uc001ssg.3	-	13	1652	c.1482C>A	c.(1480-1482)ACC>ACA	p.T494T	GNS_uc001ssf.2_Silent_p.T438T|GNS_uc010ssq.1_Silent_p.T526T|GNS_uc010ssr.1_Silent_p.T474T	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	494						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)														---	---	---	---	capture		Silent	SNP	65113900	65113900	6819	12	G	T	T	47	47	GNS	T	2	2
MDM1	56890	broad.mit.edu	37	12	68715188	68715188	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:68715188G>T	uc001stz.2	-	7	1080	c.944C>A	c.(943-945)CCA>CAA	p.P315Q	MDM1_uc010stc.1_Missense_Mutation_p.P270Q|MDM1_uc009zqv.1_Missense_Mutation_p.P35Q	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	315						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)														---	---	---	---	capture		Missense_Mutation	SNP	68715188	68715188	9801	12	G	T	T	47	47	MDM1	T	2	2
RAP1B	5908	broad.mit.edu	37	12	69050930	69050930	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69050930G>T	uc001sub.2	+	7	681	c.518G>T	c.(517-519)GGG>GTG	p.G173V	RAP1B_uc010ste.1_Missense_Mutation_p.G107V|RAP1B_uc001suc.2_Missense_Mutation_p.G173V|RAP1B_uc010stf.1_Missense_Mutation_p.G154V|RAP1B_uc010stg.1_Missense_Mutation_p.G131V|RAP1B_uc010sth.1_Missense_Mutation_p.G131V|RAP1B_uc010sti.1_Missense_Mutation_p.G126V	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	173					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)														---	---	---	---	capture		Missense_Mutation	SNP	69050930	69050930	13496	12	G	T	T	43	43	RAP1B	T	2	2
PTPRR	5801	broad.mit.edu	37	12	71286515	71286515	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71286515C>A	uc001swi.1	-	2	717	c.301G>T	c.(301-303)GGT>TGT	p.G101C		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	101	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)														---	---	---	---	capture		Missense_Mutation	SNP	71286515	71286515	13268	12	C	A	A	21	21	PTPRR	A	2	2
LGR5	8549	broad.mit.edu	37	12	71978100	71978100	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71978100G>T	uc001swl.2	+	18	2358	c.2310G>T	c.(2308-2310)CTG>CTT	p.L770L	LGR5_uc001swm.2_Silent_p.L746L|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	770	Helical; Name=6; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9																		---	---	---	---	capture		Silent	SNP	71978100	71978100	9083	12	G	T	T	48	48	LGR5	T	2	2
NAV3	89795	broad.mit.edu	37	12	78513071	78513071	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78513071C>T	uc001syp.2	+	15	3268	c.3095C>T	c.(3094-3096)TCA>TTA	p.S1032L	NAV3_uc001syo.2_Missense_Mutation_p.S1032L|NAV3_uc010sub.1_Missense_Mutation_p.S532L|NAV3_uc009zsf.2_Missense_Mutation_p.S40L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1032	Ser-rich.					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		Missense_Mutation	SNP	78513071	78513071	10581	12	C	T	T	29	29	NAV3	T	2	2
NAV3	89795	broad.mit.edu	37	12	78562613	78562613	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78562613G>T	uc001syp.2	+	24	5121	c.4948G>T	c.(4948-4950)GGA>TGA	p.G1650*	NAV3_uc001syo.2_Nonsense_Mutation_p.G1650*|NAV3_uc010sub.1_Nonsense_Mutation_p.G1136*|NAV3_uc009zsf.2_Nonsense_Mutation_p.G481*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1650	Potential.					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	78562613	78562613	10581	12	G	T	T	43	43	NAV3	T	5	2
MYF5	4617	broad.mit.edu	37	12	81111130	81111130	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81111130G>T	uc001szg.2	+	1	423	c.288G>T	c.(286-288)CTG>CTT	p.L96L		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	96	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	81111130	81111130	10422	12	G	T	T	45	45	MYF5	T	2	2
TMTC2	160335	broad.mit.edu	37	12	83324281	83324281	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83324281G>T	uc001szt.2	+	4	1987	c.1555G>T	c.(1555-1557)GCT>TCT	p.A519S	TMTC2_uc001szr.1_Missense_Mutation_p.A519S|TMTC2_uc001szs.1_Missense_Mutation_p.A519S|TMTC2_uc010suk.1_Missense_Mutation_p.A274S	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	519	TPR 2.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	83324281	83324281	16802	12	G	T	T	46	46	TMTC2	T	2	2
POC1B	282809	broad.mit.edu	37	12	89818973	89818973	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:89818973C>A	uc001tbc.2	-	11	1402	c.1297G>T	c.(1297-1299)GAG>TAG	p.E433*	POC1B_uc001tba.2_Nonsense_Mutation_p.E391*|POC1B_uc001tbb.2_Nonsense_Mutation_p.E303*|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_RNA	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN	WD repeat domain 51B	433	Potential.				cell projection organization	centriole|microtubule basal body				ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	89818973	89818973	12604	12	C	A	A	32	32	POC1B	A	5	2
EEA1	8411	broad.mit.edu	37	12	93251254	93251254	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93251254C>A	uc001tck.2	-	4	518	c.253G>T	c.(253-255)GTA>TTA	p.V85L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	85	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	93251254	93251254	5108	12	C	A	A	17	17	EEA1	A	2	2
APAF1	317	broad.mit.edu	37	12	99076989	99076989	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99076989C>T	uc001tfz.2	+	15	2692	c.2115C>T	c.(2113-2115)TGC>TGT	p.C705C	APAF1_uc001tfy.2_Silent_p.C694C|APAF1_uc001tga.2_Silent_p.C694C|APAF1_uc001tgb.2_Silent_p.C705C|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.C114C	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	705	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---	capture		Silent	SNP	99076989	99076989	765	12	C	T	T	26	26	APAF1	T	2	2
ANKS1B	56899	broad.mit.edu	37	12	99640592	99640592	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99640592C>A	uc001tge.1	-	13	2224	c.1807G>T	c.(1807-1809)GGG>TGG	p.G603W	ANKS1B_uc001tgf.1_Missense_Mutation_p.G183W|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G569W	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	603						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)														---	---	---	---	capture		Missense_Mutation	SNP	99640592	99640592	697	12	C	A	A	21	21	ANKS1B	A	2	2
CHST11	50515	broad.mit.edu	37	12	104995722	104995722	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104995722C>A	uc001tkx.1	+	3	448	c.157C>A	c.(157-159)CGG>AGG	p.R53R	CHST11_uc001tky.2_Silent_p.R48R	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	53	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0																		---	---	---	---	capture		Silent	SNP	104995722	104995722	3533	12	C	A	A	23	23	CHST11	A	1	1
APPL2	55198	broad.mit.edu	37	12	105597489	105597489	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105597489C>A	uc001tlf.1	-	9	914	c.696G>T	c.(694-696)ATG>ATT	p.M232I	APPL2_uc010swt.1_Missense_Mutation_p.M189I|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M238I|APPL2_uc009zuq.2_Missense_Mutation_p.M189I	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	232	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	105597489	105597489	829	12	C	A	A	21	21	APPL2	A	2	2
RIC8B	55188	broad.mit.edu	37	12	107236523	107236523	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107236523C>A	uc001tlx.2	+	5	1118	c.993C>A	c.(991-993)ACC>ACA	p.T331T	RIC8B_uc001tlw.2_Silent_p.T331T|RIC8B_uc001tly.2_Silent_p.T291T|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	331					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	107236523	107236523	13831	12	C	A	A	21	21	RIC8B	A	2	2
ACACB	32	broad.mit.edu	37	12	109623423	109623423	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109623423C>A	uc001tob.2	+	12	1977	c.1858C>A	c.(1858-1860)CGG>AGG	p.R620R	ACACB_uc001toc.2_Silent_p.R620R	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	620	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---	capture		Silent	SNP	109623423	109623423	108	12	C	A	A	23	23	ACACB	A	1	1
ACACB	32	broad.mit.edu	37	12	109637324	109637324	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109637324C>T	uc001tob.2	+	18	2864	c.2745C>T	c.(2743-2745)CAC>CAT	p.H915H	ACACB_uc001toc.2_Silent_p.H915H	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	915	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---	capture		Silent	SNP	109637324	109637324	108	12	C	T	T	19	19	ACACB	T	1	1
ACACB	32	broad.mit.edu	37	12	109698352	109698352	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109698352C>A	uc001tob.2	+	48	6683	c.6564C>A	c.(6562-6564)CCC>CCA	p.P2188P	ACACB_uc001toc.2_Silent_p.P2188P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P854P	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2188	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---	capture		Silent	SNP	109698352	109698352	108	12	C	A	A	21	21	ACACB	A	2	2
ATP2A2	488	broad.mit.edu	37	12	110770441	110770441	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110770441C>A	uc001tqk.3	+	9	1698	c.1135C>A	c.(1135-1137)CTT>ATT	p.L379I	ATP2A2_uc001tql.3_Missense_Mutation_p.L379I|ATP2A2_uc010sxy.1_Missense_Mutation_p.L352I	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	379	Cytoplasmic (By similarity).|Interacts with phospholamban 1 (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	110770441	110770441	1156	12	C	A	A	24	24	ATP2A2	A	2	2
MAPKAPK5	8550	broad.mit.edu	37	12	112321433	112321433	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112321433G>T	uc001tta.2	+	9	968	c.709G>T	c.(709-711)GGA>TGA	p.G237*	MAPKAPK5_uc001tsz.2_Nonsense_Mutation_p.G237*|MAPKAPK5_uc001ttb.2_Nonsense_Mutation_p.G170*	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	237	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	112321433	112321433	9674	12	G	T	T	39	39	MAPKAPK5	T	5	1
SDS	10993	broad.mit.edu	37	12	113830792	113830792	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113830792C>G	uc001tvg.2	-	8	1063	c.941G>C	c.(940-942)CGG>CCG	p.R314P		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	314					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	113830792	113830792	14461	12	C	G	G	23	23	SDS	G	3	3
SIRT4	23409	broad.mit.edu	37	12	120741452	120741452	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120741452G>T	uc001tyc.2	+	2	108	c.88G>T	c.(88-90)GGG>TGG	p.G30W		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	30					chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	120741452	120741452	14835	12	G	T	T	47	47	SIRT4	T	2	2
POP5	51367	broad.mit.edu	37	12	121017127	121017127	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121017127C>A	uc001tys.2	-	5	518	c.486G>T	c.(484-486)ATG>ATT	p.M162I	POP5_uc001tyt.2_Missense_Mutation_p.M112I	NM_015918	NP_057002	Q969H6	POP5_HUMAN	processing of precursor 5 isoform a	162					tRNA processing		protein binding|ribonuclease P activity				0	all_neural(191;0.077)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	121017127	121017127	12682	12	C	A	A	21	21	POP5	A	2	2
ANAPC5	51433	broad.mit.edu	37	12	121775156	121775156	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121775156G>T	uc001uag.2	-	6	819	c.697C>A	c.(697-699)CCA>ACA	p.P233T	ANAPC5_uc001uae.2_5'Flank|ANAPC5_uc010szv.1_5'Flank|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.P134T|ANAPC5_uc001uai.1_5'UTR	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	121775156	121775156	608	12	G	T	T	41	41	ANAPC5	T	2	2
SBNO1	55206	broad.mit.edu	37	12	123780467	123780467	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123780467C>A	uc010tap.1	-	31	4170	c.4170G>T	c.(4168-4170)TTG>TTT	p.L1390F	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.L1389F|SBNO1_uc010taq.1_Missense_Mutation_p.L341F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1390							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)														---	---	---	---	capture		Missense_Mutation	SNP	123780467	123780467	14343	12	C	A	A	29	29	SBNO1	A	2	2
P2RX2	22953	broad.mit.edu	37	12	133198319	133198319	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133198319G>T	uc001ukj.1	+	11	1177	c.1177G>T	c.(1177-1179)GTG>TTG	p.V393L	P2RX2_uc001uki.1_Intron|P2RX2_uc001ukk.1_Missense_Mutation_p.V419L|P2RX2_uc001ukl.1_Missense_Mutation_p.V369L|P2RX2_uc001ukm.1_Missense_Mutation_p.V321L|P2RX2_uc001ukn.1_Missense_Mutation_p.V301L|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	393	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)														---	---	---	---	capture		Missense_Mutation	SNP	133198319	133198319	11753	12	G	T	T	48	48	P2RX2	T	2	2
SGCG	6445	broad.mit.edu	37	13	23853520	23853520	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23853520G>C	uc001uom.2	+	5	563	c.408G>C	c.(406-408)CAG>CAC	p.Q136H	SGCG_uc009zzv.2_Missense_Mutation_p.Q136H|SGCG_uc009zzw.2_Missense_Mutation_p.Q136H	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	136	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)														---	---	---	---	capture		Missense_Mutation	SNP	23853520	23853520	14694	13	G	C	C	33	33	SGCG	C	3	3
MIPEP	4285	broad.mit.edu	37	13	24443477	24443477	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24443477G>T	uc001uox.3	-	7	997	c.897C>A	c.(895-897)TCC>TCA	p.S299S		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	299					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)														---	---	---	---	capture		Silent	SNP	24443477	24443477	9982	13	G	T	T	47	47	MIPEP	T	2	2
PARP4	143	broad.mit.edu	37	13	25027743	25027743	+	Missense_Mutation	SNP	C	A	A	rs150983352		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25027743C>A	uc001upl.2	-	23	2914	c.2808G>T	c.(2806-2808)ATG>ATT	p.M936I	PARP4_uc010tdc.1_Missense_Mutation_p.M936I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	936	VWFA.			M -> A (in Ref. 2; AAC62491 and 3; BAA11494).|M -> T (in Ref. 1; AAD47250).	cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---	capture		Missense_Mutation	SNP	25027743	25027743	11880	13	C	A	A	21	21	PARP4	A	2	2
GPR12	2835	broad.mit.edu	37	13	27333755	27333755	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27333755G>A	uc010aal.2	-	2	432	c.210C>T	c.(208-210)TTC>TTT	p.F70F	GPR12_uc010tdl.1_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	70	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)														---	---	---	---	capture		Silent	SNP	27333755	27333755	6909	13	G	A	A	41	41	GPR12	A	2	2
FLT3	2322	broad.mit.edu	37	13	28599066	28599066	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28599066C>A	uc001urw.2	-	18	2304	c.2222G>T	c.(2221-2223)AGA>ATA	p.R741I	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R741I	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	741	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---	capture		Missense_Mutation	SNP	28599066	28599066	6184	13	C	A	A	32	32	FLT3	A	2	2
FLT3	2322	broad.mit.edu	37	13	28624272	28624272	+	Silent	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28624272T>C	uc001urw.2	-	6	784	c.702A>G	c.(700-702)AGA>AGG	p.R234R	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R234R	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	234	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---	capture		Silent	SNP	28624272	28624272	6184	13	T	C	C	62	62	FLT3	C	4	4
EPSTI1	94240	broad.mit.edu	37	13	43528111	43528111	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:43528111C>A	uc001uyw.1	-	6	612	c.536G>T	c.(535-537)AGA>ATA	p.R179I	EPSTI1_uc001uyx.1_Missense_Mutation_p.R179I	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	179	Potential.									ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)														---	---	---	---	capture		Missense_Mutation	SNP	43528111	43528111	5391	13	C	A	A	32	32	EPSTI1	A	2	2
KPNA3	3839	broad.mit.edu	37	13	50306786	50306786	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50306786G>T	uc001vdj.2	-	5	657	c.242C>A	c.(241-243)ACA>AAA	p.T81K		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	81	ARM 1; truncated.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)														---	---	---	---	capture		Missense_Mutation	SNP	50306786	50306786	8745	13	G	T	T	48	48	KPNA3	T	2	2
PCDH20	64881	broad.mit.edu	37	13	61986230	61986230	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61986230C>A	uc001vid.3	-	2	2366	c.2002G>T	c.(2002-2004)GCT>TCT	p.A668S	PCDH20_uc010thj.1_Missense_Mutation_p.A668S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	641	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)														---	---	---	---	capture		Missense_Mutation	SNP	61986230	61986230	11935	13	C	A	A	27	27	PCDH20	A	1	1
TBC1D4	9882	broad.mit.edu	37	13	75923357	75923357	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75923357A>T	uc001vjl.1	-	5	1704	c.1357T>A	c.(1357-1359)TGT>AGT	p.C453S	TBC1D4_uc010aer.2_Missense_Mutation_p.C453S|TBC1D4_uc010aes.2_Missense_Mutation_p.C453S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	453	PID 2.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---	capture		Missense_Mutation	SNP	75923357	75923357	16148	13	A	T	T	6	6	TBC1D4	T	4	4
MYCBP2	23077	broad.mit.edu	37	13	77724879	77724879	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77724879G>T	uc001vkf.2	-	48	7098	c.7007C>A	c.(7006-7008)ACA>AAA	p.T2336K	MYCBP2_uc010aev.2_Missense_Mutation_p.T1740K	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2336	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---	capture		Missense_Mutation	SNP	77724879	77724879	10413	13	G	T	T	48	48	MYCBP2	T	2	2
ITGBL1	9358	broad.mit.edu	37	13	102105224	102105224	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:102105224T>C	uc001vpb.2	+	1	259	c.40T>C	c.(40-42)TCC>CCC	p.S14P	ITGBL1_uc010agb.2_Missense_Mutation_p.S14P|ITGBL1_uc001vpc.3_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	14					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	102105224	102105224	8206	13	T	C	C	58	58	ITGBL1	C	4	4
EFNB2	1948	broad.mit.edu	37	13	107165088	107165088	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107165088C>A	uc001vqi.2	-	2	220	c.195G>T	c.(193-195)GTG>GTT	p.V65V		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	65	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---	capture		Silent	SNP	107165088	107165088	5144	13	C	A	A	21	21	EFNB2	A	2	2
COL4A1	1282	broad.mit.edu	37	13	110859047	110859047	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110859047C>A	uc001vqw.3	-	15	945	c.823G>T	c.(823-825)GGA>TGA	p.G275*	COL4A1_uc010agl.2_Nonsense_Mutation_p.G275*	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	275	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---	capture		Nonsense_Mutation	SNP	110859047	110859047	3827	13	C	A	A	23	23	COL4A1	A	5	1
CARS2	79587	broad.mit.edu	37	13	111340110	111340110	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111340110C>A	uc001vrd.2	-	5	569	c.529G>T	c.(529-531)GAA>TAA	p.E177*	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	177					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)													---	---	---	---	capture		Nonsense_Mutation	SNP	111340110	111340110	2777	13	C	A	A	29	29	CARS2	A	5	2
OR4K5	79317	broad.mit.edu	37	14	20389679	20389679	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389679A>C	uc010tkw.1	+	1	914	c.914A>C	c.(913-915)TAC>TCC	p.Y305S		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20389679	20389679	11483	14	A	C	C	14	14	OR4K5	C	4	4
SUPT16H	11198	broad.mit.edu	37	14	21834657	21834657	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21834657G>T	uc001wao.2	-	8	1326	c.987C>A	c.(985-987)GTC>GTA	p.V329V		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	329					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)														---	---	---	---	capture		Silent	SNP	21834657	21834657	15916	14	G	T	T	45	45	SUPT16H	T	2	2
RAB2B	84932	broad.mit.edu	37	14	21931912	21931912	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21931912C>A	uc010tlt.1	-	6	478	c.377G>T	c.(376-378)CGC>CTC	p.R126L	RAB2B_uc010tls.1_Missense_Mutation_p.R80L|RAB2B_uc001wax.2_Missense_Mutation_p.R61L|RAB2B_uc010ain.2_Missense_Mutation_p.R17L	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	126					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)														---	---	---	---	capture		Missense_Mutation	SNP	21931912	21931912	13377	14	C	A	A	27	27	RAB2B	A	1	1
FOXG1	2290	broad.mit.edu	37	14	29237481	29237481	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:29237481G>A	uc001wqe.2	+	1	1195	c.996G>A	c.(994-996)TCG>TCA	p.S332S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	332					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)														---	---	---	---	capture		Silent	SNP	29237481	29237481	6252	14	G	A	A	39	39	FOXG1	A	1	1
G2E3	55632	broad.mit.edu	37	14	31085736	31085736	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31085736A>G	uc001wqk.2	+	15	2271	c.2117A>G	c.(2116-2118)CAT>CGT	p.H706R	G2E3_uc010tpf.1_Missense_Mutation_p.H660R|G2E3_uc001wql.1_Missense_Mutation_p.H218R	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	706					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31085736	31085736	6391	14	A	G	G	8	8	G2E3	G	4	4
ARHGAP5	394	broad.mit.edu	37	14	32560744	32560744	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32560744G>T	uc001wrl.2	+	2	1108	c.869G>T	c.(868-870)TGG>TTG	p.W290L	ARHGAP5_uc001wrm.2_Missense_Mutation_p.W290L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.W290L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	290	FF 1.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)														---	---	---	---	capture		Missense_Mutation	SNP	32560744	32560744	900	14	G	T	T	47	47	ARHGAP5	T	2	2
AKAP6	9472	broad.mit.edu	37	14	33015639	33015639	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33015639C>A	uc001wrq.2	+	4	1950	c.1780C>A	c.(1780-1782)CCG>ACG	p.P594T	AKAP6_uc010aml.2_Missense_Mutation_p.P591T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	594					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---	capture		Missense_Mutation	SNP	33015639	33015639	458	14	C	A	A	30	30	AKAP6	A	2	2
PSMA6	5687	broad.mit.edu	37	14	35782161	35782161	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35782161G>T	uc001wtd.2	+	5	593	c.484G>T	c.(484-486)GGG>TGG	p.G162W	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.G83W|PSMA6_uc010tpu.1_Missense_Mutation_p.G83W	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	162					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 NF-kappaB transcription factor activity|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|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---	capture		Missense_Mutation	SNP	35782161	35782161	13124	14	G	T	T	47	47	PSMA6	T	2	2
CTAGE5	4253	broad.mit.edu	37	14	39818059	39818059	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39818059G>T	uc001wvg.3	+	23	2462	c.2126G>T	c.(2125-2127)AGA>ATA	p.R709I	CTAGE5_uc001wuz.3_Missense_Mutation_p.R697I|CTAGE5_uc001wuy.3_Missense_Mutation_p.R629I|CTAGE5_uc001wvb.3_Missense_Mutation_p.R637I|CTAGE5_uc001wvc.3_Missense_Mutation_p.R611I|CTAGE5_uc001wva.3_Missense_Mutation_p.R680I|CTAGE5_uc001wvh.3_Missense_Mutation_p.R666I|CTAGE5_uc001wvf.3_Missense_Mutation_p.R634I|CTAGE5_uc001wvi.3_Missense_Mutation_p.R714I|CTAGE5_uc010amz.2_Missense_Mutation_p.R325I|CTAGE5_uc001wvj.3_Missense_Mutation_p.R680I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	709	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)														---	---	---	---	capture		Missense_Mutation	SNP	39818059	39818059	4153	14	G	T	T	33	33	CTAGE5	T	2	2
FAM179B	23116	broad.mit.edu	37	14	45433173	45433173	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45433173C>A	uc001wvv.2	+	1	1758	c.1549C>A	c.(1549-1551)CCA>ACA	p.P517T	FAM179B_uc001wvw.2_Missense_Mutation_p.P517T|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.P517T|FAM179B_uc001wvu.2_Missense_Mutation_p.P517T	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	517	HEAT 4.						binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	45433173	45433173	5712	14	C	A	A	22	22	FAM179B	A	2	2
FAM179B	23116	broad.mit.edu	37	14	45475311	45475311	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45475311C>A	uc001wvv.2	+	5	2954	c.2745C>A	c.(2743-2745)CCC>CCA	p.P915P	FAM179B_uc001wvw.2_Silent_p.P915P|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Silent_p.P915P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	915							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Silent	SNP	45475311	45475311	5712	14	C	A	A	21	21	FAM179B	A	2	2
FANCM	57697	broad.mit.edu	37	14	45645264	45645264	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45645264C>A	uc001wwd.3	+	14	3406	c.3307C>A	c.(3307-3309)CAC>AAC	p.H1103N	FANCM_uc010anf.2_Missense_Mutation_p.H1077N|FANCM_uc001wwe.3_Missense_Mutation_p.H639N|FANCM_uc010ang.2_Missense_Mutation_p.H317N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1103					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	45645264	45645264	5907	14	C	A	A	17	17	FANCM	A	2	2
MDGA2	161357	broad.mit.edu	37	14	47566206	47566206	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47566206G>C	uc001wwj.3	-	6	1035	c.839C>G	c.(838-840)TCC>TGC	p.S280C	MDGA2_uc001wwi.3_Missense_Mutation_p.S51C|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	280	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	47566206	47566206	9796	14	G	C	C	41	41	MDGA2	C	3	3
CDKL1	8814	broad.mit.edu	37	14	50801294	50801294	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50801294C>A	uc001wxz.2	-	7	815	c.787G>T	c.(787-789)GGG>TGG	p.G263W	ATP5S_uc010ant.1_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	262	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)																	---	---	---	---	capture		Missense_Mutation	SNP	50801294	50801294	3282	14	C	A	A	22	22	CDKL1	A	2	2
NIN	51199	broad.mit.edu	37	14	51224024	51224024	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51224024G>T	uc001wym.2	-	18	3915	c.3724C>A	c.(3724-3726)CCT>ACT	p.P1242T	NIN_uc001wyi.2_Missense_Mutation_p.P1242T|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.P1248T|NIN_uc001wyo.2_Missense_Mutation_p.P1242T	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1242	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---	capture		Missense_Mutation	SNP	51224024	51224024	10818	14	G	T	T	43	43	NIN	T	2	2
TXNDC16	57544	broad.mit.edu	37	14	52936765	52936765	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52936765G>T	uc001wzs.2	-	16	2057	c.1608C>A	c.(1606-1608)ACC>ACA	p.T536T	TXNDC16_uc010tqu.1_Silent_p.T531T|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	536					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---	capture		Silent	SNP	52936765	52936765	17351	14	G	T	T	47	47	TXNDC16	T	2	2
TXNDC16	57544	broad.mit.edu	37	14	52981641	52981641	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52981641G>T	uc001wzs.2	-	8	1011	c.562C>A	c.(562-564)CAA>AAA	p.Q188K	TXNDC16_uc010tqu.1_Missense_Mutation_p.Q183K|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	188					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---	capture		Missense_Mutation	SNP	52981641	52981641	17351	14	G	T	T	47	47	TXNDC16	T	2	2
TXNDC16	57544	broad.mit.edu	37	14	52985907	52985907	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52985907C>A	uc001wzs.2	-	7	946	c.497G>T	c.(496-498)AGA>ATA	p.R166I	TXNDC16_uc010tqu.1_Missense_Mutation_p.R161I|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	166					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---	capture		Missense_Mutation	SNP	52985907	52985907	17351	14	C	A	A	32	32	TXNDC16	A	2	2
ERO1L	30001	broad.mit.edu	37	14	53120012	53120012	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53120012C>A	uc001wzv.2	-	12	1056	c.830G>T	c.(829-831)TGG>TTG	p.W277L	ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	ERO1-like precursor	277					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor				0	Breast(41;0.226)																	---	---	---	---	capture		Missense_Mutation	SNP	53120012	53120012	5432	14	C	A	A	21	21	ERO1L	A	2	2
DDHD1	80821	broad.mit.edu	37	14	53529813	53529813	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53529813C>A	uc001xai.2	-	7	1844	c.1614G>T	c.(1612-1614)TTG>TTT	p.L538F	DDHD1_uc001xaj.2_Missense_Mutation_p.L545F|DDHD1_uc001xah.2_Missense_Mutation_p.L538F|DDHD1_uc001xag.2_Missense_Mutation_p.L120F|DDHD1_uc001xak.1_5'Flank	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	538					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)																	---	---	---	---	capture		Missense_Mutation	SNP	53529813	53529813	4497	14	C	A	A	21	21	DDHD1	A	2	2
WDHD1	11169	broad.mit.edu	37	14	55458024	55458024	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55458024G>T	uc001xbm.1	-	12	1326	c.1248C>A	c.(1246-1248)TCC>TCA	p.S416S	WDHD1_uc010aom.1_5'UTR|WDHD1_uc001xbn.1_Silent_p.S293S	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	416						cytoplasm|nucleoplasm	DNA binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	55458024	55458024	17844	14	G	T	T	43	43	WDHD1	T	2	2
C14orf101	54916	broad.mit.edu	37	14	57072380	57072380	+	Silent	SNP	C	A	A	rs141465683		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57072380C>A	uc001xcm.2	+	5	737	c.615C>A	c.(613-615)CTC>CTA	p.L205L	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Silent_p.L205L|C14orf101_uc010aot.1_Silent_p.L205L|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	205	Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---	capture		Silent	SNP	57072380	57072380	1782	14	C	A	A	32	32	C14orf101	A	2	2
EXOC5	10640	broad.mit.edu	37	14	57686090	57686090	+	Silent	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57686090A>T	uc001xct.2	-	14	1727	c.1476T>A	c.(1474-1476)ATT>ATA	p.I492I	EXOC5_uc001xcs.2_Silent_p.I171I|EXOC5_uc010trg.1_Silent_p.I437I|EXOC5_uc010trh.1_Silent_p.I427I	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	492					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3																		---	---	---	---	capture		Silent	SNP	57686090	57686090	5500	14	A	T	T	1	1	EXOC5	T	4	4
EXOC5	10640	broad.mit.edu	37	14	57698409	57698409	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57698409C>A	uc001xct.2	-	11	1214	c.963G>T	c.(961-963)CTG>CTT	p.L321L	EXOC5_uc001xcs.2_5'UTR|EXOC5_uc010trg.1_Silent_p.L266L|EXOC5_uc010trh.1_Silent_p.L256L	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	321					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3																		---	---	---	---	capture		Silent	SNP	57698409	57698409	5500	14	C	A	A	29	29	EXOC5	A	2	2
KCNH5	27133	broad.mit.edu	37	14	63483580	63483580	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63483580C>A	uc001xfx.2	-	2	217	c.166G>T	c.(166-168)GCT>TCT	p.A56S	KCNH5_uc001xfy.2_Missense_Mutation_p.A56S|KCNH5_uc001xfz.1_5'UTR|KCNH5_uc001xga.2_5'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	56	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	63483580	63483580	8340	14	C	A	A	28	28	KCNH5	A	2	2
SGPP1	81537	broad.mit.edu	37	14	64165361	64165361	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64165361C>A	uc001xgj.2	-	2	794	c.700G>T	c.(700-702)GGA>TGA	p.G234*		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	234	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)														---	---	---	---	capture		Nonsense_Mutation	SNP	64165361	64165361	14710	14	C	A	A	21	21	SGPP1	A	5	2
ZBTB25	7597	broad.mit.edu	37	14	64954075	64954075	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64954075G>T	uc001xhf.2	-	3	1057	c.874C>A	c.(874-876)CTT>ATT	p.L292I	ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.L292I	NM_006977	NP_008908	P24278	ZBT25_HUMAN	zinc finger protein 46	292						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)														---	---	---	---	capture		Missense_Mutation	SNP	64954075	64954075	18118	14	G	T	T	35	35	ZBTB25	T	2	2
SPTB	6710	broad.mit.edu	37	14	65246547	65246547	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65246547C>A	uc001xht.2	-	20	4423	c.4369G>T	c.(4369-4371)GAG>TAG	p.E1457*	SPTB_uc001xhr.2_Nonsense_Mutation_p.E1457*|SPTB_uc001xhs.2_Nonsense_Mutation_p.E1457*|SPTB_uc001xhu.2_Nonsense_Mutation_p.E1457*|SPTB_uc010aqi.2_Nonsense_Mutation_p.E118*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1457	Spectrin 12.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)														---	---	---	---	capture		Nonsense_Mutation	SNP	65246547	65246547	15632	14	C	A	A	31	31	SPTB	A	5	1
ATP6V1D	51382	broad.mit.edu	37	14	67805349	67805349	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67805349G>T	uc001xjf.2	-	9	909	c.733C>A	c.(733-735)CTA>ATA	p.L245I	ATP6V1D_uc001xje.2_RNA	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	245					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)														---	---	---	---	capture		Missense_Mutation	SNP	67805349	67805349	1201	14	G	T	T	33	33	ATP6V1D	T	2	2
DCAF5	8816	broad.mit.edu	37	14	69585939	69585939	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69585939C>A	uc001xkp.2	-	3	586	c.367G>T	c.(367-369)GAG>TAG	p.E123*	DCAF5_uc001xkq.2_Nonsense_Mutation_p.E123*|DCAF5_uc001xkr.3_Nonsense_Mutation_p.E123*|DCAF5_uc001xks.2_Nonsense_Mutation_p.E123*	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	123	WD 2.					CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	69585939	69585939	4444	14	C	A	A	29	29	DCAF5	A	5	2
MED6	10001	broad.mit.edu	37	14	71063403	71063403	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71063403C>A	uc001xmf.2	-	3	229	c.199G>T	c.(199-201)GAG>TAG	p.E67*	MED6_uc010tth.1_Nonsense_Mutation_p.E67*|MED6_uc010tti.1_Nonsense_Mutation_p.E67*|MED6_uc001xmg.1_Nonsense_Mutation_p.E67*|MED6_uc010ttj.1_Nonsense_Mutation_p.E67*	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	67					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)														---	---	---	---	capture		Nonsense_Mutation	SNP	71063403	71063403	9840	14	C	A	A	31	31	MED6	A	5	1
PCNX	22990	broad.mit.edu	37	14	71522261	71522261	+	Missense_Mutation	SNP	C	A	A	rs149428100		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71522261C>A	uc001xmo.2	+	25	5064	c.4618C>A	c.(4618-4620)CAG>AAG	p.Q1540K	PCNX_uc010are.1_Missense_Mutation_p.Q1429K|PCNX_uc010arf.1_Missense_Mutation_p.Q400K	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1540						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---	capture		Missense_Mutation	SNP	71522261	71522261	12011	14	C	A	A	21	21	PCNX	A	2	2
DCAF4	26094	broad.mit.edu	37	14	73412709	73412709	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73412709G>T	uc001xng.2	+	7	872	c.652G>T	c.(652-654)GAA>TAA	p.E218*	DCAF4_uc001xnj.2_Nonsense_Mutation_p.E218*|DCAF4_uc010ttr.1_Nonsense_Mutation_p.E196*|DCAF4_uc001xnh.2_Nonsense_Mutation_p.E118*|DCAF4_uc010tts.1_Nonsense_Mutation_p.E157*|DCAF4_uc010ttt.1_Nonsense_Mutation_p.E3*|DCAF4_uc001xni.2_Nonsense_Mutation_p.E157*|DCAF4_uc001xnk.2_Nonsense_Mutation_p.E218*	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	218						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	73412709	73412709	4441	14	G	T	T	37	37	DCAF4	T	5	1
ZFYVE1	53349	broad.mit.edu	37	14	73437703	73437703	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73437703C>A	uc001xnm.2	-	12	2861	c.2221G>T	c.(2221-2223)GGA>TGA	p.G741*	ZFYVE1_uc001xnl.2_Nonsense_Mutation_p.G326*|ZFYVE1_uc010arj.2_Nonsense_Mutation_p.G727*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	741	FYVE-type 2.					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)														---	---	---	---	capture		Nonsense_Mutation	SNP	73437703	73437703	18253	14	C	A	A	23	23	ZFYVE1	A	5	1
ZFYVE1	53349	broad.mit.edu	37	14	73445601	73445601	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73445601G>T	uc001xnm.2	-	6	2027	c.1387C>A	c.(1387-1389)CAC>AAC	p.H463N	ZFYVE1_uc001xnl.2_Missense_Mutation_p.H48N|ZFYVE1_uc010arj.2_Missense_Mutation_p.H463N	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	463						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)														---	---	---	---	capture		Missense_Mutation	SNP	73445601	73445601	18253	14	G	T	T	47	47	ZFYVE1	T	2	2
ZNF410	57862	broad.mit.edu	37	14	74364926	74364926	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74364926C>A	uc001xoz.1	+	5	723	c.541C>A	c.(541-543)CGT>AGT	p.R181S	ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.R108S|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.R198S|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Missense_Mutation_p.R181S|ZNF410_uc001xpc.1_Missense_Mutation_p.R128S|ZNF410_uc010tuj.1_5'UTR	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN	zinc finger protein 410	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00369)														---	---	---	---	capture		Missense_Mutation	SNP	74364926	74364926	18483	14	C	A	A	31	31	ZNF410	A	1	1
MLH3	27030	broad.mit.edu	37	14	75500155	75500155	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75500155G>T	uc001xrd.1	-	7	3898	c.3682C>A	c.(3682-3684)CAT>AAT	p.H1228N	MLH3_uc001xre.1_Intron|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1228					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)									MMR					---	---	---	---	capture		Missense_Mutation	SNP	75500155	75500155	10008	14	G	T	T	47	47	MLH3	T	2	2
KIAA1737	85457	broad.mit.edu	37	14	77572095	77572095	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77572095C>A	uc001xtd.2	+	2	223	c.44C>A	c.(43-45)TCT>TAT	p.S15Y	KIAA1737_uc001xtc.1_Translation_Start_Site	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	15											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)														---	---	---	---	capture		Missense_Mutation	SNP	77572095	77572095	8566	14	C	A	A	32	32	KIAA1737	A	2	2
VIPAR	63894	broad.mit.edu	37	14	77909006	77909006	+	Splice_Site	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77909006C>A	uc001xtt.1	-	11	970	c.632_splice	c.e11-1	p.E211_splice	VIPAR_uc001xtu.1_Splice_Site_p.E211_splice|VIPAR_uc010tvj.1_Splice_Site_p.E162_splice|VIPAR_uc001xtv.1_Splice_Site_p.E211_splice	NM_022067	NP_071350			hypothetical protein LOC63894						endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Splice_Site	SNP	77909006	77909006	17735	14	C	A	A	32	32	VIPAR	A	5	2
TSHR	7253	broad.mit.edu	37	14	81528491	81528491	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81528491G>T	uc001xvd.1	+	2	327	c.171_splice	c.e2-1	p.L57_splice	TSHR_uc001xvb.1_Splice_Site_p.L57_splice|TSHR_uc001xvc.2_Splice_Site_p.L57_splice|TSHR_uc010tvs.1_Splice_Site_p.L57_splice	NM_000369	NP_000360			thyroid stimulating hormone receptor isoform 1						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		Splice_Site	SNP	81528491	81528491	17173	14	G	T	T	35	35	TSHR	T	5	2
ZC3H14	79882	broad.mit.edu	37	14	89037427	89037427	+	Splice_Site	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89037427G>C	uc001xww.2	+	4	420	c.195_splice	c.e4-1	p.W65_splice	ZC3H14_uc010twd.1_Splice_Site_p.W65_splice|ZC3H14_uc010twe.1_Splice_Site_p.W65_splice|ZC3H14_uc001xwx.2_Splice_Site_p.W65_splice|ZC3H14_uc010twf.1_Splice_Site|ZC3H14_uc001xwy.2_Splice_Site_p.W31_splice|ZC3H14_uc010twg.1_5'Flank	NM_024824	NP_079100			zinc finger CCCH-type containing 14 isoform 1							cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Splice_Site	SNP	89037427	89037427	18154	14	G	C	C	35	35	ZC3H14	C	5	3
ATXN3	4287	broad.mit.edu	37	14	92530748	92530748	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92530748C>A	uc001yac.3	-	11	1071	c.1002G>T	c.(1000-1002)ATG>ATT	p.M334I	ATXN3_uc010aug.2_Missense_Mutation_p.M319I|ATXN3_uc001yad.3_Missense_Mutation_p.M279I|ATXN3_uc010auh.2_Missense_Mutation_p.M268I|ATXN3_uc001yae.3_Missense_Mutation_p.M236I	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	334	UIM 3.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---	capture		Missense_Mutation	SNP	92530748	92530748	1233	14	C	A	A	29	29	ATXN3	A	2	2
ITPK1	3705	broad.mit.edu	37	14	93412760	93412760	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93412760G>T	uc001ybg.2	-	10	1106	c.817C>A	c.(817-819)CTG>ATG	p.L273M	ITPK1_uc001ybe.2_Missense_Mutation_p.L273M|ITPK1_uc001ybf.2_Missense_Mutation_p.L154M|ITPK1_uc001ybh.2_Missense_Mutation_p.L273M	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	273	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)														---	---	---	---	capture		Missense_Mutation	SNP	93412760	93412760	8220	14	G	T	T	36	36	ITPK1	T	2	2
BTBD7	55727	broad.mit.edu	37	14	93720079	93720079	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93720079C>A	uc001ybo.2	-	7	1992	c.1666G>T	c.(1666-1668)GGG>TGG	p.G556W	BTBD7_uc010aur.2_Missense_Mutation_p.G81W|BTBD7_uc010two.1_Missense_Mutation_p.G376W|BTBD7_uc001ybp.2_Missense_Mutation_p.G205W	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	556										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	93720079	93720079	1580	14	C	A	A	21	21	BTBD7	A	2	2
SERPINA4	5267	broad.mit.edu	37	14	95029960	95029960	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95029960C>A	uc001ydk.2	+	2	207	c.141C>A	c.(139-141)CCC>CCA	p.P47P	SERPINA4_uc010avd.2_Silent_p.P84P|SERPINA4_uc001ydl.2_Silent_p.P47P	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	47					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)														---	---	---	---	capture		Silent	SNP	95029960	95029960	14579	14	C	A	A	21	21	SERPINA4	A	2	2
DICER1	23405	broad.mit.edu	37	14	95570029	95570029	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95570029C>A	uc001ydw.2	-	22	3886	c.3704G>T	c.(3703-3705)TGT>TTT	p.C1235F	DICER1_uc010avh.1_Missense_Mutation_p.C133F|DICER1_uc001ydv.2_Missense_Mutation_p.C1225F|DICER1_uc001ydx.2_Missense_Mutation_p.C1235F|DICER1_uc001ydy.1_Missense_Mutation_p.C87F	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1235					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---	capture		Missense_Mutation	SNP	95570029	95570029	4700	14	C	A	A	17	17	DICER1	A	2	2
DICER1	23405	broad.mit.edu	37	14	95582907	95582907	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95582907G>T	uc001ydw.2	-	11	1817	c.1635C>A	c.(1633-1635)TCC>TCA	p.S545S	DICER1_uc001ydv.2_Silent_p.S535S|DICER1_uc001ydx.2_Silent_p.S545S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	545	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---	capture		Silent	SNP	95582907	95582907	4700	14	G	T	T	35	35	DICER1	T	2	2
BDKRB1	623	broad.mit.edu	37	14	96730991	96730991	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96730991G>T	uc001yfh.2	+	3	1180	c.972G>T	c.(970-972)TGG>TGT	p.W324C	BDKRB1_uc010avn.2_Intron	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	324	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)														---	---	---	---	capture		Missense_Mutation	SNP	96730991	96730991	1414	14	G	T	T	43	43	BDKRB1	T	2	2
EML1	2009	broad.mit.edu	37	14	100405574	100405574	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100405574C>A	uc001ygs.2	+	21	2301	c.2232C>A	c.(2230-2232)GCC>GCA	p.A744A	EML1_uc010tww.1_Silent_p.A732A|EML1_uc001ygr.2_Silent_p.A763A	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	744	WD 10.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---	capture		Silent	SNP	100405574	100405574	5288	14	C	A	A	23	23	EML1	A	1	1
DYNC1H1	1778	broad.mit.edu	37	14	102442115	102442115	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102442115A>C	uc001yks.2	+	2	487	c.323A>C	c.(322-324)CAT>CCT	p.H108P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	108	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	102442115	102442115	5027	14	A	C	C	8	8	DYNC1H1	C	4	4
RCOR1	23186	broad.mit.edu	37	14	103177273	103177273	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103177273G>T	uc001ymb.2	+	7	772	c.772G>T	c.(772-774)GAG>TAG	p.E258*		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	258	Potential.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	103177273	103177273	13651	14	G	T	T	37	37	RCOR1	T	5	1
C14orf73	91828	broad.mit.edu	37	14	103574790	103574790	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103574790G>T	uc001ymk.2	+	10	1988	c.1912G>T	c.(1912-1914)GAG>TAG	p.E638*		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	638											0		Melanoma(154;0.155)	Epithelial(46;0.221)															---	---	---	---	capture		Nonsense_Mutation	SNP	103574790	103574790	1829	14	G	T	T	37	37	C14orf73	T	5	1
AHNAK2	113146	broad.mit.edu	37	14	105418747	105418747	+	Missense_Mutation	SNP	C	A	A	rs75352715		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105418747C>A	uc010axc.1	-	7	3161	c.3041G>T	c.(3040-3042)GGG>GTG	p.G1014V	AHNAK2_uc001ypx.2_Missense_Mutation_p.G914V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1014						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105418747	105418747	418	14	C	A	A	22	22	AHNAK2	A	2	2
UBE3A	7337	broad.mit.edu	37	15	25599709	25599709	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25599709G>T	uc001zaq.2	-	8	2255	c.2255C>A	c.(2254-2256)CCA>CAA	p.P752Q	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P729Q|UBE3A_uc001zas.2_Missense_Mutation_p.P749Q|UBE3A_uc001zat.2_Missense_Mutation_p.P729Q	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	752					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---	capture		Missense_Mutation	SNP	25599709	25599709	17437	15	G	T	T	47	47	UBE3A	T	2	2
ATP10A	57194	broad.mit.edu	37	15	25925402	25925402	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25925402C>A	uc010ayu.2	-	20	3838	c.3732G>T	c.(3730-3732)GTG>GTT	p.V1244V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1244	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---	capture		Silent	SNP	25925402	25925402	1135	15	C	A	A	21	21	ATP10A	A	2	2
GABRA5	2558	broad.mit.edu	37	15	27114480	27114480	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27114480G>T	uc001zbd.1	+	4	424	c.85G>T	c.(85-87)GGC>TGC	p.G29C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	29					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			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---	capture		Missense_Mutation	SNP	27114480	27114480	6415	15	G	T	T	47	47	GABRA5	T	2	2
GABRG3	2567	broad.mit.edu	37	15	27572070	27572070	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27572070C>A	uc001zbg.1	+	4	551	c.385C>A	c.(385-387)CCA>ACA	p.P129T	GABRG3_uc001zbf.2_Missense_Mutation_p.P129T	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	129	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)														---	---	---	---	capture		Missense_Mutation	SNP	27572070	27572070	6424	15	C	A	A	22	22	GABRG3	A	2	2
HERC2	8924	broad.mit.edu	37	15	28386674	28386674	+	Silent	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28386674G>C	uc001zbj.2	-	78	12025	c.11919C>G	c.(11917-11919)GTC>GTG	p.V3973V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3973	RCC1 13.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---	capture		Silent	SNP	28386674	28386674	7341	15	G	C	C	45	45	HERC2	C	3	3
RYR3	6263	broad.mit.edu	37	15	34147053	34147053	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34147053C>T	uc001zhi.2	+	98	14017	c.13947C>T	c.(13945-13947)ATC>ATT	p.I4649I	RYR3_uc010bar.2_Silent_p.I4644I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4649					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Silent	SNP	34147053	34147053	14250	15	C	T	T	31	31	RYR3	T	1	1
MEIS2	4212	broad.mit.edu	37	15	37184642	37184642	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:37184642C>A	uc001zjr.2	-	12	2203	c.1166G>T	c.(1165-1167)GGG>GTG	p.G389V	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.G369V|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.G382V|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.G382V|MEIS2_uc001zjj.2_Missense_Mutation_p.G85V|MEIS2_uc001zjk.2_Missense_Mutation_p.G78V	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	389					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	37184642	37184642	9857	15	C	A	A	22	22	MEIS2	A	2	2
NUSAP1	51203	broad.mit.edu	37	15	41668024	41668024	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41668024A>C	uc001zns.3	+	9	1351	c.1121A>C	c.(1120-1122)AAA>ACA	p.K374T	NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Missense_Mutation_p.K373T|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Missense_Mutation_p.K359T|NUSAP1_uc001znv.3_Missense_Mutation_p.K372T|NUSAP1_uc001znu.3_Missense_Mutation_p.K373T|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Missense_Mutation_p.K178T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	374	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	41668024	41668024	11183	15	A	C	C	1	1	NUSAP1	C	4	4
RPAP1	26015	broad.mit.edu	37	15	41819710	41819710	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41819710C>T	uc001zod.2	-	12	1646	c.1522G>A	c.(1522-1524)GAA>AAA	p.E508K		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	508						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	41819710	41819710	14020	15	C	T	T	29	29	RPAP1	T	2	2
PLA2G4E	123745	broad.mit.edu	37	15	42302381	42302381	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42302381C>A	uc001zow.1	-	1	65	c.65G>T	c.(64-66)AGC>ATC	p.S22I		NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	Error:Variant_position_missing_in_Q3MJ16_after_alignment					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)														---	---	---	---	capture		Missense_Mutation	SNP	42302381	42302381	12431	15	C	A	A	28	28	PLA2G4E	A	2	2
CAPN3	825	broad.mit.edu	37	15	42702818	42702818	+	Silent	SNP	C	A	A	rs148851444	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42702818C>A	uc001zpn.1	+	21	2523	c.2217C>A	c.(2215-2217)TCC>TCA	p.S739S	CAPN3_uc001zpk.1_Silent_p.S506S|CAPN3_uc001zpl.1_Silent_p.S646S|CAPN3_uc010udf.1_Silent_p.S652S|CAPN3_uc010udg.1_Silent_p.S604S|CAPN3_uc001zpo.1_Silent_p.S733S|CAPN3_uc001zpp.1_Silent_p.S647S|CAPN3_uc001zpq.1_Silent_p.S227S|CAPN3_uc010bcv.1_Silent_p.S74S|CAPN3_uc001zpr.1_Silent_p.S74S|CAPN3_uc001zps.1_Silent_p.S74S|CAPN3_uc001zpt.1_Silent_p.S74S	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	739	EF-hand 3.|2 (Probable).|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)														---	---	---	---	capture		Silent	SNP	42702818	42702818	2746	15	C	A	A	23	23	CAPN3	A	1	1
CCNDBP1	23582	broad.mit.edu	37	15	43483668	43483668	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43483668G>T	uc001zqv.2	+	8	886	c.655G>T	c.(655-657)GAG>TAG	p.E219*	CCNDBP1_uc001zqu.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010bdc.2_Nonsense_Mutation_p.E219*|CCNDBP1_uc010bdb.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010udl.1_Nonsense_Mutation_p.E58*|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010bdd.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc001zqy.2_Nonsense_Mutation_p.E91*	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	219	Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-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;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)														---	---	---	---	capture		Nonsense_Mutation	SNP	43483668	43483668	3046	15	G	T	T	45	45	CCNDBP1	T	5	2
TP53BP1	7158	broad.mit.edu	37	15	43712600	43712600	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43712600G>T	uc001zrs.2	-	21	4717	c.4569C>A	c.(4567-4569)TAC>TAA	p.Y1523*	TP53BP1_uc010udp.1_Nonsense_Mutation_p.Y1523*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Y1528*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Y1528*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Y1528*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1523	Interaction with dimethylated histone H4.			Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.|Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.	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	43712600	43712600	16925	15	G	T	T	40	40	TP53BP1	T	5	1
SPG11	80208	broad.mit.edu	37	15	44951474	44951474	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44951474A>G	uc001ztx.2	-	3	501	c.470T>C	c.(469-471)CTG>CCG	p.L157P	SPG11_uc010ueh.1_Missense_Mutation_p.L157P|SPG11_uc010uei.1_Missense_Mutation_p.L157P|SPG11_uc001zua.1_Missense_Mutation_p.L157P	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	157	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---	capture		Missense_Mutation	SNP	44951474	44951474	15553	15	A	G	G	7	7	SPG11	G	4	4
SLC28A2	9153	broad.mit.edu	37	15	45556214	45556214	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45556214C>A	uc001zva.2	+	6	647	c.582C>A	c.(580-582)CAC>CAA	p.H194Q		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	194					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)														---	---	---	---	capture		Missense_Mutation	SNP	45556214	45556214	15029	15	C	A	A	17	17	SLC28A2	A	2	2
SEMA6D	80031	broad.mit.edu	37	15	48062783	48062783	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48062783G>T	uc010bek.2	+	19	2383	c.2023G>T	c.(2023-2025)GGG>TGG	p.G675W	SEMA6D_uc001zvw.2_Missense_Mutation_p.G613W|SEMA6D_uc001zvy.2_Missense_Mutation_p.G675W|SEMA6D_uc001zvz.2_Missense_Mutation_p.G619W|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.G613W|SEMA6D_uc001zwc.2_Missense_Mutation_p.G600W	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	675	Helical; (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---	capture		Missense_Mutation	SNP	48062783	48062783	14528	15	G	T	T	43	43	SEMA6D	T	2	2
SEMA6D	80031	broad.mit.edu	37	15	48063224	48063224	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48063224G>T	uc010bek.2	+	19	2824	c.2464G>T	c.(2464-2466)GGG>TGG	p.G822W	SEMA6D_uc001zvw.2_Missense_Mutation_p.G760W|SEMA6D_uc001zvy.2_Missense_Mutation_p.G822W|SEMA6D_uc001zvz.2_Missense_Mutation_p.G766W|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.G760W|SEMA6D_uc001zwc.2_Missense_Mutation_p.G747W	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	822	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---	capture		Missense_Mutation	SNP	48063224	48063224	14528	15	G	T	T	47	47	SEMA6D	T	2	2
USP8	9101	broad.mit.edu	37	15	50769081	50769081	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50769081G>T	uc001zym.3	+	10	1385	c.885G>T	c.(883-885)TTG>TTT	p.L295F	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.L295F|USP8_uc001zyn.3_Missense_Mutation_p.L295F|USP8_uc010ufh.1_Missense_Mutation_p.L218F|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	295	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)														---	---	---	---	capture		Missense_Mutation	SNP	50769081	50769081	17653	15	G	T	T	47	47	USP8	T	2	2
CYP19A1	1588	broad.mit.edu	37	15	51535107	51535107	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51535107C>A	uc001zyz.3	-	3	254	c.3G>T	c.(1-3)ATG>ATT	p.M1I	CYP19A1_uc001zza.3_Missense_Mutation_p.M1I|CYP19A1_uc001zzb.2_Missense_Mutation_p.M1I|CYP19A1_uc001zzd.2_Missense_Mutation_p.M1I|CYP19A1_uc010bey.1_Missense_Mutation_p.M1I|CYP19A1_uc001zze.1_RNA	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	1					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)													---	---	---	---	capture		Missense_Mutation	SNP	51535107	51535107	4313	15	C	A	A	21	21	CYP19A1	A	2	2
ZNF280D	54816	broad.mit.edu	37	15	56923748	56923748	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56923748G>T	uc002adu.2	-	22	3105	c.2888C>A	c.(2887-2889)CCT>CAT	p.P963H	uc002ads.2_5'Flank|ZNF280D_uc002adv.2_Missense_Mutation_p.P950H|ZNF280D_uc010bfq.2_Missense_Mutation_p.P963H|ZNF280D_uc002adt.2_Missense_Mutation_p.P204H|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)														---	---	---	---	capture		Missense_Mutation	SNP	56923748	56923748	18409	15	G	T	T	35	35	ZNF280D	T	2	2
TCF12	6938	broad.mit.edu	37	15	57458628	57458628	+	Silent	SNP	C	A	A	rs147522860		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57458628C>A	uc002aec.2	+	6	638	c.354C>A	c.(352-354)TCC>TCA	p.S118S	TCF12_uc010ugm.1_Silent_p.S170S|TCF12_uc010ugn.1_Silent_p.S114S|TCF12_uc002aea.2_Silent_p.S118S|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Silent_p.S118S|TCF12_uc002aed.2_Silent_p.S118S	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	118					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)				T	TEC	extraskeletal myxoid chondrosarcoma								---	---	---	---	capture		Silent	SNP	57458628	57458628	16213	15	C	A	A	22	22	TCF12	A	2	2
ALDH1A2	8854	broad.mit.edu	37	15	58247467	58247467	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58247467C>A	uc002aex.2	-	13	1543	c.1485G>T	c.(1483-1485)ATG>ATT	p.M495I	ALDH1A2_uc002aey.2_Missense_Mutation_p.M457I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.M474I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.M466I|ALDH1A2_uc002aew.2_Missense_Mutation_p.M399I	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	495					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)													---	---	---	---	capture		Missense_Mutation	SNP	58247467	58247467	494	15	C	A	A	22	22	ALDH1A2	A	2	2
VPS13C	54832	broad.mit.edu	37	15	62241690	62241690	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62241690C>A	uc002agz.2	-	42	4785	c.4711G>T	c.(4711-4713)GAG>TAG	p.E1571*	VPS13C_uc002aha.2_Nonsense_Mutation_p.E1528*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E1571*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E1528*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1571					protein localization					ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	62241690	62241690	17758	15	C	A	A	31	31	VPS13C	A	5	1
TLN2	83660	broad.mit.edu	37	15	63031711	63031711	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63031711C>T	uc002alb.3	+	28	3852	c.3852C>T	c.(3850-3852)CTC>CTT	p.L1284L	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1284					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---	capture		Silent	SNP	63031711	63031711	16478	15	C	T	T	31	31	TLN2	T	1	1
TLN2	83660	broad.mit.edu	37	15	63069108	63069108	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63069108A>T	uc002alb.3	+	40	5513	c.5513A>T	c.(5512-5514)AAG>ATG	p.K1838M	TLN2_uc002alc.3_Missense_Mutation_p.K231M|TLN2_uc002ald.2_Missense_Mutation_p.K231M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1838					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---	capture		Missense_Mutation	SNP	63069108	63069108	16478	15	A	T	T	3	3	TLN2	T	4	4
HERC1	8925	broad.mit.edu	37	15	63958160	63958160	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63958160G>T	uc002amp.2	-	42	8661	c.8513C>A	c.(8512-8514)CCA>CAA	p.P2838Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2838					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---	capture		Missense_Mutation	SNP	63958160	63958160	7340	15	G	T	T	47	47	HERC1	T	2	2
HERC1	8925	broad.mit.edu	37	15	64017710	64017710	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64017710C>A	uc002amp.2	-	18	3497	c.3349G>T	c.(3349-3351)GGG>TGG	p.G1117W	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1117					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---	capture		Missense_Mutation	SNP	64017710	64017710	7340	15	C	A	A	24	24	HERC1	A	2	2
IGDCC4	57722	broad.mit.edu	37	15	65687505	65687505	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65687505G>T	uc002aou.1	-	8	1713	c.1503C>A	c.(1501-1503)TTC>TTA	p.F501L	IGDCC4_uc002aot.1_Missense_Mutation_p.F89L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	501	Extracellular (Potential).|Fibronectin type-III 1.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	65687505	65687505	7870	15	G	T	T	33	33	IGDCC4	T	2	2
RAB11A	8766	broad.mit.edu	37	15	66172017	66172017	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66172017G>T	uc002apk.2	+	4	567	c.439G>T	c.(439-441)GGT>TGT	p.G147C	RAB11A_uc010ujk.1_Nonsense_Mutation_p.E147*	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	147					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	66172017	66172017	13350	15	G	T	T	47	47	RAB11A	T	2	2
CALML4	91860	broad.mit.edu	37	15	68489787	68489787	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68489787G>T	uc002arb.2	-	4	1218	c.484C>A	c.(484-486)CAC>AAC	p.H162N	CALML4_uc002arc.2_Missense_Mutation_p.H115N|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_RNA|CALML4_uc010bhz.2_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	calmodulin-like 4 isoform 1	162	EF-hand 4.						calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	68489787	68489787	2705	15	G	T	T	47	47	CALML4	T	2	2
SPESP1	246777	broad.mit.edu	37	15	69238055	69238055	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69238055C>A	uc002arn.1	+	2	310	c.182C>A	c.(181-183)CCA>CAA	p.P61Q	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	61					multicellular organismal development	acrosomal vesicle					0																		---	---	---	---	capture		Missense_Mutation	SNP	69238055	69238055	15552	15	C	A	A	21	21	SPESP1	A	2	2
KIF23	9493	broad.mit.edu	37	15	69737354	69737354	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69737354G>T	uc002asb.2	+	19	2722	c.2605G>T	c.(2605-2607)GGG>TGG	p.G869W	KIF23_uc002asc.2_Missense_Mutation_p.G765W|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.G582W	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	869					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69737354	69737354	8602	15	G	T	T	47	47	KIF23	T	2	2
NEO1	4756	broad.mit.edu	37	15	73562430	73562430	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73562430G>T	uc002avm.3	+	17	2716	c.2574G>T	c.(2572-2574)GTG>GTT	p.V858V	NEO1_uc010ukx.1_Silent_p.V858V|NEO1_uc010uky.1_Silent_p.V858V|NEO1_uc010ukz.1_Silent_p.V282V|NEO1_uc002avn.3_Silent_p.V507V	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	858	Extracellular (Potential).|Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---	capture		Silent	SNP	73562430	73562430	10735	15	G	T	T	47	47	NEO1	T	2	2
HCN4	10021	broad.mit.edu	37	15	73617653	73617653	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73617653C>A	uc002avp.2	-	5	2717	c.1723G>T	c.(1723-1725)GAG>TAG	p.E575*		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	575	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---	capture		Nonsense_Mutation	SNP	73617653	73617653	7281	15	C	A	A	31	31	HCN4	A	5	1
SIN3A	25942	broad.mit.edu	37	15	75676637	75676637	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75676637C>A	uc002bai.2	-	17	3422	c.3163G>T	c.(3163-3165)GAG>TAG	p.E1055*	SIN3A_uc002baj.2_Nonsense_Mutation_p.E1055*|SIN3A_uc010uml.1_Nonsense_Mutation_p.E1055*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1055					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	75676637	75676637	14820	15	C	A	A	29	29	SIN3A	A	5	2
CIB2	10518	broad.mit.edu	37	15	78403567	78403567	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78403567G>T	uc002bdb.1	-	3	459	c.138C>A	c.(136-138)TAC>TAA	p.Y46*	CIB2_uc002bdc.1_Nonsense_Mutation_p.Y3*|CIB2_uc010ums.1_Nonsense_Mutation_p.Y46*	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	46							calcium ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	78403567	78403567	3555	15	G	T	T	48	48	CIB2	T	5	2
ACSBG1	23205	broad.mit.edu	37	15	78487047	78487047	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78487047C>A	uc002bdh.2	-	3	310	c.254G>T	c.(253-255)CGG>CTG	p.R85L	ACSBG1_uc010umw.1_Missense_Mutation_p.R85L|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_5'UTR	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	85					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	78487047	78487047	174	15	C	A	A	23	23	ACSBG1	A	1	1
KIAA1024	23251	broad.mit.edu	37	15	79760690	79760690	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79760690C>A	uc002bew.1	+	4	2790	c.2715C>A	c.(2713-2715)CTC>CTA	p.L905L	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	905	Helical; (Potential).					integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Silent	SNP	79760690	79760690	8512	15	C	A	A	31	31	KIAA1024	A	1	1
HOMER2	9455	broad.mit.edu	37	15	83561445	83561445	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83561445C>A	uc002bjg.2	-	2	340	c.154G>T	c.(154-156)GGA>TGA	p.G52*	HOMER2_uc002bjh.2_Nonsense_Mutation_p.G52*|HOMER2_uc002bjj.2_Nonsense_Mutation_p.G52*|HOMER2_uc002bji.2_Nonsense_Mutation_p.G52*	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	52	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	83561445	83561445	7571	15	C	A	A	23	23	HOMER2	A	5	1
ADAMTSL3	57188	broad.mit.edu	37	15	84373180	84373180	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84373180G>T	uc002bjz.3	+	3	333	c.109G>T	c.(109-111)GAG>TAG	p.E37*	ADAMTSL3_uc002bjy.1_Nonsense_Mutation_p.E37*|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E37*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E37*	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	37						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)															---	---	---	---	capture		Nonsense_Mutation	SNP	84373180	84373180	277	15	G	T	T	37	37	ADAMTSL3	T	5	1
ZSCAN2	54993	broad.mit.edu	37	15	85163857	85163857	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85163857G>T	uc002bkr.2	+	3	657	c.431G>T	c.(430-432)GGG>GTG	p.G144V	ZSCAN2_uc010bmz.1_Missense_Mutation_p.G142V|ZSCAN2_uc010bna.2_5'UTR|ZSCAN2_uc010uox.1_Missense_Mutation_p.G143V|ZSCAN2_uc010uoy.1_Missense_Mutation_p.G143V|ZSCAN2_uc010uoz.1_Missense_Mutation_p.G143V	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	144					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G144G(1)		ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)														---	---	---	---	capture		Missense_Mutation	SNP	85163857	85163857	18835	15	G	T	T	43	43	ZSCAN2	T	2	2
SLC28A1	9154	broad.mit.edu	37	15	85461808	85461808	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85461808G>T	uc002blg.2	+	10	1051	c.849G>T	c.(847-849)GTG>GTT	p.V283V	SLC28A1_uc010upd.1_Silent_p.V205V|SLC28A1_uc010bnb.2_Silent_p.V283V|SLC28A1_uc010upe.1_Silent_p.V283V|SLC28A1_uc010upf.1_Silent_p.V283V|SLC28A1_uc010upg.1_Silent_p.V283V	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	283					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Silent	SNP	85461808	85461808	15028	15	G	T	T	47	47	SLC28A1	T	2	2
DET1	55070	broad.mit.edu	37	15	89056198	89056198	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89056198C>T	uc002bmr.2	-	5	1789	c.1637G>A	c.(1636-1638)CGA>CAA	p.R546Q	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R557Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	546						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)															---	---	---	---	capture		Missense_Mutation	SNP	89056198	89056198	4629	15	C	T	T	31	31	DET1	T	1	1
POLG	5428	broad.mit.edu	37	15	89870503	89870503	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89870503C>A	uc002bns.3	-	7	1610	c.1328G>T	c.(1327-1329)CGT>CTT	p.R443L	POLG_uc002bnr.3_Missense_Mutation_p.R443L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	443					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	89870503	89870503	12628	15	C	A	A	19	19	POLG	A	1	1
IQGAP1	8826	broad.mit.edu	37	15	90977012	90977012	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90977012G>T	uc002bpl.1	+	5	553	c.452G>T	c.(451-453)TGT>TTT	p.C151F		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	151	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	90977012	90977012	8117	15	G	T	T	48	48	IQGAP1	T	2	2
ARRDC4	91947	broad.mit.edu	37	15	98511308	98511308	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:98511308C>A	uc010bom.2	+	4	746	c.587C>A	c.(586-588)TCG>TAG	p.S196*	ARRDC4_uc002bui.3_Nonsense_Mutation_p.S109*	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	196					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)															---	---	---	---	capture		Nonsense_Mutation	SNP	98511308	98511308	1003	15	C	A	A	31	31	ARRDC4	A	5	1
SRRM2	23524	broad.mit.edu	37	16	2817786	2817786	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2817786G>T	uc002crk.2	+	11	7806	c.7257G>T	c.(7255-7257)ATG>ATT	p.M2419I	SRRM2_uc002crj.1_Missense_Mutation_p.M2323I|SRRM2_uc002crl.1_Missense_Mutation_p.M2419I|SRRM2_uc010bsu.1_Missense_Mutation_p.M2323I	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2419	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2817786	2817786	15683	16	G	T	T	45	45	SRRM2	T	2	2
IL32	9235	broad.mit.edu	37	16	3119324	3119324	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3119324C>A	uc002cto.2	+	6	884	c.673C>A	c.(673-675)CAG>AAG	p.Q225K	IL32_uc002ctk.2_Missense_Mutation_p.Q122K|IL32_uc010uwp.1_Missense_Mutation_p.Q159K|IL32_uc010btb.2_Missense_Mutation_p.Q169K|IL32_uc002ctl.2_Missense_Mutation_p.Q179K|IL32_uc002ctm.2_Missense_Mutation_p.Q179K|IL32_uc002ctn.2_Missense_Mutation_p.Q179K|IL32_uc002cts.3_Missense_Mutation_p.Q179K|IL32_uc002ctp.2_Missense_Mutation_p.Q159K|IL32_uc002ctq.2_Missense_Mutation_p.Q225K|IL32_uc002ctr.2_Missense_Mutation_p.Q159K|IL32_uc002ctt.2_Missense_Mutation_p.Q179K|IL32_uc010uwr.1_Missense_Mutation_p.Q139K|IL32_uc002ctu.2_Missense_Mutation_p.Q170K	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	225					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	3119324	3119324	7993	16	C	A	A	21	21	IL32	A	2	2
ZNF174	7727	broad.mit.edu	37	16	3452089	3452089	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3452089G>T	uc002cvc.2	+	1	900	c.85G>T	c.(85-87)GAG>TAG	p.E29*	ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Nonsense_Mutation_p.E29*|ZNF174_uc002cvb.2_Nonsense_Mutation_p.E29*	NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	29					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	3452089	3452089	18335	16	G	T	T	33	33	ZNF174	T	5	2
CREBBP	1387	broad.mit.edu	37	16	3786127	3786127	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3786127G>T	uc002cvv.2	-	28	4842	c.4638C>A	c.(4636-4638)CCC>CCA	p.P1546P	CREBBP_uc002cvw.2_Silent_p.P1508P	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1546	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---	capture		Silent	SNP	3786127	3786127	4000	16	G	T	T	47	47	CREBBP	T	2	2
CREBBP	1387	broad.mit.edu	37	16	3843455	3843455	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3843455G>C	uc002cvv.2	-	4	1352	c.1148C>G	c.(1147-1149)CCG>CGG	p.P383R	CREBBP_uc002cvw.2_Missense_Mutation_p.P383R	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	383	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	3843455	3843455	4000	16	G	C	C	39	39	CREBBP	C	3	3
GRIN2A	2903	broad.mit.edu	37	16	9857519	9857519	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:9857519G>T	uc002czo.3	-	13	4430	c.3882C>A	c.(3880-3882)AAC>AAA	p.N1294K	GRIN2A_uc010uym.1_Missense_Mutation_p.N1294K|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1294	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	9857519	9857519	7058	16	G	T	T	48	48	GRIN2A	T	2	2
EMP2	2013	broad.mit.edu	37	16	10631855	10631855	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10631855G>A	uc002czx.2	-	4	440	c.246C>T	c.(244-246)TTC>TTT	p.F82F		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	82	Helical; (Potential).				cell proliferation	integral to membrane					0																		---	---	---	---	capture		Silent	SNP	10631855	10631855	5295	16	G	A	A	37	37	EMP2	A	1	1
ZC3H7A	29066	broad.mit.edu	37	16	11859381	11859381	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11859381G>T	uc002dbk.2	-	13	1881	c.1683C>A	c.(1681-1683)CTC>CTA	p.L561L	ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.L561L|ZC3H7A_uc002dbm.1_Silent_p.L471L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	561						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	11859381	11859381	18160	16	G	T	T	41	41	ZC3H7A	T	2	2
GDE1	51573	broad.mit.edu	37	16	19522230	19522230	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19522230C>A	uc002dgh.2	-	3	638	c.474G>T	c.(472-474)AGG>AGT	p.R158S	GDE1_uc002dgi.2_Missense_Mutation_p.R48S	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	158	Lumenal (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	19522230	19522230	6577	16	C	A	A	22	22	GDE1	A	2	2
CP110	9738	broad.mit.edu	37	16	19548085	19548085	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19548085C>A	uc002dgl.3	+	4	1341	c.1094C>A	c.(1093-1095)CCT>CAT	p.P365H	CP110_uc002dgk.3_Missense_Mutation_p.P365H			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	365	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	19548085	19548085	3926	16	C	A	A	24	24	CP110	A	2	2
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20043299C>A	uc002dgu.1	-	2	982	c.820G>T	c.(820-822)GCC>TCC	p.A274S	GPR139_uc010vaw.1_Missense_Mutation_p.A181S	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274	Helical; Name=7; (Potential).					integral to membrane|plasma membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20043299	20043299	6922	16	C	A	A	28	28	GPR139	A	2	2
ACSM1	116285	broad.mit.edu	37	16	20693762	20693762	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20693762T>A	uc002dhm.1	-	3	495	c.427A>T	c.(427-429)ATC>TTC	p.I143F	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.I143F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	143					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20693762	20693762	183	16	T	A	A	51	51	ACSM1	A	4	4
ERI2	112479	broad.mit.edu	37	16	20800840	20800840	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20800840C>A	uc002dhs.2	-	10	898	c.855G>T	c.(853-855)ATG>ATT	p.M285I	ACSM3_uc002dhr.2_Intron|ACSM3_uc010vba.1_Intron	NM_080663	NP_542394	A8K979	ERI2_HUMAN	exoribonuclease 2 isoform 2	Error:Variant_position_missing_in_A8K979_after_alignment						intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20800840	20800840	5421	16	C	A	A	29	29	ERI2	A	2	2
LOC81691	81691	broad.mit.edu	37	16	20827521	20827521	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20827521C>A	uc002dhv.2	+	5	725	c.462C>A	c.(460-462)CCC>CCA	p.P154P	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Silent_p.P154P|LOC81691_uc002dhw.2_5'UTR|LOC81691_uc002dhy.3_Silent_p.P154P	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	154						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2																		---	---	---	---	capture		Silent	SNP	20827521	20827521	9262	16	C	A	A	21	21	LOC81691	A	2	2
IGSF6	10261	broad.mit.edu	37	16	21654427	21654427	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21654427G>T	uc002djg.1	-	5	687	c.634C>A	c.(634-636)CAT>AAT	p.H212N	uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	NM_005849	NP_005840	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6 precursor	212	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)														---	---	---	---	capture		Missense_Mutation	SNP	21654427	21654427	7904	16	G	T	T	47	47	IGSF6	T	2	2
PRKCB	5579	broad.mit.edu	37	16	24192229	24192229	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24192229C>A	uc002dmd.2	+	13	1710	c.1513C>A	c.(1513-1515)CCA>ACA	p.P505T	PRKCB_uc002dme.2_Missense_Mutation_p.P505T	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	505	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	24192229	24192229	12951	16	C	A	A	30	30	PRKCB	A	2	2
SLC5A11	115584	broad.mit.edu	37	16	24888648	24888648	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24888648G>T	uc002dmu.2	+	7	779	c.547G>T	c.(547-549)GGG>TGG	p.G183W	SLC5A11_uc002dms.2_Missense_Mutation_p.G119W|SLC5A11_uc010vcd.1_Missense_Mutation_p.G148W|SLC5A11_uc002dmt.2_Missense_Mutation_p.G119W|SLC5A11_uc010vce.1_Missense_Mutation_p.G113W|SLC5A11_uc010bxt.2_Missense_Mutation_p.G119W	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	183	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---	capture		Missense_Mutation	SNP	24888648	24888648	15160	16	G	T	T	47	47	SLC5A11	T	2	2
EIF3CL	728689	broad.mit.edu	37	16	28734566	28734566	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28734566C>A	uc010byj.2	+	9	947	c.858C>A	c.(856-858)TCC>TCA	p.S286S	uc010vct.1_Intron|EIF3CL_uc010byi.2_Silent_p.S286S|EIF3CL_uc002dqs.3_Silent_p.S286S|EIF3C_uc002dqt.3_Silent_p.S286S|EIF3CL_uc010vcy.1_Silent_p.S276S|EIF3C_uc002dqu.3_Silent_p.S286S|EIF3CL_uc002dqv.3_Silent_p.S32S	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN	eukaryotic translation initiation factor 3,	286						eukaryotic translation initiation factor 3 complex	translation initiation factor activity				0																		---	---	---	---	capture		Silent	SNP	28734566	28734566	5204	16	C	A	A	21	21	EIF3CL	A	2	2
SPNS1	83985	broad.mit.edu	37	16	28989292	28989292	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28989292G>T	uc010vdi.1	+	4	511	c.371G>T	c.(370-372)CGG>CTG	p.R124L	uc010vct.1_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.R124L|SPNS1_uc002drx.2_Missense_Mutation_p.R51L|SPNS1_uc002dsa.2_Missense_Mutation_p.R124L|SPNS1_uc002drz.2_Missense_Mutation_p.R124L|SPNS1_uc010byp.2_Missense_Mutation_p.R102L|SPNS1_uc010byq.1_Missense_Mutation_p.R51L	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	124					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0																OREG0023711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	28989292	28989292	15587	16	G	T	T	39	39	SPNS1	T	1	1
C16orf93	90835	broad.mit.edu	37	16	30770363	30770363	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30770363C>G	uc002dzm.2	-	8	1118	c.787G>C	c.(787-789)GAG>CAG	p.E263Q	C16orf93_uc002dzn.2_Missense_Mutation_p.E328Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E226Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	263											0																		---	---	---	---	capture		Missense_Mutation	SNP	30770363	30770363	1899	16	C	G	G	32	32	C16orf93	G	3	3
C16orf93	90835	broad.mit.edu	37	16	30771025	30771025	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30771025C>G	uc002dzm.2	-	5	821	c.490G>C	c.(490-492)GAG>CAG	p.E164Q	C16orf93_uc002dzn.2_Missense_Mutation_p.E164Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E127Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	164											0																		---	---	---	---	capture		Missense_Mutation	SNP	30771025	30771025	1899	16	C	G	G	30	30	C16orf93	G	3	3
SETD1A	9739	broad.mit.edu	37	16	30991034	30991034	+	Silent	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30991034G>C	uc002ead.1	+	14	4613	c.3927G>C	c.(3925-3927)ACG>ACC	p.T1309T		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	30991034	30991034	14618	16	G	C	C	38	38	SETD1A	C	3	3
LONP2	83752	broad.mit.edu	37	16	48290549	48290549	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48290549C>G	uc002efi.1	+	3	586	c.497C>G	c.(496-498)CCT>CGT	p.P166R	LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	166	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	48290549	48290549	9265	16	C	G	G	24	24	LONP2	G	3	3
CYLD	1540	broad.mit.edu	37	16	50810118	50810118	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50810118C>A	uc002egp.1	+	7	1366	c.951C>A	c.(949-951)CCC>CCA	p.P317P	CYLD_uc002egn.1_Silent_p.P314P|CYLD_uc002ego.2_Silent_p.P314P|CYLD_uc010cbs.1_Silent_p.P314P|CYLD_uc002egq.1_Silent_p.P314P|CYLD_uc002egr.1_Silent_p.P314P|CYLD_uc002egs.1_Silent_p.P314P	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	317	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)						Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				---	---	---	---	capture		Silent	SNP	50810118	50810118	4308	16	C	A	A	21	21	CYLD	A	2	2
CES3	23491	broad.mit.edu	37	16	67000729	67000729	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67000729G>T	uc002eqt.2	+	8	1096	c.1023G>T	c.(1021-1023)ATG>ATT	p.M341I	CES3_uc010cdz.2_Missense_Mutation_p.M341I|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	341						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)														---	---	---	---	capture		Missense_Mutation	SNP	67000729	67000729	3404	16	G	T	T	47	47	CES3	T	2	2
TMCO7	79613	broad.mit.edu	37	16	69117450	69117450	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69117450C>A	uc002ewi.3	+	18	3183	c.3171C>A	c.(3169-3171)CCC>CCA	p.P1057P		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	1057						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---	capture		Silent	SNP	69117450	69117450	16531	16	C	A	A	23	23	TMCO7	A	1	1
LDHD	197257	broad.mit.edu	37	16	75150558	75150558	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75150558G>T	uc002fdm.2	-	1	108	c.61C>A	c.(61-63)CAG>AAG	p.Q21K	LDHD_uc002fdn.2_Missense_Mutation_p.Q21K	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	21							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	75150558	75150558	9027	16	G	T	T	47	47	LDHD	T	2	2
ZFP1	162239	broad.mit.edu	37	16	75203869	75203869	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75203869G>C	uc002fdo.2	+	4	1025	c.861G>C	c.(859-861)CAG>CAC	p.Q287H	ZFP1_uc002fdp.2_Missense_Mutation_p.Q232H|ZFP1_uc010cgt.2_Missense_Mutation_p.Q254H|ZFP1_uc010cgs.2_Missense_Mutation_p.Q232H|ZFP1_uc002fdq.2_Missense_Mutation_p.Q287H	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	287	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	75203869	75203869	18224	16	G	C	C	33	33	ZFP1	C	3	3
ADAMTS18	170692	broad.mit.edu	37	16	77317891	77317891	+	Nonsense_Mutation	SNP	C	A	A	rs61749041	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77317891C>A	uc002ffc.3	-	23	4047	c.3628G>T	c.(3628-3630)GGA>TGA	p.G1210*		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1210	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---	capture		Nonsense_Mutation	SNP	77317891	77317891	264	16	C	A	A	23	23	ADAMTS18	A	5	1
PRPF8	10594	broad.mit.edu	37	17	1582704	1582704	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1582704C>G	uc002fte.2	-	10	1404	c.1290G>C	c.(1288-1290)TGG>TGC	p.W430C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	430						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---	capture		Missense_Mutation	SNP	1582704	1582704	13018	17	C	G	G	18	18	PRPF8	G	3	3
PRPF8	10594	broad.mit.edu	37	17	1584337	1584337	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1584337C>A	uc002fte.2	-	7	992	c.878G>T	c.(877-879)TGG>TTG	p.W293L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	293						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---	capture		Missense_Mutation	SNP	1584337	1584337	13018	17	C	A	A	21	21	PRPF8	A	2	2
SMG6	23293	broad.mit.edu	37	17	2203024	2203024	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2203024G>T	uc002fub.1	-	2	1078	c.1023C>A	c.(1021-1023)AAC>AAA	p.N341K	SMG6_uc002fud.1_Missense_Mutation_p.N310K	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	341	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2203024	2203024	15295	17	G	T	T	48	48	SMG6	T	2	2
SPATA22	84690	broad.mit.edu	37	17	3352120	3352120	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3352120G>A	uc002fvm.2	-	6	890	c.653C>T	c.(652-654)CCA>CTA	p.P218L	SPATA22_uc010vrg.1_Missense_Mutation_p.P202L|SPATA22_uc010vrf.1_Missense_Mutation_p.P218L|SPATA22_uc002fvn.2_Missense_Mutation_p.P218L|SPATA22_uc002fvo.2_Missense_Mutation_p.P218L|SPATA22_uc002fvp.2_Missense_Mutation_p.P218L|SPATA22_uc010ckf.2_Missense_Mutation_p.P175L	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	218											0																		---	---	---	---	capture		Missense_Mutation	SNP	3352120	3352120	15516	17	G	A	A	47	47	SPATA22	A	2	2
MYBBP1A	10514	broad.mit.edu	37	17	4453604	4453604	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4453604C>A	uc002fyb.3	-	9	1130	c.1068G>T	c.(1066-1068)GTG>GTT	p.V356V	MYBBP1A_uc002fxz.3_Silent_p.V356V	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	356	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	4453604	4453604	10403	17	C	A	A	21	21	MYBBP1A	A	2	2
MINK1	50488	broad.mit.edu	37	17	4798448	4798448	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4798448C>A	uc010vsl.1	+	25	3192	c.2996C>A	c.(2995-2997)CCC>CAC	p.P999H	MINK1_uc010vsk.1_Missense_Mutation_p.P970H|MINK1_uc010vsm.1_Missense_Mutation_p.P979H|MINK1_uc010vsn.1_Missense_Mutation_p.P962H|MINK1_uc010vso.1_Missense_Mutation_p.P907H|MINK1_uc010vsp.1_Missense_Mutation_p.P460H	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	999	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	4798448	4798448	9977	17	C	A	A	22	22	MINK1	A	2	2
ZNF594	84622	broad.mit.edu	37	17	5085768	5085768	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5085768G>T	uc010cla.1	-	2	1940	c.1784C>A	c.(1783-1785)CCA>CAA	p.P595Q		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	5085768	5085768	18619	17	G	T	T	47	47	ZNF594	T	2	2
SLC2A4	6517	broad.mit.edu	37	17	7187914	7187914	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7187914G>A	uc002gfp.2	+	7	1038	c.838G>A	c.(838-840)GGC>AGC	p.G280S	SLC2A4_uc002gfo.2_Missense_Mutation_p.G280S|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	280	Cytoplasmic (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7187914	7187914	15043	17	G	A	A	43	43	SLC2A4	A	2	2
NEURL4	84461	broad.mit.edu	37	17	7221432	7221432	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7221432C>A	uc002gga.1	-	25	4019	c.4012G>T	c.(4012-4014)GAG>TAG	p.E1338*	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Nonsense_Mutation_p.E1336*	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1338							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	7221432	7221432	10747	17	C	A	A	31	31	NEURL4	A	5	1
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577090C>G	uc002gim.2	-	8	1042	c.848G>C	c.(847-849)CGC>CCC	p.R283P	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R283P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R151P|TP53_uc010cng.1_Missense_Mutation_p.R151P|TP53_uc002gii.1_Missense_Mutation_p.R151P|TP53_uc010cnh.1_Missense_Mutation_p.R283P|TP53_uc010cni.1_Missense_Mutation_p.R283P|TP53_uc002gij.2_Missense_Mutation_p.R283P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	283	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(23)|p.R283C(18)|p.R283H(12)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R283G(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	SNP	7577090	7577090	16923	17	C	G	G	27	27	TP53	G	3	3
MYH13	8735	broad.mit.edu	37	17	10219222	10219222	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10219222G>T	uc002gmk.1	-	28	3949	c.3859C>A	c.(3859-3861)CAA>AAA	p.Q1287K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1287	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	10219222	10219222	10427	17	G	T	T	47	47	MYH13	T	2	2
MYH1	4619	broad.mit.edu	37	17	10399845	10399845	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10399845C>A	uc002gmo.2	-	34	4772	c.4678G>T	c.(4678-4680)GGA>TGA	p.G1560*	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1560	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---	capture		Nonsense_Mutation	SNP	10399845	10399845	10424	17	C	A	A	22	22	MYH1	A	5	2
MYH2	4620	broad.mit.edu	37	17	10429093	10429093	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10429093C>G	uc010coi.2	-	31	4416	c.4288G>C	c.(4288-4290)GAG>CAG	p.E1430Q	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1430Q|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1430	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	10429093	10429093	10430	17	C	G	G	29	29	MYH2	G	3	3
MYOCD	93649	broad.mit.edu	37	17	12656052	12656052	+	Missense_Mutation	SNP	G	T	T	rs28730823	byFrequency;by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12656052G>T	uc002gnn.2	+	10	1746	c.1447G>T	c.(1447-1449)GGC>TGC	p.G483C	MYOCD_uc002gno.2_Missense_Mutation_p.G483C|MYOCD_uc002gnp.1_Missense_Mutation_p.G387C|MYOCD_uc002gnq.2_Missense_Mutation_p.G202C	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	483	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)														---	---	---	---	capture		Missense_Mutation	SNP	12656052	12656052	10482	17	G	T	T	39	39	MYOCD	T	1	1
FLII	2314	broad.mit.edu	37	17	18158541	18158541	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18158541C>A	uc002gsr.1	-	4	334	c.283G>T	c.(283-285)GGA>TGA	p.G95*	FLII_uc002gsq.1_5'UTR|FLII_uc010cpy.1_Nonsense_Mutation_p.G84*|FLII_uc010vxn.1_Nonsense_Mutation_p.G64*|FLII_uc010vxo.1_Nonsense_Mutation_p.G95*|FLII_uc002gss.1_Nonsense_Mutation_p.G95*|uc010vxp.1_5'Flank	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	95	Interaction with LRRFIP1 and LRRFIP2.|LRR 4.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)																	---	---	---	---	capture		Nonsense_Mutation	SNP	18158541	18158541	6163	17	C	A	A	23	23	FLII	A	5	1
TMEM97	27346	broad.mit.edu	37	17	26652619	26652619	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26652619G>T	uc002hat.2	+	2	362	c.217G>T	c.(217-219)GAG>TAG	p.E73*		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	73	Helical; (Potential).				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding				0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)														---	---	---	---	capture		Nonsense_Mutation	SNP	26652619	26652619	16764	17	G	T	T	37	37	TMEM97	T	5	1
PHF12	57649	broad.mit.edu	37	17	27233933	27233933	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27233933G>T	uc002hdg.1	-	14	3151	c.2621C>A	c.(2620-2622)TCG>TAG	p.S874*	PHF12_uc010wbb.1_Nonsense_Mutation_p.S856*	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	874					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)															---	---	---	---	capture		Nonsense_Mutation	SNP	27233933	27233933	12246	17	G	T	T	37	37	PHF12	T	5	1
CPD	1362	broad.mit.edu	37	17	28749923	28749923	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28749923G>T	uc002hfb.1	+	5	1554	c.1539G>T	c.(1537-1539)TTG>TTT	p.L513F	CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	513	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	28749923	28749923	3936	17	G	T	T	45	45	CPD	T	2	2
PSMD11	5717	broad.mit.edu	37	17	30791091	30791091	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30791091G>T	uc010cta.1	+	4	383	c.343G>T	c.(343-345)GAA>TAA	p.E115*	PSMD11_uc010wbz.1_Nonsense_Mutation_p.E115*|PSMD11_uc002hhm.2_Nonsense_Mutation_p.E115*	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	115					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	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---	capture		Nonsense_Mutation	SNP	30791091	30791091	13147	17	G	T	T	37	37	PSMD11	T	5	1
MYO1D	4642	broad.mit.edu	37	17	31105591	31105591	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:31105591C>A	uc002hho.1	-	3	317	c.305G>T	c.(304-306)GGG>GTG	p.G102V	MYO1D_uc002hhp.1_Missense_Mutation_p.G102V|MYO1D_uc010wcb.1_Missense_Mutation_p.G102V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	102	ATP (Potential).|Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)															---	---	---	---	capture		Missense_Mutation	SNP	31105591	31105591	10466	17	C	A	A	22	22	MYO1D	A	2	2
LIG3	3980	broad.mit.edu	37	17	33319587	33319587	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33319587C>A	uc002hik.1	+	8	1439	c.1331C>A	c.(1330-1332)TCG>TAG	p.S444*	LIG3_uc002hij.2_Nonsense_Mutation_p.S444*|LIG3_uc010cth.1_Nonsense_Mutation_p.S453*	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	444					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)								Other_BER_factors					---	---	---	---	capture		Nonsense_Mutation	SNP	33319587	33319587	9108	17	C	A	A	31	31	LIG3	A	5	1
PIGW	284098	broad.mit.edu	37	17	34893028	34893028	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34893028G>T	uc002hmy.1	+	2	121	c.78G>T	c.(76-78)TTG>TTT	p.L26F	MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.L26F	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	26	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	34893028	34893028	12326	17	G	T	T	48	48	PIGW	T	2	2
MRPL45	84311	broad.mit.edu	37	17	36462506	36462506	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36462506G>A	uc002hpy.2	+	4	521	c.369G>A	c.(367-369)CGG>CGA	p.R123R		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45 precursor	123					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome				0	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)																---	---	---	---	capture		Silent	SNP	36462506	36462506	10202	17	G	A	A	41	41	MRPL45	A	2	2
GPR179	440435	broad.mit.edu	37	17	36487046	36487046	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36487046C>A	uc002hpz.2	-	11	2427	c.2406G>T	c.(2404-2406)GAG>GAT	p.E802D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	802	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)																---	---	---	---	capture		Missense_Mutation	SNP	36487046	36487046	6949	17	C	A	A	32	32	GPR179	A	2	2
MED1	5469	broad.mit.edu	37	17	37571341	37571341	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37571341G>T	uc002hrv.3	-	16	1649	c.1437C>A	c.(1435-1437)CTC>CTA	p.L479L	MED1_uc010wee.1_Silent_p.L307L|MED1_uc002hru.2_Silent_p.L479L	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	479	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---	capture		Silent	SNP	37571341	37571341	9814	17	G	T	T	33	33	MED1	T	2	2
MED24	9862	broad.mit.edu	37	17	38191412	38191412	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38191412T>C	uc002htt.2	-	6	830	c.517A>G	c.(517-519)AAG>GAG	p.K173E	MED24_uc010wes.1_Missense_Mutation_p.K14E|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.K198E|MED24_uc002htu.2_Missense_Mutation_p.K160E|MED24_uc010cwn.2_Missense_Mutation_p.K160E|MED24_uc010weu.1_Missense_Mutation_p.K83E|MED24_uc010wev.1_Missense_Mutation_p.K123E|MED24_uc010wew.1_Missense_Mutation_p.K102E|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.K123E|MED24_uc010wfb.1_Missense_Mutation_p.K185E|MED24_uc010wfc.1_Missense_Mutation_p.K110E	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	173					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)															OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	38191412	38191412	9831	17	T	C	C	63	63	MED24	C	4	4
MED24	9862	broad.mit.edu	37	17	38209742	38209742	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38209742C>A	uc002htt.2	-	2	423	c.110G>T	c.(109-111)TGG>TTG	p.W37L	MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.W62L|MED24_uc002htu.2_Missense_Mutation_p.W37L|MED24_uc010cwn.2_Missense_Mutation_p.W37L|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.W62L|MED24_uc010wfc.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	37					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)																	---	---	---	---	capture		Missense_Mutation	SNP	38209742	38209742	9831	17	C	A	A	21	21	MED24	A	2	2
CCR7	1236	broad.mit.edu	37	17	38711930	38711930	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38711930G>T	uc002huw.2	-	3	264	c.201C>A	c.(199-201)ATC>ATA	p.I67I		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	67	Helical; Name=1; (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)																---	---	---	---	capture		Silent	SNP	38711930	38711930	3073	17	G	T	T	45	45	CCR7	T	2	2
CNTNAP1	8506	broad.mit.edu	37	17	40843900	40843900	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40843900G>T	uc002iay.2	+	16	2637	c.2421G>T	c.(2419-2421)CTG>CTT	p.L807L	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	807	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---	capture		Silent	SNP	40843900	40843900	3784	17	G	T	T	47	47	CNTNAP1	T	2	2
CNTNAP1	8506	broad.mit.edu	37	17	40849754	40849754	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40849754G>T	uc002iay.2	+	22	3967	c.3751G>T	c.(3751-3753)GGA>TGA	p.G1251*	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	1251	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---	capture		Nonsense_Mutation	SNP	40849754	40849754	3784	17	G	T	T	39	39	CNTNAP1	T	5	1
CNTD1	124817	broad.mit.edu	37	17	40955684	40955684	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40955684G>T	uc002ibm.3	+	2	448	c.216G>T	c.(214-216)GTG>GTT	p.V72V	CNTD1_uc010wha.1_5'UTR	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	72	Cyclin N-terminal.									central_nervous_system(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)														---	---	---	---	capture		Silent	SNP	40955684	40955684	3773	17	G	T	T	45	45	CNTD1	T	2	2
BECN1	8678	broad.mit.edu	37	17	40963737	40963737	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40963737C>A	uc002ibo.3	-	11	1255	c.1120G>T	c.(1120-1122)GAC>TAC	p.D374Y	BECN1_uc010whb.1_Missense_Mutation_p.D287Y|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.D374Y	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	374					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)														---	---	---	---	capture		Missense_Mutation	SNP	40963737	40963737	1419	17	C	A	A	30	30	BECN1	A	2	2
AOC3	8639	broad.mit.edu	37	17	41004533	41004533	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41004533G>T	uc002ibv.2	+	1	1333	c.1173G>T	c.(1171-1173)ATG>ATT	p.M391I		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	391	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)													---	---	---	---	capture		Missense_Mutation	SNP	41004533	41004533	738	17	G	T	T	47	47	AOC3	T	2	2
SLC4A1	6521	broad.mit.edu	37	17	42330487	42330487	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42330487C>A	uc002igf.3	-	17	2459	c.2310G>T	c.(2308-2310)GTG>GTT	p.V770V		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	770	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)														---	---	---	---	capture		Silent	SNP	42330487	42330487	15147	17	C	A	A	21	21	SLC4A1	A	2	2
HEXIM1	10614	broad.mit.edu	37	17	43227223	43227223	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43227223C>A	uc002iig.2	+	1	2540	c.666C>A	c.(664-666)ACC>ACA	p.T222T		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	222	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1																OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	43227223	43227223	7359	17	C	A	A	23	23	HEXIM1	A	1	1
CA10	56934	broad.mit.edu	37	17	50008415	50008415	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50008415C>A	uc002itw.3	-	3	1200	c.214G>T	c.(214-216)GAG>TAG	p.E72*	CA10_uc002itv.3_Nonsense_Mutation_p.E78*|CA10_uc002itx.3_Nonsense_Mutation_p.E72*|CA10_uc002ity.3_Nonsense_Mutation_p.E72*|CA10_uc002itz.2_Nonsense_Mutation_p.E72*	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	72					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---	capture		Nonsense_Mutation	SNP	50008415	50008415	2627	17	C	A	A	32	32	CA10	A	5	2
DGKE	8526	broad.mit.edu	37	17	54912188	54912188	+	Nonsense_Mutation	SNP	C	A	A	rs148605410		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54912188C>A	uc002iur.2	+	2	212	c.32C>A	c.(31-33)TCG>TAG	p.S11*	DGKE_uc002ius.1_Nonsense_Mutation_p.S11*|C17orf67_uc002iuq.2_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	11					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)																	---	---	---	---	capture		Nonsense_Mutation	SNP	54912188	54912188	4647	17	C	A	A	31	31	DGKE	A	5	1
TEX14	56155	broad.mit.edu	37	17	56676262	56676262	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56676262G>T	uc010dcz.1	-	14	2580	c.2462C>A	c.(2461-2463)CCA>CAA	p.P821Q	TEX14_uc002iwr.1_Missense_Mutation_p.P815Q|TEX14_uc002iws.1_Missense_Mutation_p.P815Q|TEX14_uc010dda.1_Missense_Mutation_p.P595Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	821						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---	capture		Missense_Mutation	SNP	56676262	56676262	16305	17	G	T	T	47	47	TEX14	T	2	2
PPM1E	22843	broad.mit.edu	37	17	57050227	57050227	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57050227G>A	uc002iwx.2	+	6	1278	c.1151G>A	c.(1150-1152)TGC>TAC	p.C384Y	PPM1E_uc010ddd.2_Missense_Mutation_p.C147Y	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	393	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)															---	---	---	---	capture		Missense_Mutation	SNP	57050227	57050227	12773	17	G	A	A	46	46	PPM1E	A	2	2
CLTC	1213	broad.mit.edu	37	17	57728613	57728613	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57728613C>A	uc002ixq.1	+	5	1174	c.731C>A	c.(730-732)CCA>CAA	p.P244Q	CLTC_uc002ixp.2_Missense_Mutation_p.P244Q|CLTC_uc002ixr.1_Missense_Mutation_p.P248Q	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	244	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---	capture		Missense_Mutation	SNP	57728613	57728613	3704	17	C	A	A	21	21	CLTC	A	2	2
CLTC	1213	broad.mit.edu	37	17	57762524	57762524	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57762524C>A	uc002ixq.1	+	29	4985	c.4542C>A	c.(4540-4542)CTC>CTA	p.L1514L	CLTC_uc002ixp.2_Silent_p.L1514L|CLTC_uc002ixr.1_Silent_p.L1518L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1514	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---	capture		Silent	SNP	57762524	57762524	3704	17	C	A	A	32	32	CLTC	A	2	2
DDX42	11325	broad.mit.edu	37	17	61889361	61889361	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61889361C>G	uc002jbu.2	+	15	1725	c.1468C>G	c.(1468-1470)CGG>GGG	p.R490G	DDX42_uc002jbv.2_Missense_Mutation_p.R490G|DDX42_uc002jbw.1_Missense_Mutation_p.R226G|DDX42_uc002jbx.2_Missense_Mutation_p.R226G|DDX42_uc002jby.2_Missense_Mutation_p.R36G	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	490	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	61889361	61889361	4533	17	C	G	G	23	23	DDX42	G	3	3
RGS9	8787	broad.mit.edu	37	17	63156364	63156364	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63156364G>T	uc002jfe.2	+	4	329	c.219G>T	c.(217-219)TTG>TTT	p.L73F	RGS9_uc010dem.2_Missense_Mutation_p.L73F|RGS9_uc002jfd.2_Missense_Mutation_p.L73F|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	73	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	63156364	63156364	13787	17	G	T	T	47	47	RGS9	T	2	2
KPNA2	3838	broad.mit.edu	37	17	66040468	66040468	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66040468G>T	uc002jgk.2	+	9	1328	c.1196G>T	c.(1195-1197)TGG>TTG	p.W399L	KPNA2_uc002jgl.2_Missense_Mutation_p.W399L	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	399	NLS binding site (minor) (By similarity).|ARM 8.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	66040468	66040468	8744	17	G	T	T	47	47	KPNA2	T	2	2
ABCA10	10349	broad.mit.edu	37	17	67150376	67150376	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67150376C>A	uc010dfa.1	-	32	4665	c.3786G>T	c.(3784-3786)GTG>GTT	p.V1262V	ABCA10_uc010wqs.1_Silent_p.V254V|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1262	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)																	---	---	---	---	capture		Silent	SNP	67150376	67150376	30	17	C	A	A	21	21	ABCA10	A	2	2
TSEN54	283989	broad.mit.edu	37	17	73519762	73519762	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73519762G>T	uc002jof.1	+	10	1365	c.1332G>T	c.(1330-1332)GGG>GGT	p.G444G	LLGL2_uc002jog.1_5'Flank|LLGL2_uc010dgf.1_5'Flank|LLGL2_uc002joh.2_5'Flank|LLGL2_uc002joi.2_5'Flank	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	tRNA splicing endonuclease 54 homolog	444					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Silent	SNP	73519762	73519762	17165	17	G	T	T	43	43	TSEN54	T	2	2
ZNF750	79755	broad.mit.edu	37	17	80789373	80789373	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80789373C>A	uc002kga.2	-	2	1269	c.958G>T	c.(958-960)GGA>TGA	p.G320*	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	320						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---	capture		Nonsense_Mutation	SNP	80789373	80789373	18730	17	C	A	A	23	23	ZNF750	A	5	1
USP14	9097	broad.mit.edu	37	18	210396	210396	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:210396C>A	uc002kkf.1	+	15	1452	c.1236C>A	c.(1234-1236)TCC>TCA	p.S412S	USP14_uc002kkg.1_Silent_p.S377S|USP14_uc010wyr.1_Silent_p.S401S	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	412					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---	capture		Silent	SNP	210396	210396	17607	18	C	A	A	21	21	USP14	A	2	2
COLEC12	81035	broad.mit.edu	37	18	333036	333036	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:333036G>C	uc002kkm.2	-	7	2139	c.1924C>G	c.(1924-1926)CTT>GTT	p.L642V		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	642	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---	capture		Missense_Mutation	SNP	333036	333036	3850	18	G	C	C	33	33	COLEC12	C	3	3
CLUL1	27098	broad.mit.edu	37	18	627165	627165	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:627165C>A	uc002kkp.2	+	5	637	c.492C>A	c.(490-492)CTC>CTA	p.L164L	CLUL1_uc010wys.1_Silent_p.L216L|CLUL1_uc002kkq.2_Silent_p.L164L	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	164					cell death	extracellular region				ovary(2)	2																		---	---	---	---	capture		Silent	SNP	627165	627165	3708	18	C	A	A	30	30	CLUL1	A	2	2
MYOM1	8736	broad.mit.edu	37	18	3086126	3086126	+	Silent	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3086126A>G	uc002klp.2	-	30	4495	c.4161T>C	c.(4159-4161)ACT>ACC	p.T1387T	MYOM1_uc002klq.2_Silent_p.T1291T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1387	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Silent	SNP	3086126	3086126	10486	18	A	G	G	11	11	MYOM1	G	4	4
MYOM1	8736	broad.mit.edu	37	18	3142053	3142053	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3142053C>A	uc002klp.2	-	14	2243	c.1909G>T	c.(1909-1911)GTG>TTG	p.V637L	MYOM1_uc002klq.2_Missense_Mutation_p.V637L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	637						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	3142053	3142053	10486	18	C	A	A	17	17	MYOM1	A	2	2
L3MBTL4	91133	broad.mit.edu	37	18	6237993	6237993	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6237993C>A	uc002kmz.3	-	10	914	c.754G>T	c.(754-756)GAG>TAG	p.E252*	L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.E252*|L3MBTL4_uc002kmy.3_Nonsense_Mutation_p.E90*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	252	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---	capture		Nonsense_Mutation	SNP	6237993	6237993	8917	18	C	A	A	30	30	L3MBTL4	A	5	2
PTPRM	5797	broad.mit.edu	37	18	8370999	8370999	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8370999G>C	uc002knn.3	+	22	3630	c.3127G>C	c.(3127-3129)GAA>CAA	p.E1043Q	PTPRM_uc010dkv.2_Missense_Mutation_p.E1056Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E830Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1043	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---	capture		Missense_Mutation	SNP	8370999	8370999	13263	18	G	C	C	45	45	PTPRM	C	3	3
NDUFV2	4729	broad.mit.edu	37	18	9126889	9126889	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9126889C>A	uc002knu.2	+	7	707	c.640C>A	c.(640-642)CCA>ACA	p.P214T		NM_021074	NP_066552	P19404	NDUV2_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 2	214					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	9126889	9126889	10699	18	C	A	A	22	22	NDUFV2	A	2	2
VAPA	9218	broad.mit.edu	37	18	9954179	9954179	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9954179G>T	uc002kok.2	+	6	1020	c.721G>T	c.(721-723)GGA>TGA	p.G241*	VAPA_uc002koj.2_Nonsense_Mutation_p.G286*	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	241	Helical; Anchor for type IV membrane protein; (Potential).				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	9954179	9954179	17686	18	G	T	T	47	47	VAPA	T	5	2
RNMT	8731	broad.mit.edu	37	18	13731773	13731773	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13731773C>A	uc002ksk.1	+	2	324	c.257C>A	c.(256-258)CCT>CAT	p.P86H	RNMT_uc002ksl.1_Missense_Mutation_p.P86H|RNMT_uc002ksm.1_Missense_Mutation_p.P86H|RNMT_uc010dlk.2_Missense_Mutation_p.P86H|RNMT_uc010xae.1_Intron	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	86					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	13731773	13731773	13985	18	C	A	A	24	24	RNMT	A	2	2
IMPACT	55364	broad.mit.edu	37	18	22007948	22007948	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22007948C>A	uc002kvh.3	+	2	214	c.102C>A	c.(100-102)GCC>GCA	p.A34A	IMPACT_uc002kvg.3_Silent_p.A16A	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	34	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)																	---	---	---	---	capture		Silent	SNP	22007948	22007948	8025	18	C	A	A	21	21	IMPACT	A	2	2
SS18	6760	broad.mit.edu	37	18	23619364	23619364	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23619364C>A	uc002kvm.2	-	6	742	c.664G>T	c.(664-666)GGA>TGA	p.G222*	SS18_uc002kvn.2_Nonsense_Mutation_p.G222*|SS18_uc010xbf.1_Nonsense_Mutation_p.G140*|SS18_uc010xbg.1_Nonsense_Mutation_p.G170*|SS18_uc010xbh.1_Nonsense_Mutation_p.G170*|SS18_uc010xbi.1_Nonsense_Mutation_p.G199*|SS18_uc010dlz.1_Nonsense_Mutation_p.G170*	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	222	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---	capture		Nonsense_Mutation	SNP	23619364	23619364	15690	18	C	A	A	23	23	SS18	A	5	1
TAF4B	6875	broad.mit.edu	37	18	23873404	23873404	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23873404C>A	uc002kvu.3	+	9	2230	c.1741C>A	c.(1741-1743)CAA>AAA	p.Q581K	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.Q586K	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	581					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)															---	---	---	---	capture		Missense_Mutation	SNP	23873404	23873404	16048	18	C	A	A	25	25	TAF4B	A	2	2
DSC1	1823	broad.mit.edu	37	18	28710517	28710517	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28710517G>T	uc002kwn.2	-	16	2907	c.2645C>A	c.(2644-2646)CCC>CAC	p.P882H	DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	882	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)															---	---	---	---	capture		Missense_Mutation	SNP	28710517	28710517	4949	18	G	T	T	43	43	DSC1	T	2	2
DSG1	1828	broad.mit.edu	37	18	28934998	28934998	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28934998C>A	uc002kwp.2	+	15	3051	c.2839C>A	c.(2839-2841)CAC>AAC	p.H947N	DSG1_uc010xbp.1_Missense_Mutation_p.H306N	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	947	Desmoglein repeat 5.|Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)															---	---	---	---	capture		Missense_Mutation	SNP	28934998	28934998	4960	18	C	A	A	21	21	DSG1	A	2	2
KIAA1632	57724	broad.mit.edu	37	18	43459008	43459008	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43459008C>A	uc002lbm.2	-	33	5939	c.5839G>T	c.(5839-5841)GCC>TCC	p.A1947S	KIAA1632_uc010xcq.1_Missense_Mutation_p.A501S|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A822S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1947					autophagy						0																		---	---	---	---	capture		Missense_Mutation	SNP	43459008	43459008	8558	18	C	A	A	26	26	KIAA1632	A	2	2
DCC	1630	broad.mit.edu	37	18	50961579	50961579	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50961579G>T	uc002lfe.1	+	22	3816	c.3229G>T	c.(3229-3231)GAG>TAG	p.E1077*	DCC_uc010dpf.1_Nonsense_Mutation_p.E712*	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1077	Extracellular (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---	capture		Nonsense_Mutation	SNP	50961579	50961579	4453	18	G	T	T	47	47	DCC	T	5	2
C18orf26	284254	broad.mit.edu	37	18	52265134	52265134	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:52265134C>A	uc002lfq.1	+	3	437	c.391C>A	c.(391-393)CTT>ATT	p.L131I	C18orf26_uc002lfp.1_Missense_Mutation_p.L79I	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	hypothetical protein LOC284254	131	Helical; (Potential).					integral to membrane					0				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)														---	---	---	---	capture		Missense_Mutation	SNP	52265134	52265134	1961	18	C	A	A	20	20	C18orf26	A	2	2
ATP8B1	5205	broad.mit.edu	37	18	55362765	55362765	+	Splice_Site	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55362765C>A	uc002lgw.2	-	8	699	c.699_splice	c.e8-1	p.G233_splice	uc002lgv.1_Intron	NM_005603	NP_005594			ATPase, class I, type 8B, member 1						ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)												Byler_disease				---	---	---	---	capture		Splice_Site	SNP	55362765	55362765	1213	18	C	A	A	32	32	ATP8B1	A	5	2
MC4R	4160	broad.mit.edu	37	18	58039353	58039353	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:58039353G>T	uc002lie.1	-	1	649	c.230C>A	c.(229-231)TCA>TAA	p.S77*		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	77	Cytoplasmic (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)																---	---	---	---	capture		Nonsense_Mutation	SNP	58039353	58039353	9755	18	G	T	T	45	45	MC4R	T	5	2
CDH20	28316	broad.mit.edu	37	18	59217418	59217418	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59217418G>C	uc010dps.1	+	10	1868	c.1856G>C	c.(1855-1857)CGG>CCG	p.R619P	CDH20_uc002lif.2_Missense_Mutation_p.R613P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	619	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---	capture		Missense_Mutation	SNP	59217418	59217418	3235	18	G	C	C	39	39	CDH20	C	3	3
TNFRSF11A	8792	broad.mit.edu	37	18	60029011	60029011	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60029011G>T	uc002lin.2	+	7	753	c.715G>T	c.(715-717)GGG>TGG	p.G239W	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	239	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)												Paget_Disease_of_Bone				---	---	---	---	capture		Missense_Mutation	SNP	60029011	60029011	16825	18	G	T	T	35	35	TNFRSF11A	T	2	2
DSEL	92126	broad.mit.edu	37	18	65179108	65179108	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65179108C>A	uc002lke.1	-	2	3992	c.2768G>T	c.(2767-2769)AGT>ATT	p.S923I		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	913						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)																---	---	---	---	capture		Missense_Mutation	SNP	65179108	65179108	4959	18	C	A	A	20	20	DSEL	A	2	2
FBXO15	201456	broad.mit.edu	37	18	71740764	71740764	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71740764G>T	uc002lle.2	-	10	1573	c.1237C>A	c.(1237-1239)CTT>ATT	p.L413I	FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.L489I	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	413										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)														---	---	---	---	capture		Missense_Mutation	SNP	71740764	71740764	5965	18	G	T	T	35	35	FBXO15	T	2	2
ZNF236	7776	broad.mit.edu	37	18	74622034	74622034	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74622034G>T	uc002lmi.2	+	15	2754	c.2556G>T	c.(2554-2556)GTG>GTT	p.V852V	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	852					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---	capture		Silent	SNP	74622034	74622034	18380	18	G	T	T	47	47	ZNF236	T	2	2
PALM	5064	broad.mit.edu	37	19	734187	734187	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:734187G>A	uc002lpm.1	+	6	629	c.435G>A	c.(433-435)ACG>ACA	p.T145T	PALM_uc010xft.1_Silent_p.T145T|PALM_uc002lpn.1_Silent_p.T145T|PALM_uc010xfu.1_Silent_p.T10T	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	145					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)														---	---	---	---	capture		Silent	SNP	734187	734187	11824	19	G	A	A	38	38	PALM	A	1	1
C19orf35	374872	broad.mit.edu	37	19	2276431	2276431	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2276431G>C	uc002lvn.2	-	4	770	c.670C>G	c.(670-672)CTG>GTG	p.L224V	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	224										pancreas(1)	1				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	2276431	2276431	1983	19	G	C	C	35	35	C19orf35	C	3	3
MUC16	94025	broad.mit.edu	37	19	9067654	9067654	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9067654C>A	uc002mkp.2	-	3	19996	c.19792G>T	c.(19792-19794)GGG>TGG	p.G6598W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6600	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	SNP	9067654	9067654	10367	19	C	A	A	22	22	MUC16	A	2	2
DOCK6	57572	broad.mit.edu	37	19	11332606	11332606	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11332606C>T	uc002mqs.3	-	28	3512	c.3471G>A	c.(3469-3471)GTG>GTA	p.V1157V	DOCK6_uc010xlq.1_Silent_p.V496V	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1157					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	11332606	11332606	4875	19	C	T	T	29	29	DOCK6	T	2	2
ZNF823	55552	broad.mit.edu	37	19	11833925	11833925	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11833925C>A	uc002msm.2	-	4	550	c.424G>T	c.(424-426)GGG>TGG	p.G142W	ZNF823_uc010xmd.1_5'UTR|ZNF823_uc010dyi.1_Missense_Mutation_p.G98W	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2															HNSCC(68;0.2)			---	---	---	---	capture		Missense_Mutation	SNP	11833925	11833925	18777	19	C	A	A	21	21	ZNF823	A	2	2
ZNF136	7695	broad.mit.edu	37	19	12298702	12298702	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12298702C>A	uc002mti.2	+	4	1609	c.1509C>A	c.(1507-1509)CCC>CCA	p.P503P	ZNF136_uc010xmh.1_Silent_p.P437P	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	503					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Silent	SNP	12298702	12298702	18317	19	C	A	A	24	24	ZNF136	A	2	2
ZNF442	79973	broad.mit.edu	37	19	12461930	12461930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12461930G>A	uc002mtr.1	-	6	1080	c.469C>T	c.(469-471)CAA>TAA	p.Q157*	ZNF442_uc010xmk.1_Nonsense_Mutation_p.Q88*	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	12461930	12461930	18508	19	G	A	A	48	48	ZNF442	A	5	2
DHPS	1725	broad.mit.edu	37	19	12790661	12790661	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12790661C>A	uc002muh.1	-	3	545	c.448G>T	c.(448-450)GAG>TAG	p.E150*	DHPS_uc002muf.1_Nonsense_Mutation_p.E27*|DHPS_uc002mug.1_Nonsense_Mutation_p.E108*|DHPS_uc002mui.1_Nonsense_Mutation_p.E150*|DHPS_uc002muj.1_Nonsense_Mutation_p.E150*|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	150					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)													---	---	---	---	capture		Nonsense_Mutation	SNP	12790661	12790661	4664	19	C	A	A	31	31	DHPS	A	5	1
FBXW9	84261	broad.mit.edu	37	19	12800922	12800922	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12800922C>A	uc010dyx.2	-	6	946	c.946G>T	c.(946-948)GGC>TGC	p.G316C	FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.G296C|FBXW9_uc002mun.1_Missense_Mutation_p.G133C	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	326							protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	12800922	12800922	6008	19	C	A	A	23	23	FBXW9	A	1	1
CACNA1A	773	broad.mit.edu	37	19	13373595	13373595	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13373595G>T	uc010dze.2	-	25	4281	c.4045C>A	c.(4045-4047)CGG>AGG	p.R1349R	CACNA1A_uc010xnd.1_Silent_p.R54R|CACNA1A_uc002mwx.3_Silent_p.R54R|CACNA1A_uc010dzc.2_Silent_p.R874R|CACNA1A_uc002mwy.3_Silent_p.R1348R|CACNA1A_uc010xne.1_Silent_p.R877R	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1349	III.|Helical; Name=S4 of repeat III; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	13373595	13373595	2654	19	G	T	T	39	39	CACNA1A	T	1	1
HAUS8	93323	broad.mit.edu	37	19	17163697	17163697	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17163697C>A	uc002nfe.2	-	10	978	c.867G>T	c.(865-867)CAG>CAT	p.Q289H	HAUS8_uc002nff.2_Missense_Mutation_p.Q288H|HAUS8_uc002nfg.1_Missense_Mutation_p.Q228H|HAUS8_uc002nfh.1_Missense_Mutation_p.Q289H	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	289					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0																OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	17163697	17163697	7254	19	C	A	A	24	24	HAUS8	A	2	2
USHBP1	83878	broad.mit.edu	37	19	17373367	17373367	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17373367C>T	uc002nfs.1	-	4	749	c.636G>A	c.(634-636)CAG>CAA	p.Q212Q	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.Q148Q|USHBP1_uc010eam.1_Silent_p.Q140Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	212	Potential.						PDZ domain binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	17373367	17373367	17599	19	C	T	T	32	32	USHBP1	T	2	2
MEF2B	100271849	broad.mit.edu	37	19	19257870	19257870	+	Silent	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19257870T>A	uc002nlm.2	-	5	630	c.516A>T	c.(514-516)CCA>CCT	p.P172P	MEF2B_uc002nln.2_Silent_p.P219P|MEF2B_uc002nll.2_Silent_p.P172P|LOC729991-MEF2B_uc010xqo.1_Silent_p.P172P|LOC729991-MEF2B_uc010xqp.1_Silent_p.P172P|LOC729991-MEF2B_uc002nlo.2_Silent_p.P172P|LOC729991-MEF2B_uc002nlp.2_Silent_p.P172P|MEF2B_uc002nlk.2_Silent_p.P175P	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)															---	---	---	---	capture		Silent	SNP	19257870	19257870	9845	19	T	A	A	55	55	MEF2B	A	4	4
ZNF676	163223	broad.mit.edu	37	19	22363137	22363137	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22363137G>T	uc002nqs.1	-	3	1700	c.1382C>A	c.(1381-1383)TCC>TAC	p.S461Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	461	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)																---	---	---	---	capture		Missense_Mutation	SNP	22363137	22363137	18678	19	G	T	T	41	41	ZNF676	T	2	2
ZNF99	7652	broad.mit.edu	37	19	22940353	22940353	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22940353C>T	uc010xrh.1	-	5	2085	c.2085G>A	c.(2083-2085)AAG>AAA	p.K695K		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	22940353	22940353	18808	19	C	T	T	32	32	ZNF99	T	2	2
TSHZ3	57616	broad.mit.edu	37	19	31769067	31769067	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769067C>A	uc002nsy.3	-	2	1697	c.1632G>T	c.(1630-1632)TGG>TGT	p.W544C		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	544					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---	capture		Missense_Mutation	SNP	31769067	31769067	17176	19	C	A	A	22	22	TSHZ3	A	2	2
ANKRD27	84079	broad.mit.edu	37	19	33135333	33135333	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33135333C>A	uc002ntn.1	-	5	579	c.423G>T	c.(421-423)GTG>GTT	p.V141V	ANKRD27_uc002nto.1_Silent_p.V141V	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	141					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---	capture		Silent	SNP	33135333	33135333	660	19	C	A	A	29	29	ANKRD27	A	2	2
CCDC123	84902	broad.mit.edu	37	19	33424363	33424363	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33424363G>T	uc002nty.2	-	8	969	c.880C>A	c.(880-882)CAG>AAG	p.Q294K	CCDC123_uc002ntx.2_Missense_Mutation_p.Q47K|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.Q294K|CCDC123_uc002nua.2_Missense_Mutation_p.Q294K	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	294	Potential.					centrosome|spindle pole					0	Esophageal squamous(110;0.137)																	---	---	---	---	capture		Missense_Mutation	SNP	33424363	33424363	2879	19	G	T	T	48	48	CCDC123	T	2	2
UPK1A	11045	broad.mit.edu	37	19	36159410	36159410	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36159410C>A	uc002oaw.2	+	2	139	c.139C>A	c.(139-141)CGT>AGT	p.R47S	UPK1A_uc010eeh.2_Missense_Mutation_p.R47S|uc002oax.1_Missense_Mutation_p.R46L	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	47	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---	capture		Missense_Mutation	SNP	36159410	36159410	17567	19	C	A	A	23	23	UPK1A	A	1	1
MAP4K1	11184	broad.mit.edu	37	19	39090569	39090569	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39090569G>T	uc002oix.1	-	22	1773	c.1665C>A	c.(1663-1665)CTC>CTA	p.L555L	MAP4K1_uc002oiw.1_Silent_p.L142L|MAP4K1_uc002oiy.1_Silent_p.L555L|MAP4K1_uc010xug.1_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	555	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Silent	SNP	39090569	39090569	9642	19	G	T	T	33	33	MAP4K1	T	2	2
NCCRP1	342897	broad.mit.edu	37	19	39691086	39691086	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39691086C>A	uc002okq.1	+	5	668	c.649C>A	c.(649-651)CGA>AGA	p.R217R		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	217	FBA.				protein catabolic process					ovary(1)	1																		---	---	---	---	capture		Silent	SNP	39691086	39691086	10612	19	C	A	A	23	23	NCCRP1	A	1	1
SPTBN4	57731	broad.mit.edu	37	19	41076417	41076417	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41076417C>A	uc002ony.2	+	33	7188	c.7102C>A	c.(7102-7104)CGG>AGG	p.R2368R	SPTBN4_uc002onz.2_Silent_p.R2368R|SPTBN4_uc010egx.2_Silent_p.R1111R	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2368					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---	capture		Silent	SNP	41076417	41076417	15635	19	C	A	A	31	31	SPTBN4	A	1	1
SNRPA	6626	broad.mit.edu	37	19	41257326	41257326	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41257326G>T	uc002ooz.2	+	1	548	c.13G>T	c.(13-15)GAG>TAG	p.E5*	C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	5						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)															---	---	---	---	capture		Nonsense_Mutation	SNP	41257326	41257326	15359	19	G	T	T	37	37	SNRPA	T	5	1
GSK3A	2931	broad.mit.edu	37	19	42740862	42740862	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42740862C>A	uc002otb.1	-	4	681	c.562G>T	c.(562-564)GAG>TAG	p.E188*	GSK3A_uc002ota.1_Nonsense_Mutation_p.E106*|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	188	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)																---	---	---	---	capture		Nonsense_Mutation	SNP	42740862	42740862	7103	19	C	A	A	31	31	GSK3A	A	5	1
CIC	23152	broad.mit.edu	37	19	42795796	42795796	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42795796C>G	uc002otf.1	+	11	2825	c.2785C>G	c.(2785-2787)CCT>GCT	p.P929A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	929	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	42795796	42795796	3558	19	C	G	G	22	22	CIC	G	3	3
PSG11	5680	broad.mit.edu	37	19	43523145	43523145	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43523145C>A	uc002ovm.1	-	3	593	c.486G>T	c.(484-486)ATG>ATT	p.M162I	PSG11_uc002ouw.2_Missense_Mutation_p.M168I|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.M168I|PSG11_uc002ovn.1_Missense_Mutation_p.M168I|PSG11_uc002ovo.1_Missense_Mutation_p.M40I|PSG11_uc002ovp.1_Missense_Mutation_p.M40I	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	162	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43523145	43523145	13107	19	C	A	A	21	21	PSG11	A	2	2
IRGQ	126298	broad.mit.edu	37	19	44097003	44097003	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44097003G>T	uc002oww.2	-	2	1165	c.1047C>A	c.(1045-1047)CCC>CCA	p.P349P	IRGQ_uc010eiv.2_Silent_p.P349P	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	349							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)																---	---	---	---	capture		Silent	SNP	44097003	44097003	8143	19	G	T	T	47	47	IRGQ	T	2	2
CADM4	199731	broad.mit.edu	37	19	44131919	44131919	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44131919C>A	uc002oxc.1	-	2	137	c.88G>T	c.(88-90)GAG>TAG	p.E30*		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	30	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)																---	---	---	---	capture		Nonsense_Mutation	SNP	44131919	44131919	2685	19	C	A	A	32	32	CADM4	A	5	2
ZNF180	7733	broad.mit.edu	37	19	44982160	44982160	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44982160G>T	uc002ozf.3	-	5	820	c.538C>A	c.(538-540)CAA>AAA	p.Q180K	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.Q153K|ZNF180_uc002ozg.3_Missense_Mutation_p.Q179K|ZNF180_uc010ejm.2_Missense_Mutation_p.Q155K	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)																---	---	---	---	capture		Missense_Mutation	SNP	44982160	44982160	18339	19	G	T	T	45	45	ZNF180	T	2	2
OPA3	80207	broad.mit.edu	37	19	46087920	46087920	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46087920C>A	uc002pck.3	-	1	203	c.103G>T	c.(103-105)GAG>TAG	p.E35*	OPA3_uc002pcj.3_Nonsense_Mutation_p.E35*|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	35					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)														---	---	---	---	capture		Nonsense_Mutation	SNP	46087920	46087920	11278	19	C	A	A	31	31	OPA3	A	5	1
SLC17A7	57030	broad.mit.edu	37	19	49938537	49938537	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49938537G>T	uc002pnp.2	-	3	494	c.322C>A	c.(322-324)CAG>AAG	p.Q108K	SLC17A7_uc002pnq.1_Missense_Mutation_p.Q41K	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	108	Extracellular (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)														---	---	---	---	capture		Missense_Mutation	SNP	49938537	49938537	14918	19	G	T	T	47	47	SLC17A7	T	2	2
CPT1C	126129	broad.mit.edu	37	19	50207980	50207980	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50207980G>T	uc002ppj.2	+	7	912	c.707G>T	c.(706-708)TGG>TTG	p.W236L	CPT1C_uc002ppl.3_Missense_Mutation_p.W202L|CPT1C_uc002ppi.2_Missense_Mutation_p.W153L|CPT1C_uc002ppk.2_Missense_Mutation_p.W236L|CPT1C_uc010eng.2_Missense_Mutation_p.W236L|CPT1C_uc010enh.2_Missense_Mutation_p.W236L|CPT1C_uc010ybc.1_Missense_Mutation_p.W74L|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	236	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---	capture		Missense_Mutation	SNP	50207980	50207980	3972	19	G	T	T	47	47	CPT1C	T	2	2
MYBPC2	4606	broad.mit.edu	37	19	50957559	50957559	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50957559G>T	uc002psf.2	+	18	1998	c.1947G>T	c.(1945-1947)TCG>TCT	p.S649S		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	649	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)														---	---	---	---	capture		Silent	SNP	50957559	50957559	10407	19	G	T	T	39	39	MYBPC2	T	1	1
KLK3	354	broad.mit.edu	37	19	51361743	51361743	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51361743G>T	uc002pts.1	+	4	563	c.522G>T	c.(520-522)GTG>GTT	p.V174V	KLK3_uc010ycj.1_Silent_p.V133V|KLK3_uc002ptr.1_Silent_p.V131V|KLK3_uc010eof.1_RNA	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	174	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)														---	---	---	---	capture		Silent	SNP	51361743	51361743	8719	19	G	T	T	47	47	KLK3	T	2	2
KLK7	5650	broad.mit.edu	37	19	51480838	51480838	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51480838C>T	uc002puo.2	-	6	818	c.716G>A	c.(715-717)TGC>TAC	p.C239Y	KLK7_uc002pup.2_Missense_Mutation_p.C239Y|KLK7_uc010yco.1_Missense_Mutation_p.C113Y|KLK7_uc010eok.2_Missense_Mutation_p.C167Y	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	239	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)														---	---	---	---	capture		Missense_Mutation	SNP	51480838	51480838	8723	19	C	T	T	25	25	KLK7	T	2	2
FPR3	2359	broad.mit.edu	37	19	52327252	52327252	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52327252C>T	uc002pxt.1	+	2	435	c.251C>T	c.(250-252)TCA>TTA	p.S84L		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	84	Extracellular (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	52327252	52327252	6286	19	C	T	T	29	29	FPR3	T	2	2
FPR3	2359	broad.mit.edu	37	19	52327257	52327257	+	Missense_Mutation	SNP	G	T	T	rs143250626	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52327257G>T	uc002pxt.1	+	2	440	c.256G>T	c.(256-258)GCC>TCC	p.A86S		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	86	Extracellular (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	52327257	52327257	6286	19	G	T	T	38	38	FPR3	T	1	1
ZNF577	84765	broad.mit.edu	37	19	52376052	52376052	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52376052G>T	uc010yde.1	-	7	1582	c.1191C>A	c.(1189-1191)TCC>TCA	p.S397S	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.S338S|ZNF577_uc002pxv.2_Silent_p.S390S|ZNF577_uc002pxw.2_Silent_p.S331S	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)														---	---	---	---	capture		Silent	SNP	52376052	52376052	18604	19	G	T	T	35	35	ZNF577	T	2	2
KIR2DL1	3802	broad.mit.edu	37	19	55285042	55285042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55285042C>T	uc002qhb.1	+	3	366	c.328C>T	c.(328-330)CAG>TAG	p.Q110*	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Nonsense_Mutation_p.Q110*	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	110	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Nonsense_Mutation	SNP	55285042	55285042	8628	19	C	T	T	29	29	KIR2DL1	T	5	2
GP6	51206	broad.mit.edu	37	19	55526303	55526303	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55526303C>A	uc002qik.2	-	8	1034	c.1006G>T	c.(1006-1008)GGG>TGG	p.G336W	GP6_uc002qil.2_Missense_Mutation_p.R337L|GP6_uc010esq.2_Missense_Mutation_p.G318W	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	336	Cytoplasmic (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---	capture		Missense_Mutation	SNP	55526303	55526303	6858	19	C	A	A	23	23	GP6	A	1	1
ZNF264	9422	broad.mit.edu	37	19	57723831	57723831	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57723831G>T	uc002qob.2	+	4	1779	c.1366G>T	c.(1366-1368)GAG>TAG	p.E456*		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	456	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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;0.0135)														---	---	---	---	capture		Nonsense_Mutation	SNP	57723831	57723831	18396	19	G	T	T	37	37	ZNF264	T	5	1
ZNF551	90233	broad.mit.edu	37	19	58198327	58198327	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58198327C>A	uc002qpw.3	+	3	859	c.636C>A	c.(634-636)TAC>TAA	p.Y212*	ZNF551_uc002qpv.3_Nonsense_Mutation_p.Y155*|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---	capture		Nonsense_Mutation	SNP	58198327	58198327	18578	19	C	A	A	17	17	ZNF551	A	5	2
TRIM28	10155	broad.mit.edu	37	19	59061384	59061384	+	Silent	SNP	C	A	A	rs147474463	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59061384C>A	uc002qtg.1	+	15	2464	c.2175C>A	c.(2173-2175)ACC>ACA	p.T725T	TRIM28_uc010eut.1_Silent_p.T643T|TRIM28_uc002qth.1_Silent_p.T340T	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	725	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)														---	---	---	---	capture		Silent	SNP	59061384	59061384	17046	19	C	A	A	23	23	TRIM28	A	1	1
PXDN	7837	broad.mit.edu	37	2	1667512	1667512	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1667512G>T	uc002qxa.2	-	12	1496	c.1432C>A	c.(1432-1434)CGG>AGG	p.R478R	PXDN_uc002qxb.1_Silent_p.R478R	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	478	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)														---	---	---	---	capture		Silent	SNP	1667512	1667512	13305	2	G	T	T	38	38	PXDN	T	1	1
PXDN	7837	broad.mit.edu	37	2	1670117	1670117	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1670117G>T	uc002qxa.2	-	10	1224	c.1160C>A	c.(1159-1161)CCG>CAG	p.P387Q	PXDN_uc002qxb.1_Missense_Mutation_p.P387Q|PXDN_uc002qxc.1_Missense_Mutation_p.P204Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	387	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	1670117	1670117	13305	2	G	T	T	39	39	PXDN	T	1	1
RNASEH1	246243	broad.mit.edu	37	2	3599829	3599829	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3599829C>G	uc002qxt.2	-	3	404	c.314G>C	c.(313-315)GGA>GCA	p.G105A	RNASEH1_uc002qxs.2_5'UTR	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	105					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)														---	---	---	---	capture		Missense_Mutation	SNP	3599829	3599829	13888	2	C	G	G	30	30	RNASEH1	G	3	3
ASAP2	8853	broad.mit.edu	37	2	9514948	9514948	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9514948G>C	uc002qzh.2	+	17	1961	c.1621G>C	c.(1621-1623)GCG>CCG	p.A541P	ASAP2_uc002qzi.2_Missense_Mutation_p.A541P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	541	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	9514948	9514948	1029	2	G	C	C	38	38	ASAP2	C	3	3
CPSF3	51692	broad.mit.edu	37	2	9576404	9576404	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9576404C>A	uc002qzo.1	+	7	709	c.674C>A	c.(673-675)ACT>AAT	p.T225N	CPSF3_uc010ewx.1_Missense_Mutation_p.T225N|CPSF3_uc002qzp.1_Missense_Mutation_p.T188N	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	225					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)														---	---	---	---	capture		Missense_Mutation	SNP	9576404	9576404	3964	2	C	A	A	20	20	CPSF3	A	2	2
NBAS	51594	broad.mit.edu	37	2	15378737	15378737	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15378737C>A	uc002rcc.1	-	45	5824	c.5798G>T	c.(5797-5799)AGG>ATG	p.R1933M	NBAS_uc002rcb.1_Translation_Start_Site|NBAS_uc010exl.1_Missense_Mutation_p.R1005M|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1933										ovary(2)|liver(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	15378737	15378737	10582	2	C	A	A	24	24	NBAS	A	2	2
UBXN2A	165324	broad.mit.edu	37	2	24194180	24194180	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24194180G>T	uc010exy.2	+	4	544	c.76G>T	c.(76-78)GGT>TGT	p.G26C	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.G26C|UBXN2A_uc010ykj.1_Missense_Mutation_p.G26C	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	26											0																		---	---	---	---	capture		Missense_Mutation	SNP	24194180	24194180	17472	2	G	T	T	47	47	UBXN2A	T	2	2
DNMT3A	1788	broad.mit.edu	37	2	25497891	25497891	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25497891C>A	uc002rgc.2	-	6	815	c.558G>T	c.(556-558)CCG>CCT	p.P186P	DNMT3A_uc002rgd.2_Silent_p.P186P|DNMT3A_uc010eyi.2_RNA	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	186					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---	capture		Silent	SNP	25497891	25497891	4859	2	C	A	A	31	31	DNMT3A	A	1	1
DTNB	1838	broad.mit.edu	37	2	25875473	25875473	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25875473G>T	uc002rgh.2	-	2	307	c.57C>A	c.(55-57)TTC>TTA	p.F19L	DTNB_uc010yko.1_5'Flank|DTNB_uc010ykp.1_5'UTR|DTNB_uc002rgo.2_5'UTR|DTNB_uc002rgi.2_Missense_Mutation_p.F19L|DTNB_uc002rgj.2_Missense_Mutation_p.F19L|DTNB_uc002rgk.2_Missense_Mutation_p.F19L|DTNB_uc002rgl.2_Missense_Mutation_p.F19L|DTNB_uc002rgq.2_Missense_Mutation_p.F19L|DTNB_uc002rgm.2_Missense_Mutation_p.F19L|DTNB_uc002rgn.2_5'UTR|DTNB_uc002rgr.1_Missense_Mutation_p.F8L|DTNB_uc010ykq.1_5'UTR	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	19						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	25875473	25875473	4974	2	G	T	T	45	45	DTNB	T	2	2
C2orf70	339778	broad.mit.edu	37	2	26802211	26802211	+	Nonsense_Mutation	SNP	G	T	T	rs147381361	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26802211G>T	uc010eyn.2	+	4	511	c.511G>T	c.(511-513)GAG>TAG	p.E171*		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	hypothetical protein LOC339778	171										skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	26802211	26802211	2278	2	G	T	T	37	37	C2orf70	T	5	1
MAPRE3	22924	broad.mit.edu	37	2	27245131	27245131	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27245131G>T	uc002rhw.2	+	2	198	c.45G>T	c.(43-45)CTG>CTT	p.L15L	MAPRE3_uc002rhx.2_Silent_p.L15L|MAPRE3_uc010yld.1_Silent_p.L15L	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family,	15	CH.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Silent	SNP	27245131	27245131	9679	2	G	T	T	45	45	MAPRE3	T	2	2
CCDC121	79635	broad.mit.edu	37	2	27849963	27849963	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27849963C>A	uc002rle.2	-	2	885	c.704G>T	c.(703-705)TGG>TTG	p.W235L	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.W399L|CCDC121_uc002rld.2_Missense_Mutation_p.W397L|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	235	Potential.										0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27849963	27849963	2877	2	C	A	A	21	21	CCDC121	A	2	2
WDR43	23160	broad.mit.edu	37	2	29135503	29135503	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29135503C>A	uc002rmo.2	+	4	565	c.533C>A	c.(532-534)CCA>CAA	p.P178Q	SNORD92_uc002rmp.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	178	WD 4.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	29135503	29135503	17868	2	C	A	A	21	21	WDR43	A	2	2
HEATR5B	54497	broad.mit.edu	37	2	37310555	37310555	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37310555C>A	uc002rpp.1	-	2	99	c.3G>T	c.(1-3)ATG>ATT	p.M1I	CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37310555	37310555	7315	2	C	A	A	21	21	HEATR5B	A	2	2
ATL2	64225	broad.mit.edu	37	2	38546127	38546127	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38546127G>T	uc002rqq.2	-	3	428	c.398C>A	c.(397-399)CCA>CAA	p.P133Q	ATL2_uc010ynm.1_Missense_Mutation_p.P115Q|ATL2_uc010ynn.1_Missense_Mutation_p.P115Q|ATL2_uc010yno.1_5'UTR|ATL2_uc002rqs.2_Missense_Mutation_p.P133Q|ATL2_uc002rqr.2_5'UTR	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	133	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	38546127	38546127	1126	2	G	T	T	47	47	ATL2	T	2	2
THADA	63892	broad.mit.edu	37	2	43571337	43571337	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43571337C>A	uc002rsw.3	-	30	4619	c.4267G>T	c.(4267-4269)GGA>TGA	p.G1423*	THADA_uc010far.2_Nonsense_Mutation_p.G618*|THADA_uc002rsx.3_Nonsense_Mutation_p.G1423*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.G1132*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1423							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---	capture		Nonsense_Mutation	SNP	43571337	43571337	16368	2	C	A	A	23	23	THADA	A	5	1
USP34	9736	broad.mit.edu	37	2	61528293	61528293	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61528293C>A	uc002sbe.2	-	29	3943	c.3921G>T	c.(3919-3921)ATG>ATT	p.M1307I		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1307					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	61528293	61528293	17629	2	C	A	A	21	21	USP34	A	2	2
PCYOX1	51449	broad.mit.edu	37	2	70486552	70486552	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70486552G>T	uc002sgn.3	+	2	239	c.173G>T	c.(172-174)GGG>GTG	p.G58V	PCYOX1_uc010fdo.2_5'UTR|PCYOX1_uc010yqu.1_Missense_Mutation_p.G58V	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	58					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	70486552	70486552	12029	2	G	T	T	43	43	PCYOX1	T	2	2
MPHOSPH10	10199	broad.mit.edu	37	2	71361836	71361836	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71361836C>A	uc002sht.1	+	4	1359	c.1007C>A	c.(1006-1008)CCA>CAA	p.P336Q	MPHOSPH10_uc010feb.1_Missense_Mutation_p.P336Q	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	336					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	71361836	71361836	10117	2	C	A	A	21	21	MPHOSPH10	A	2	2
CYP26B1	56603	broad.mit.edu	37	2	72362356	72362356	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72362356C>A	uc002sih.1	-	3	622	c.622G>T	c.(622-624)GGG>TGG	p.G208W	CYP26B1_uc010yra.1_Missense_Mutation_p.G191W|CYP26B1_uc010yrb.1_Missense_Mutation_p.G133W	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	208					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	72362356	72362356	4321	2	C	A	A	21	21	CYP26B1	A	2	2
TPRKB	51002	broad.mit.edu	37	2	73961573	73961573	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73961573G>T	uc002sjn.2	-	2	235	c.124C>A	c.(124-126)CTG>ATG	p.L42M	TPRKB_uc002sjm.2_Missense_Mutation_p.L42M|TPRKB_uc002sjl.2_Intron|TPRKB_uc002sjo.2_Missense_Mutation_p.L42M|TPRKB_uc010yrm.1_Intron	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	42					protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	73961573	73961573	16964	2	G	T	T	36	36	TPRKB	T	2	2
DCTN1	1639	broad.mit.edu	37	2	74597615	74597615	+	Missense_Mutation	SNP	G	T	T	rs149499018		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74597615G>T	uc002skx.2	-	11	1416	c.1105C>A	c.(1105-1107)CGC>AGC	p.R369S	DCTN1_uc002skv.2_Missense_Mutation_p.R235S|DCTN1_uc002sku.2_Missense_Mutation_p.R235S|DCTN1_uc002skw.1_Missense_Mutation_p.R345S|DCTN1_uc010ffd.2_Missense_Mutation_p.R349S|DCTN1_uc002sky.2_Missense_Mutation_p.R332S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	369	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	74597615	74597615	4477	2	G	T	T	39	39	DCTN1	T	1	1
SEMA4F	10505	broad.mit.edu	37	2	74906814	74906814	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74906814G>T	uc002sna.1	+	14	1902	c.1791G>T	c.(1789-1791)GTG>GTT	p.V597V	SEMA4F_uc010ffr.1_Silent_p.V209V|SEMA4F_uc002snb.1_Silent_p.V209V|SEMA4F_uc002snc.1_Silent_p.V442V	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	597	Ig-like C2-type.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	74906814	74906814	14521	2	G	T	T	48	48	SEMA4F	T	2	2
HK2	3099	broad.mit.edu	37	2	75094768	75094768	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75094768G>T	uc002snd.2	+	3	2158	c.232G>T	c.(232-234)GGA>TGA	p.G78*		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	78	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	75094768	75094768	7482	2	G	T	T	39	39	HK2	T	5	1
LRRTM4	80059	broad.mit.edu	37	2	77746397	77746397	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:77746397C>A	uc002snr.2	-	3	1013	c.598G>T	c.(598-600)GCA>TCA	p.A200S	LRRTM4_uc002snq.2_Missense_Mutation_p.A200S|LRRTM4_uc002sns.2_Missense_Mutation_p.A200S|LRRTM4_uc002snt.2_Missense_Mutation_p.A201S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	200	Extracellular (Potential).|LRR 6.					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)														---	---	---	---	capture		Missense_Mutation	SNP	77746397	77746397	9418	2	C	A	A	25	25	LRRTM4	A	2	2
REG3G	130120	broad.mit.edu	37	2	79254970	79254970	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79254970G>T	uc002snw.2	+	5	456	c.371G>T	c.(370-372)AGC>ATC	p.S124I	REG3G_uc002snx.2_Missense_Mutation_p.S124I|REG3G_uc010ffu.2_Missense_Mutation_p.S78I	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	124	C-type lectin.				acute-phase response	extracellular region	sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	79254970	79254970	13682	2	G	T	T	34	34	REG3G	T	2	2
CTNNA2	1496	broad.mit.edu	37	2	80085138	80085138	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80085138G>T	uc010ysh.1	+	3	304	c.299_splice	c.e3-1	p.G100_splice	CTNNA2_uc010yse.1_Splice_Site_p.G100_splice|CTNNA2_uc010ysf.1_Splice_Site_p.G100_splice|CTNNA2_uc010ysg.1_Splice_Site_p.G100_splice	NM_004389	NP_004380			catenin, alpha 2 isoform 1						axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Splice_Site	SNP	80085138	80085138	4172	2	G	T	T	35	35	CTNNA2	T	5	2
CTNNA2	1496	broad.mit.edu	37	2	80096961	80096961	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80096961C>A	uc010ysh.1	+	4	490	c.485C>A	c.(484-486)GCT>GAT	p.A162D	CTNNA2_uc010yse.1_Missense_Mutation_p.A162D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A162D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A162D	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	162					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	80096961	80096961	4172	2	C	A	A	28	28	CTNNA2	A	2	2
DNAH6	1768	broad.mit.edu	37	2	84784929	84784929	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84784929C>A	uc010fgb.2	+	11	1810	c.1673C>A	c.(1672-1674)TCG>TAG	p.S558*	DNAH6_uc002soo.2_Nonsense_Mutation_p.S137*|DNAH6_uc002sop.2_Nonsense_Mutation_p.S137*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy polypeptide 6	558	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		Nonsense_Mutation	SNP	84784929	84784929	4788	2	C	A	A	31	31	DNAH6	A	5	1
DNAH6	1768	broad.mit.edu	37	2	84784986	84784986	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84784986G>T	uc010fgb.2	+	11	1867	c.1730G>T	c.(1729-1731)TGT>TTT	p.C577F	DNAH6_uc002soo.2_Missense_Mutation_p.C156F|DNAH6_uc002sop.2_Missense_Mutation_p.C156F	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy polypeptide 6	577	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	84784986	84784986	4788	2	G	T	T	48	48	DNAH6	T	2	2
CAPG	822	broad.mit.edu	37	2	85628769	85628769	+	Silent	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85628769G>C	uc002spl.1	-	4	484	c.234C>G	c.(232-234)GCC>GCG	p.A78A	CAPG_uc002spm.1_Silent_p.A78A|CAPG_uc010ysq.1_Silent_p.A78A|CAPG_uc010fgi.1_Silent_p.A78A|CAPG_uc010fgj.1_5'UTR	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	78					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0																		---	---	---	---	capture		Silent	SNP	85628769	85628769	2738	2	G	C	C	39	39	CAPG	C	3	3
GGCX	2677	broad.mit.edu	37	2	85780357	85780357	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85780357G>T	uc002sps.2	-	8	1259	c.1153C>A	c.(1153-1155)CAG>AAG	p.Q385K	GGCX_uc010yss.1_Missense_Mutation_p.Q224K|GGCX_uc010yst.1_Missense_Mutation_p.Q328K	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	385	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)													---	---	---	---	capture		Missense_Mutation	SNP	85780357	85780357	6624	2	G	T	T	47	47	GGCX	T	2	2
VPS24	51652	broad.mit.edu	37	2	86756432	86756432	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86756432C>A	uc002srj.2	-	3	324	c.195G>T	c.(193-195)AAG>AAT	p.K65N	VPS24_uc002srk.2_Translation_Start_Site|VPS24_uc002srl.2_Missense_Mutation_p.K65N|VPS24_uc010ytl.1_Missense_Mutation_p.K94N	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1	65	Intramolecular interaction with C- terminus.				cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	86756432	86756432	17762	2	C	A	A	24	24	VPS24	A	2	2
STARD7	56910	broad.mit.edu	37	2	96858162	96858162	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96858162C>A	uc002svm.3	-	6	1189	c.788G>T	c.(787-789)AGG>ATG	p.R263M	STARD7_uc002svl.2_Missense_Mutation_p.R41M	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	START domain containing 7 precursor	263	START.					mitochondrion					0																		---	---	---	---	capture		Missense_Mutation	SNP	96858162	96858162	15781	2	C	A	A	24	24	STARD7	A	2	2
VWA3B	200403	broad.mit.edu	37	2	98887223	98887223	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98887223C>A	uc002syo.2	+	22	3186	c.2922C>A	c.(2920-2922)CCC>CCA	p.P974P	VWA3B_uc002sym.2_Silent_p.P974P|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.P631P|VWA3B_uc002syp.1_Silent_p.P366P|VWA3B_uc002syq.1_Silent_p.P250P|VWA3B_uc002syr.1_Silent_p.P291P|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	974										ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	98887223	98887223	17810	2	C	A	A	21	21	VWA3B	A	2	2
REV1	51455	broad.mit.edu	37	2	100029392	100029392	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100029392G>A	uc002tad.2	-	13	2185	c.1973C>T	c.(1972-1974)TCT>TTT	p.S658F	REV1_uc002tac.2_Missense_Mutation_p.S657F	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	658					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2													DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---	capture		Missense_Mutation	SNP	100029392	100029392	13709	2	G	A	A	33	33	REV1	A	2	2
PTPN4	5775	broad.mit.edu	37	2	120703926	120703926	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120703926G>T	uc002tmf.1	+	17	2296	c.1525G>T	c.(1525-1527)GGT>TGT	p.G509C	PTPN4_uc010flj.1_Missense_Mutation_p.G222C|PTPN4_uc010yyr.1_Missense_Mutation_p.G142C	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	509						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)													---	---	---	---	capture		Missense_Mutation	SNP	120703926	120703926	13247	2	G	T	T	47	47	PTPN4	T	2	2
EPB41L5	57669	broad.mit.edu	37	2	120918470	120918470	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120918470G>T	uc002tmg.2	+	21	1933	c.1807G>T	c.(1807-1809)GAG>TAG	p.E603*	EPB41L5_uc010fll.2_Nonsense_Mutation_p.E603*|EPB41L5_uc010flm.2_Nonsense_Mutation_p.E407*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	603						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	120918470	120918470	5350	2	G	T	T	45	45	EPB41L5	T	5	2
BIN1	274	broad.mit.edu	37	2	127806129	127806129	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:127806129G>T	uc002tns.1	-	19	2100	c.1755C>A	c.(1753-1755)CCC>CCA	p.P585P	BIN1_uc010yzf.1_Silent_p.P377P|BIN1_uc010yzg.1_Silent_p.P462P|BIN1_uc002tnu.1_Silent_p.P416P|BIN1_uc002toa.1_Silent_p.P474P|BIN1_uc002tnt.1_Silent_p.P401P|BIN1_uc002tnv.1_Silent_p.P542P|BIN1_uc002tnw.1_Silent_p.P489P|BIN1_uc002tnx.1_Silent_p.P446P|BIN1_uc002tny.1_Silent_p.P498P|BIN1_uc002tnz.1_Silent_p.P510P|BIN1_uc002tob.1_Silent_p.P431P|BIN1_uc002toc.1_Silent_p.P467P	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	585	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)														---	---	---	---	capture		Silent	SNP	127806129	127806129	1457	2	G	T	T	39	39	BIN1	T	1	1
UGGT1	56886	broad.mit.edu	37	2	128878864	128878864	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128878864C>A	uc002tps.2	+	10	1243	c.1065C>A	c.(1063-1065)ACC>ACA	p.T355T	UGGT1_uc010fme.1_Silent_p.T230T|UGGT1_uc002tpr.2_Silent_p.T331T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	355					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	128878864	128878864	17499	2	C	A	A	21	21	UGGT1	A	2	2
HNMT	3176	broad.mit.edu	37	2	138722134	138722134	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138722134C>A	uc002tvc.2	+	2	221	c.73C>A	c.(73-75)CAT>AAT	p.H25N	HNMT_uc002tvd.2_Missense_Mutation_p.H25N|HNMT_uc002tve.2_Missense_Mutation_p.H25N|HNMT_uc002tvf.2_Missense_Mutation_p.H25N	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	25					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)													---	---	---	---	capture		Missense_Mutation	SNP	138722134	138722134	7547	2	C	A	A	21	21	HNMT	A	2	2
HNMT	3176	broad.mit.edu	37	2	138762707	138762707	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138762707G>T	uc002tvc.2	+	6	583	c.435G>T	c.(433-435)CTG>CTT	p.L145L	HNMT_uc002tvf.2_Silent_p.L145L	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	145					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)													---	---	---	---	capture		Silent	SNP	138762707	138762707	7547	2	G	T	T	48	48	HNMT	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141299382	141299382	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141299382C>A	uc002tvj.1	-	44	8325	c.7353G>T	c.(7351-7353)ATG>ATT	p.M2451I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2451	Extracellular (Potential).|LDL-receptor class B 27.				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	141299382	141299382	9328	2	C	A	A	21	21	LRP1B	A	2	2
LRP1B	53353	broad.mit.edu	37	2	141665446	141665446	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141665446C>A	uc002tvj.1	-	22	4492	c.3520G>T	c.(3520-3522)GAT>TAT	p.D1174Y	LRP1B_uc010fnl.1_Missense_Mutation_p.D356Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1174	Extracellular (Potential).|LDL-receptor class A 10.				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	141665446	141665446	9328	2	C	A	A	21	21	LRP1B	A	2	2
GTDC1	79712	broad.mit.edu	37	2	144710391	144710391	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144710391C>A	uc002tvp.2	-	10	1429	c.1150G>T	c.(1150-1152)GGG>TGG	p.G384W	GTDC1_uc002tvo.2_Silent_p.V335V|GTDC1_uc002tvq.2_Missense_Mutation_p.G266W|GTDC1_uc002tvr.2_Missense_Mutation_p.G299W|GTDC1_uc010fnn.2_Missense_Mutation_p.G384W|GTDC1_uc002tvs.2_Missense_Mutation_p.G352W|GTDC1_uc010fno.2_Missense_Mutation_p.G255W	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	384					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)														---	---	---	---	capture		Missense_Mutation	SNP	144710391	144710391	7131	2	C	A	A	21	21	GTDC1	A	2	2
GTDC1	79712	broad.mit.edu	37	2	144903215	144903215	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144903215C>A	uc002tvp.2	-	5	550	c.271G>T	c.(271-273)GAG>TAG	p.E91*	GTDC1_uc002tvo.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvq.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvr.2_Nonsense_Mutation_p.E91*|GTDC1_uc010fnn.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvs.2_Nonsense_Mutation_p.E59*|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Nonsense_Mutation_p.E91*	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	91					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)														---	---	---	---	capture		Nonsense_Mutation	SNP	144903215	144903215	7131	2	C	A	A	31	31	GTDC1	A	5	1
NEB	4703	broad.mit.edu	37	2	152342299	152342299	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152342299G>T	uc010fnx.2	-	149	20176	c.19985C>A	c.(19984-19986)CCA>CAA	p.P6662Q	NEB_uc002txr.2_Missense_Mutation_p.P2992Q|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.P431Q|NEB_uc002txq.2_Missense_Mutation_p.P541Q|NEB_uc010zca.1_Missense_Mutation_p.P493Q|NEB_uc010zcb.1_Missense_Mutation_p.P431Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6662	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152342299	152342299	10701	2	G	T	T	47	47	NEB	T	2	2
NEB	4703	broad.mit.edu	37	2	152543961	152543961	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152543961G>A	uc010fnx.2	-	27	2800	c.2609C>T	c.(2608-2610)TCC>TTC	p.S870F		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	870	Nebulin 20.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152543961	152543961	10701	2	G	A	A	41	41	NEB	A	2	2
STAM2	10254	broad.mit.edu	37	2	152989708	152989708	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152989708G>T	uc002tyc.3	-	10	1299	c.949C>A	c.(949-951)CAA>AAA	p.Q317K	STAM2_uc010foa.1_Missense_Mutation_p.Q317K|STAM2_uc002tyd.2_Missense_Mutation_p.Q317K	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	317					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	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)														---	---	---	---	capture		Missense_Mutation	SNP	152989708	152989708	15768	2	G	T	T	47	47	STAM2	T	2	2
PRPF40A	55660	broad.mit.edu	37	2	153532918	153532918	+	Splice_Site	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153532918C>G	uc002tyi.2	-	10	1125	c.1112_splice	c.e10+1	p.D371_splice	PRPF40A_uc002tyh.3_Splice_Site_p.D344_splice|PRPF40A_uc010zcd.1_Splice_Site_p.D291_splice|PRPF40A_uc002tyj.2_Splice_Site_p.D240_splice	NM_017892	NP_060362			formin binding protein 3						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---	capture		Splice_Site	SNP	153532918	153532918	13014	2	C	G	G	20	20	PRPF40A	G	5	3
GALNT13	114805	broad.mit.edu	37	2	154801051	154801051	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:154801051C>A	uc002tyr.3	+	3	608	c.41C>A	c.(40-42)TCG>TAG	p.S14*	GALNT13_uc002tyt.3_Nonsense_Mutation_p.S14*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	14	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	154801051	154801051	6475	2	C	A	A	31	31	GALNT13	A	5	1
GALNT13	114805	broad.mit.edu	37	2	155157964	155157964	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155157964C>A	uc002tyr.3	+	9	1585	c.1018C>A	c.(1018-1020)CAT>AAT	p.H340N	GALNT13_uc002tyt.3_Missense_Mutation_p.H340N|GALNT13_uc010foc.1_Missense_Mutation_p.H159N|GALNT13_uc010fod.2_Missense_Mutation_p.H93N	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	340	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	155157964	155157964	6475	2	C	A	A	21	21	GALNT13	A	2	2
TANC1	85461	broad.mit.edu	37	2	160035422	160035422	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160035422G>T	uc002uag.2	+	14	2532	c.2258G>T	c.(2257-2259)AGG>ATG	p.R753M	TANC1_uc010fol.1_Missense_Mutation_p.R647M|TANC1_uc010zcm.1_Missense_Mutation_p.R745M|TANC1_uc010fom.1_Missense_Mutation_p.R559M|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	753						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	160035422	160035422	16065	2	G	T	T	35	35	TANC1	T	2	2
MARCH7	64844	broad.mit.edu	37	2	160604504	160604504	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160604504C>A	uc002uax.2	+	5	825	c.703C>A	c.(703-705)CGA>AGA	p.R235R	MARCH7_uc010foq.2_Silent_p.R235R|MARCH7_uc010zcn.1_Silent_p.R179R|MARCH7_uc010for.2_Silent_p.R197R|MARCH7_uc002uay.2_RNA	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	235	Ser-rich.						ligase activity|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	160604504	160604504	9689	2	C	A	A	23	23	MARCH7	A	1	1
FIGN	55137	broad.mit.edu	37	2	164591413	164591413	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164591413C>A	uc002uck.1	-	2	336	c.25G>T	c.(25-27)GGC>TGC	p.G9C		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	9						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	164591413	164591413	6129	2	C	A	A	21	21	FIGN	A	2	2
GRB14	2888	broad.mit.edu	37	2	165353980	165353980	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165353980G>T	uc002ucl.2	-	10	1666	c.1125C>A	c.(1123-1125)TCC>TCA	p.S375S	GRB14_uc010zcv.1_Silent_p.S288S|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	375					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7																		---	---	---	---	capture		Silent	SNP	165353980	165353980	7034	2	G	T	T	43	43	GRB14	T	2	2
LRP2	4036	broad.mit.edu	37	2	170007453	170007453	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170007453G>A	uc002ues.2	-	68	12758	c.12545C>T	c.(12544-12546)ACT>ATT	p.T4182I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4182	Extracellular (Potential).|LDL-receptor class B 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Missense_Mutation	SNP	170007453	170007453	9329	2	G	A	A	36	36	LRP2	A	2	2
LRP2	4036	broad.mit.edu	37	2	170070377	170070377	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170070377C>A	uc002ues.2	-	36	6043	c.5830G>T	c.(5830-5832)GAA>TAA	p.E1944*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1944	LDL-receptor class B 18.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Nonsense_Mutation	SNP	170070377	170070377	9329	2	C	A	A	29	29	LRP2	A	5	2
MYO3B	140469	broad.mit.edu	37	2	171509574	171509574	+	Silent	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171509574A>T	uc002ufy.2	+	35	4112	c.3969A>T	c.(3967-3969)TCA>TCT	p.S1323S	MYO3B_uc002ufz.2_Silent_p.S1296S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1323					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19																		---	---	---	---	capture		Silent	SNP	171509574	171509574	10472	2	A	T	T	7	7	MYO3B	T	4	4
ZAK	51776	broad.mit.edu	37	2	174062785	174062785	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174062785C>A	uc002uhz.2	+	8	814	c.614C>A	c.(613-615)CCC>CAC	p.P205H	ZAK_uc002uhx.2_Missense_Mutation_p.P205H|ZAK_uc002uhy.2_Missense_Mutation_p.P205H|ZAK_uc010zei.1_Missense_Mutation_p.P104H|ZAK_uc002uia.1_Missense_Mutation_p.P205H|uc002uib.2_RNA	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	205	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)															---	---	---	---	capture		Missense_Mutation	SNP	174062785	174062785	18095	2	C	A	A	22	22	ZAK	A	2	2
CIR1	9541	broad.mit.edu	37	2	175260347	175260347	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175260347C>A	uc002uim.2	-	1	97	c.4G>T	c.(4-6)GGG>TGG	p.G2W	CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR|SCRN3_uc002uiq.2_5'Flank|SCRN3_uc010zen.1_5'Flank|SCRN3_uc010zeo.1_5'Flank|SCRN3_uc002uir.1_5'Flank	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	2	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	175260347	175260347	3566	2	C	A	A	22	22	CIR1	A	2	2
HOXD10	3236	broad.mit.edu	37	2	176981715	176981715	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176981715G>T	uc002ukj.2	+	1	224	c.154G>T	c.(154-156)GGA>TGA	p.G52*		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	52						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)														---	---	---	---	capture		Nonsense_Mutation	SNP	176981715	176981715	7611	2	G	T	T	47	47	HOXD10	T	5	2
PRKRA	8575	broad.mit.edu	37	2	179315083	179315083	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179315083C>A	uc002umf.2	-	2	322	c.121G>T	c.(121-123)GAA>TAA	p.E41*	PRKRA_uc002umd.2_Nonsense_Mutation_p.E16*|PRKRA_uc002ume.2_Nonsense_Mutation_p.E30*|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	41	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		Nonsense_Mutation	SNP	179315083	179315083	12967	2	C	A	A	31	31	PRKRA	A	5	1
TTN	7273	broad.mit.edu	37	2	179400362	179400362	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179400362C>A	uc010zfg.1	-	307	93500	c.93276G>T	c.(93274-93276)GAG>GAT	p.E31092D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24787D|TTN_uc010zfi.1_Missense_Mutation_p.E24720D|TTN_uc010zfj.1_Missense_Mutation_p.E24595D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32019							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	179400362	179400362	17290	2	C	A	A	32	32	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179432907	179432907	+	Silent	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179432907A>T	uc010zfg.1	-	275	70472	c.70248T>A	c.(70246-70248)GCT>GCA	p.A23416A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A17111A|TTN_uc010zfi.1_Silent_p.A17044A|TTN_uc010zfj.1_Silent_p.A16919A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24343							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	179432907	179432907	17290	2	A	T	T	11	11	TTN	T	4	4
TTN	7273	broad.mit.edu	37	2	179468687	179468687	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179468687G>T	uc010zfg.1	-	231	47247	c.47023C>A	c.(47023-47025)CAG>AAG	p.Q15675K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q9370K|TTN_uc010zfi.1_Missense_Mutation_p.Q9303K|TTN_uc010zfj.1_Missense_Mutation_p.Q9178K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16602							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	179468687	179468687	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179484438	179484438	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179484438G>T	uc010zfg.1	-	199	39126	c.38902C>A	c.(38902-38904)CTA>ATA	p.L12968I	TTN_uc010zfh.1_Missense_Mutation_p.L6663I|TTN_uc010zfi.1_Missense_Mutation_p.L6596I|TTN_uc010zfj.1_Missense_Mutation_p.L6471I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13895							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	179484438	179484438	17290	2	G	T	T	36	36	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179545846	179545846	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179545846G>T	uc010zfg.1	-	135	29792	c.29568C>A	c.(29566-29568)ACC>ACA	p.T9856T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T6517T|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	10783							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	179545846	179545846	17290	2	G	T	T	47	47	TTN	T	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801162	185801162	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185801162C>G	uc002uph.2	+	4	1633	c.1039C>G	c.(1039-1041)CCT>GCT	p.P347A		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	347						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	185801162	185801162	18768	2	C	G	G	18	18	ZNF804A	G	3	3
CALCRL	10203	broad.mit.edu	37	2	188243719	188243719	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:188243719C>A	uc002upv.3	-	8	996	c.448G>T	c.(448-450)GGA>TGA	p.G150*	CALCRL_uc010frt.2_Nonsense_Mutation_p.G150*	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)															---	---	---	---	capture		Nonsense_Mutation	SNP	188243719	188243719	2696	2	C	A	A	23	23	CALCRL	A	5	1
TFPI	7035	broad.mit.edu	37	2	188361711	188361711	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:188361711G>A	uc002upx.2	-	3	249	c.216C>T	c.(214-216)TTC>TTT	p.F72F	TFPI_uc002upy.2_Silent_p.F72F|TFPI_uc002upz.2_Silent_p.F68F|TFPI_uc002uqa.2_Silent_p.F72F|TFPI_uc002uqb.2_Silent_p.F72F	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	72	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)													---	---	---	---	capture		Silent	SNP	188361711	188361711	16336	2	G	A	A	45	45	TFPI	A	2	2
STAT4	6775	broad.mit.edu	37	2	191934480	191934480	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191934480G>T	uc002usm.1	-	6	737	c.483C>A	c.(481-483)ACC>ACA	p.T161T	STAT4_uc002usn.1_Silent_p.T161T|STAT4_uc010zgk.1_Silent_p.T6T|STAT4_uc002uso.2_Silent_p.T161T	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	161					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---	capture		Silent	SNP	191934480	191934480	15787	2	G	T	T	47	47	STAT4	T	2	2
DNAH7	56171	broad.mit.edu	37	2	196822072	196822072	+	Silent	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196822072T>A	uc002utj.3	-	19	3092	c.2991A>T	c.(2989-2991)CCA>CCT	p.P997P		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	997	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---	capture		Silent	SNP	196822072	196822072	4789	2	T	A	A	55	55	DNAH7	A	4	4
HECW2	57520	broad.mit.edu	37	2	197085593	197085593	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197085593C>A	uc002utm.1	-	25	4402	c.4219G>T	c.(4219-4221)GAG>TAG	p.E1407*	HECW2_uc002utl.1_Nonsense_Mutation_p.E1051*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1407	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---	capture		Nonsense_Mutation	SNP	197085593	197085593	7326	2	C	A	A	31	31	HECW2	A	5	1
HECW2	57520	broad.mit.edu	37	2	197189769	197189769	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197189769G>T	uc002utm.1	-	6	859	c.676C>A	c.(676-678)CAC>AAC	p.H226N	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	226	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	197189769	197189769	7326	2	G	T	T	47	47	HECW2	T	2	2
PLCL1	5334	broad.mit.edu	37	2	198950016	198950016	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198950016G>T	uc010fsp.2	+	2	2066	c.1775G>T	c.(1774-1776)TGT>TTT	p.C592F	PLCL1_uc002uuv.3_Missense_Mutation_p.C513F	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;	592	PI-PLC Y-box.				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		Missense_Mutation	SNP	198950016	198950016	12465	2	G	T	T	48	48	PLCL1	T	2	2
ALS2	57679	broad.mit.edu	37	2	202593846	202593846	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202593846G>T	uc002uyo.2	-	14	2997	c.2641C>A	c.(2641-2643)CAT>AAT	p.H881N	ALS2_uc002uyp.3_Missense_Mutation_p.H881N|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	881	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	202593846	202593846	553	2	G	T	T	47	47	ALS2	T	2	2
ICOS	29851	broad.mit.edu	37	2	204821419	204821419	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204821419C>A	uc002vam.2	+	3	499	c.432C>A	c.(430-432)CCC>CCA	p.P144P	ICOS_uc010zip.1_Silent_p.P144P|ICOS_uc010fua.2_Silent_p.P144P	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	144	Helical; (Potential).				immune response|T cell costimulation	extracellular region					0																		---	---	---	---	capture		Silent	SNP	204821419	204821419	7786	2	C	A	A	21	21	ICOS	A	2	2
NRP2	8828	broad.mit.edu	37	2	206562279	206562279	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206562279G>T	uc002vaw.2	+	2	876	c.85G>T	c.(85-87)GGA>TGA	p.G29*	NRP2_uc002vat.2_Nonsense_Mutation_p.G29*|NRP2_uc002vau.2_Nonsense_Mutation_p.G29*|NRP2_uc002vav.2_Nonsense_Mutation_p.G29*|NRP2_uc002vax.2_Nonsense_Mutation_p.G29*|NRP2_uc002vay.2_Nonsense_Mutation_p.G29*|NRP2_uc010fud.2_Nonsense_Mutation_p.G29*	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	29	Extracellular (Potential).|CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	206562279	206562279	11066	2	G	T	T	39	39	NRP2	T	5	1
CREB1	1385	broad.mit.edu	37	2	208440037	208440037	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208440037G>T	uc002vcc.2	+	7	840	c.589G>T	c.(589-591)GGT>TGT	p.G197C	CREB1_uc010ziz.1_Missense_Mutation_p.G181C|CREB1_uc002vcd.2_Missense_Mutation_p.G183C|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	197					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								---	---	---	---	capture		Missense_Mutation	SNP	208440037	208440037	3993	2	G	T	T	47	47	CREB1	T	2	2
PLEKHM3	389072	broad.mit.edu	37	2	208725977	208725977	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208725977C>A	uc002vcl.2	-	7	2450	c.1960G>T	c.(1960-1962)GGA>TGA	p.G654*		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	654					intracellular signal transduction		metal ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	208725977	208725977	12508	2	C	A	A	22	22	PLEKHM3	A	5	2
SMARCAL1	50485	broad.mit.edu	37	2	217347694	217347694	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217347694C>A	uc002vgc.3	+	18	3189	c.2859C>A	c.(2857-2859)CCC>CCA	p.P953P	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.P953P|SMARCAL1_uc010fvg.2_Silent_p.P931P	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	953					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)										Schimke_Immuno-Osseous_Dysplasia				---	---	---	---	capture		Silent	SNP	217347694	217347694	15271	2	C	A	A	22	22	SMARCAL1	A	2	2
USP37	57695	broad.mit.edu	37	2	219394731	219394731	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219394731C>A	uc002vie.2	-	10	1264	c.811G>T	c.(811-813)GGT>TGT	p.G271C	USP37_uc010fvs.1_Missense_Mutation_p.G271C|USP37_uc010zkf.1_Missense_Mutation_p.G271C|USP37_uc002vif.2_Missense_Mutation_p.G271C|USP37_uc002vig.2_Missense_Mutation_p.G199C|USP37_uc010zkg.1_Missense_Mutation_p.G271C	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	271					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---	capture		Missense_Mutation	SNP	219394731	219394731	17632	2	C	A	A	21	21	USP37	A	2	2
CCDC108	255101	broad.mit.edu	37	2	219870856	219870856	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219870856G>C	uc002vjl.1	-	31	4893	c.4809C>G	c.(4807-4809)TGC>TGG	p.C1603W		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1603						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219870856	219870856	2863	2	G	C	C	42	42	CCDC108	C	3	3
STK11IP	114790	broad.mit.edu	37	2	220478475	220478475	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220478475G>T	uc002vml.2	+	21	2615	c.2572G>T	c.(2572-2574)GAG>TAG	p.E858*		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	858					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Nonsense_Mutation	SNP	220478475	220478475	15808	2	G	T	T	45	45	STK11IP	T	5	2
CUL3	8452	broad.mit.edu	37	2	225422495	225422495	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225422495T>C	uc002vny.2	-	2	529	c.145A>G	c.(145-147)AAC>GAC	p.N49D	CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.N55D	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	49					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---	capture		Missense_Mutation	SNP	225422495	225422495	4216	2	T	C	C	61	61	CUL3	C	4	4
DOCK10	55619	broad.mit.edu	37	2	225669923	225669923	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225669923C>A	uc010fwz.1	-	36	4290	c.4051G>T	c.(4051-4053)GAG>TAG	p.E1351*	DOCK10_uc002vob.2_Nonsense_Mutation_p.E1345*|DOCK10_uc002voa.2_Nonsense_Mutation_p.E7*|DOCK10_uc002voc.2_Nonsense_Mutation_p.E205*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1351							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---	capture		Nonsense_Mutation	SNP	225669923	225669923	4869	2	C	A	A	23	23	DOCK10	A	5	1
COL4A4	1286	broad.mit.edu	37	2	227876943	227876943	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227876943G>T	uc010zlt.1	-	44	4941	c.4287C>A	c.(4285-4287)CCC>CCA	p.P1429P		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1429	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---	capture		Silent	SNP	227876943	227876943	3831	2	G	T	T	39	39	COL4A4	T	1	1
COL4A3	1285	broad.mit.edu	37	2	228118298	228118298	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228118298C>A	uc002vom.1	+	13	871	c.709C>A	c.(709-711)CCC>ACC	p.P237T	COL4A3_uc002von.1_Missense_Mutation_p.P237T|COL4A3_uc002voo.1_Missense_Mutation_p.P237T|COL4A3_uc002vop.1_Missense_Mutation_p.P237T|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	237	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)														---	---	---	---	capture		Missense_Mutation	SNP	228118298	228118298	3829	2	C	A	A	18	18	COL4A3	A	2	2
PSMD1	5707	broad.mit.edu	37	2	231943383	231943383	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231943383G>C	uc002vrn.1	+	10	1213	c.1082G>C	c.(1081-1083)CGG>CCG	p.R361P	PSMD1_uc002vrm.1_Missense_Mutation_p.R361P|PSMD1_uc010fxu.1_Missense_Mutation_p.R225P	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	361					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)													---	---	---	---	capture		Missense_Mutation	SNP	231943383	231943383	13145	2	G	C	C	39	39	PSMD1	C	3	3
SH3BP4	23677	broad.mit.edu	37	2	235950626	235950626	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:235950626C>A	uc002vvp.2	+	4	1606	c.1213C>A	c.(1213-1215)CTT>ATT	p.L405I	SH3BP4_uc010fym.2_Missense_Mutation_p.L405I|SH3BP4_uc002vvq.2_Missense_Mutation_p.L405I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	405					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	235950626	235950626	14737	2	C	A	A	24	24	SH3BP4	A	2	2
PSMF1	9491	broad.mit.edu	37	20	1108149	1108149	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1108149C>A	uc002wel.3	+	4	531	c.363C>A	c.(361-363)CAC>CAA	p.H121Q	PSMF1_uc010zpo.1_Missense_Mutation_p.H33Q|PSMF1_uc002wem.3_Missense_Mutation_p.H121Q|PSMF1_uc010zpp.1_Missense_Mutation_p.H121Q|PSMF1_uc002wen.3_Missense_Mutation_p.H121Q	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	121					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	proteasome core complex	endopeptidase inhibitor activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	1108149	1108149	13163	20	C	A	A	17	17	PSMF1	A	2	2
NSFL1C	55968	broad.mit.edu	37	20	1435711	1435711	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1435711G>T	uc002wfc.2	-	4	1293	c.345C>A	c.(343-345)CCC>CCA	p.P115P	NSFL1C_uc002wfd.2_Intron|NSFL1C_uc002wfe.2_Silent_p.P115P|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_5'Flank	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	115	Nuclear localization signal.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0																		---	---	---	---	capture		Silent	SNP	1435711	1435711	11077	20	G	T	T	47	47	NSFL1C	T	2	2
IDH3B	3420	broad.mit.edu	37	20	2640344	2640344	+	Splice_Site	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2640344C>T	uc002wgp.2	-	10	1019	c.1010_splice	c.e10+1	p.N337_splice	IDH3B_uc002wgq.2_Splice_Site_p.N337_splice|IDH3B_uc002wgr.2_Splice_Site_p.N185_splice	NM_006899	NP_008830			isocitrate dehydrogenase 3, beta subunit isoform						isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)													---	---	---	---	capture		Splice_Site	SNP	2640344	2640344	7797	20	C	T	T	20	20	IDH3B	T	5	2
VPS16	64601	broad.mit.edu	37	20	2840410	2840410	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2840410C>A	uc002whe.2	+	2	147	c.99C>A	c.(97-99)CTC>CTA	p.L33L	VPS16_uc002whf.2_Silent_p.L33L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	33					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	2840410	2840410	17760	20	C	A	A	29	29	VPS16	A	2	2
C20orf194	25943	broad.mit.edu	37	20	3305589	3305589	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3305589C>A	uc002wii.2	-	14	1266	c.1215G>T	c.(1213-1215)CTG>CTT	p.L405L	C20orf194_uc002wij.3_Silent_p.L144L|C20orf194_uc002wik.2_Silent_p.L79L|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	405											0																		---	---	---	---	capture		Silent	SNP	3305589	3305589	2177	20	C	A	A	21	21	C20orf194	A	2	2
DSTN	11034	broad.mit.edu	37	20	17581595	17581595	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17581595G>T	uc002wpr.2	+	2	471	c.216G>T	c.(214-216)GTG>GTT	p.V72V	DSTN_uc002wpq.2_Silent_p.V55V|DSTN_uc010gck.2_Silent_p.V55V	NM_006870	NP_006861	P60981	DEST_HUMAN	destrin isoform a	72	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			large_intestine(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	17581595	17581595	4968	20	G	T	T	47	47	DSTN	T	2	2
RIN2	54453	broad.mit.edu	37	20	19956212	19956212	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19956212G>T	uc002wro.1	+	7	1579	c.1543G>T	c.(1543-1545)GTC>TTC	p.V515F	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.V309F	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	515					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	19956212	19956212	13849	20	G	T	T	44	44	RIN2	T	2	2
CRNKL1	51340	broad.mit.edu	37	20	20017981	20017981	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20017981G>T	uc002wrs.2	-	14	2397	c.2365C>A	c.(2365-2367)CAG>AAG	p.Q789K		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	789	HAT 16.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	20017981	20017981	4030	20	G	T	T	47	47	CRNKL1	T	2	2
TMEM90B	79953	broad.mit.edu	37	20	24523790	24523790	+	Silent	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24523790T>C	uc002wtw.1	+	2	690	c.57T>C	c.(55-57)GCT>GCC	p.A19A		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	19	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0																		---	---	---	---	capture		Silent	SNP	24523790	24523790	16759	20	T	C	C	55	55	TMEM90B	C	4	4
ZNF337	26152	broad.mit.edu	37	20	25657102	25657102	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25657102G>T	uc002wva.2	-	4	1344	c.822C>A	c.(820-822)ACC>ACA	p.T274T	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.T242T|ZNF337_uc002wvb.2_Silent_p.T274T|ZNF337_uc002wvc.2_Silent_p.T274T	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	274	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	25657102	25657102	18445	20	G	T	T	47	47	ZNF337	T	2	2
HM13	81502	broad.mit.edu	37	20	30137109	30137109	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30137109G>T	uc002wwe.2	+	6	754	c.640G>T	c.(640-642)GGA>TGA	p.G214*	HM13_uc002wwc.2_Nonsense_Mutation_p.G214*|HM13_uc002wwd.2_Nonsense_Mutation_p.G214*|HM13_uc002wwf.2_Nonsense_Mutation_p.G90*|HM13_uc010gdu.2_Nonsense_Mutation_p.G90*	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	214	Helical; (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)															---	---	---	---	capture		Nonsense_Mutation	SNP	30137109	30137109	7508	20	G	T	T	39	39	HM13	T	5	1
EDEM2	55741	broad.mit.edu	37	20	33703284	33703284	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33703284G>T	uc002xbo.2	-	11	1789	c.1689C>A	c.(1687-1689)TTC>TTA	p.F563L	EDEM2_uc010zus.1_Missense_Mutation_p.F342L|EDEM2_uc002xbq.2_Missense_Mutation_p.F526L|EDEM2_uc010zut.1_Missense_Mutation_p.F522L|EDEM2_uc002xbp.2_Missense_Mutation_p.F411L|EDEM2_uc002xbn.2_Missense_Mutation_p.F411L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.F287L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	563					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---	capture		Missense_Mutation	SNP	33703284	33703284	5099	20	G	T	T	45	45	EDEM2	T	2	2
UQCC	55245	broad.mit.edu	37	20	33999756	33999756	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33999756A>G	uc002xcd.2	-	1	78	c.11T>C	c.(10-12)CTG>CCG	p.L4P	UQCC_uc010zuz.1_5'UTR|UQCC_uc010zva.1_Missense_Mutation_p.L4P|UQCC_uc002xce.2_Missense_Mutation_p.L4P|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.L4P|UQCC_uc010zvb.1_Missense_Mutation_p.L4P|UQCC_uc002xcf.2_5'UTR|GDF5_uc010gfc.1_Intron|UQCC_uc010gfd.1_5'UTR	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	4						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---	capture		Missense_Mutation	SNP	33999756	33999756	17576	20	A	G	G	7	7	UQCC	G	4	4
PLCG1	5335	broad.mit.edu	37	20	39788562	39788562	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39788562G>T	uc002xjp.1	+	3	544	c.423G>T	c.(421-423)ATG>ATT	p.M141I	PLCG1_uc002xjo.1_Missense_Mutation_p.M141I	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	141	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	39788562	39788562	12461	20	G	T	T	47	47	PLCG1	T	2	2
PTPRT	11122	broad.mit.edu	37	20	40733286	40733286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40733286C>A	uc002xkg.2	-	25	3647	c.3463G>T	c.(3463-3465)GAG>TAG	p.E1155*	PTPRT_uc010ggj.2_Nonsense_Mutation_p.E1174*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.E358*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1155	Cytoplasmic (Potential).				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	40733286	40733286	13270	20	C	A	A	29	29	PTPRT	A	5	2
MMP9	4318	broad.mit.edu	37	20	44641162	44641162	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44641162G>T	uc002xqz.2	+	8	1290	c.1271G>T	c.(1270-1272)CGC>CTC	p.R424L		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	424					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	44641162	44641162	10060	20	G	T	T	38	38	MMP9	T	1	1
NCOA3	8202	broad.mit.edu	37	20	46268381	46268381	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46268381C>A	uc002xtk.2	+	15	2973	c.2768C>A	c.(2767-2769)CCA>CAA	p.P923Q	NCOA3_uc010ght.1_Missense_Mutation_p.P918Q|NCOA3_uc002xtl.2_Missense_Mutation_p.P923Q|NCOA3_uc002xtm.2_Missense_Mutation_p.P923Q|NCOA3_uc002xtn.2_Missense_Mutation_p.P923Q|NCOA3_uc010zyc.1_Missense_Mutation_p.P718Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	923					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	46268381	46268381	10629	20	C	A	A	21	21	NCOA3	A	2	2
STAU1	6780	broad.mit.edu	37	20	47782640	47782640	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47782640C>A	uc002xud.2	-	3	510	c.99G>T	c.(97-99)ATG>ATT	p.M33I	STAU1_uc002xua.2_Intron|STAU1_uc002xub.2_Intron|STAU1_uc002xuc.2_Intron|STAU1_uc002xue.2_Intron|STAU1_uc002xuf.2_Intron|STAU1_uc002xug.2_Missense_Mutation_p.M33I	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	33						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	47782640	47782640	15792	20	C	A	A	29	29	STAU1	A	2	2
SLC9A8	23315	broad.mit.edu	37	20	48500519	48500519	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48500519C>A	uc002xuv.1	+	14	1617	c.1407C>A	c.(1405-1407)CCC>CCA	p.P469P	SLC9A8_uc010zym.1_Silent_p.P169P|SLC9A8_uc010gic.2_Silent_p.P169P|SLC9A8_uc010gid.2_Silent_p.P93P	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	469	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)															---	---	---	---	capture		Silent	SNP	48500519	48500519	15217	20	C	A	A	22	22	SLC9A8	A	2	2
BCAS1	8537	broad.mit.edu	37	20	52645048	52645048	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52645048C>G	uc002xws.2	-	4	944	c.606G>C	c.(604-606)AAG>AAC	p.K202N	BCAS1_uc010zzb.1_Missense_Mutation_p.K105N|BCAS1_uc010gim.2_Missense_Mutation_p.K105N|BCAS1_uc002xwt.2_Missense_Mutation_p.K202N|BCAS1_uc010gil.1_Missense_Mutation_p.K202N|BCAS1_uc010zzc.1_Missense_Mutation_p.K105N	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	202						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	52645048	52645048	1371	20	C	G	G	24	24	BCAS1	G	3	3
DIDO1	11083	broad.mit.edu	37	20	61511697	61511697	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61511697C>T	uc002ydr.1	-	16	5875	c.5611G>A	c.(5611-5613)GAA>AAA	p.E1871K	DIDO1_uc002yds.1_Missense_Mutation_p.E1871K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1871	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	61511697	61511697	4701	20	C	T	T	29	29	DIDO1	T	2	2
TMPRSS15	5651	broad.mit.edu	37	21	19716354	19716354	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:19716354C>A	uc002ykw.2	-	11	1226	c.1195G>T	c.(1195-1197)GGA>TGA	p.G399*		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	399	Extracellular (Potential).|MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8																		---	---	---	---	capture		Nonsense_Mutation	SNP	19716354	19716354	16787	21	C	A	A	21	21	TMPRSS15	A	5	2
TIAM1	7074	broad.mit.edu	37	21	32617825	32617825	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32617825C>A	uc002yow.1	-	7	2035	c.1563G>T	c.(1561-1563)CTG>CTT	p.L521L	TIAM1_uc011adk.1_Silent_p.L521L|TIAM1_uc011adl.1_Silent_p.L521L|TIAM1_uc002yox.1_Silent_p.L129L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	521	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---	capture		Silent	SNP	32617825	32617825	16418	21	C	A	A	21	21	TIAM1	A	2	2
SFRS15	57466	broad.mit.edu	37	21	33068523	33068523	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33068523C>A	uc002ypd.2	-	9	1397	c.971G>T	c.(970-972)GGA>GTA	p.G324V	SFRS15_uc002ype.2_Missense_Mutation_p.G324V|SFRS15_uc010glu.2_Missense_Mutation_p.G309V|SFRS15_uc002ypf.1_5'UTR	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	324						nucleus	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	33068523	33068523	14661	21	C	A	A	30	30	SFRS15	A	2	2
GCFC1	94104	broad.mit.edu	37	21	34132155	34132155	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34132155A>C	uc002yqn.2	-	6	1316	c.1126T>G	c.(1126-1128)TTC>GTC	p.F376V	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F376V|GCFC1_uc002yqr.2_Missense_Mutation_p.F376V	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	376						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	34132155	34132155	6555	21	A	C	C	1	1	GCFC1	C	4	4
IFNAR2	3455	broad.mit.edu	37	21	34635709	34635709	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34635709C>A	uc002yrd.2	+	9	1780	c.1452C>A	c.(1450-1452)CCC>CCA	p.P484P	IFNAR2_uc002yre.2_Silent_p.P484P|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron|IL10RB_uc002yrk.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	484	Cytoplasmic (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---	capture		Silent	SNP	34635709	34635709	7846	21	C	A	A	24	24	IFNAR2	A	2	2
DOPEY2	9980	broad.mit.edu	37	21	37618164	37618164	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37618164G>T	uc002yvg.2	+	19	3965	c.3886G>T	c.(3886-3888)GGA>TGA	p.G1296*	DOPEY2_uc011aeb.1_Nonsense_Mutation_p.G1245*|DOPEY2_uc002yvh.2_Nonsense_Mutation_p.G147*	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1296					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	37618164	37618164	4892	21	G	T	T	39	39	DOPEY2	T	5	1
CHAF1B	8208	broad.mit.edu	37	21	37775112	37775112	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37775112G>T	uc002yvj.2	+	8	858	c.720G>T	c.(718-720)CTG>CTT	p.L240L		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	240	WD 5.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	37775112	37775112	3446	21	G	T	T	45	45	CHAF1B	T	2	2
PCP4	5121	broad.mit.edu	37	21	41301006	41301006	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41301006C>A	uc002yyp.2	+	3	240	c.159C>A	c.(157-159)TTC>TTA	p.F53L		NM_006198	NP_006189	P48539	PCP4_HUMAN	Purkinje cell protein 4	53	IQ.				central nervous system development	cytosol|nucleus				large_intestine(1)	1		Prostate(19;2.65e-06)|all_epithelial(19;0.138)																---	---	---	---	capture		Missense_Mutation	SNP	41301006	41301006	12018	21	C	A	A	30	30	PCP4	A	2	2
PDXK	8566	broad.mit.edu	37	21	45161591	45161591	+	Silent	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45161591C>G	uc002zdm.3	+	3	384	c.186C>G	c.(184-186)CTC>CTG	p.L62L	PDXK_uc010gpj.2_Silent_p.L62L|PDXK_uc002zdn.3_Silent_p.L62L|PDXK_uc002zdq.3_5'UTR	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	62					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)													---	---	---	---	capture		Silent	SNP	45161591	45161591	12118	21	C	G	G	30	30	PDXK	G	3	3
COL6A2	1292	broad.mit.edu	37	21	47531483	47531483	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47531483C>A	uc002zia.1	+	2	175	c.93C>A	c.(91-93)ACC>ACA	p.T31T	COL6A2_uc002zhy.1_Silent_p.T31T|COL6A2_uc002zhz.1_Silent_p.T31T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	31	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---	capture		Silent	SNP	47531483	47531483	3838	21	C	A	A	23	23	COL6A2	A	1	1
CRKL	1399	broad.mit.edu	37	22	21288203	21288203	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21288203C>T	uc002ztf.2	+	2	957	c.448C>T	c.(448-450)CTA>TTA	p.L150L	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	150	SH3 1.				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		Silent	SNP	21288203	21288203	4024	22	C	T	T	24	24	CRKL	T	2	2
UPB1	51733	broad.mit.edu	37	22	24909327	24909327	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24909327C>A	uc003aaf.2	+	5	616	c.495C>A	c.(493-495)CCC>CCA	p.P165P	UPB1_uc003aae.2_Silent_p.P97P|UPB1_uc011ajt.1_Silent_p.P165P	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	165	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)																	---	---	---	---	capture		Silent	SNP	24909327	24909327	17561	22	C	A	A	21	21	UPB1	A	2	2
MTMR3	8897	broad.mit.edu	37	22	30416160	30416160	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30416160A>G	uc003agv.3	+	17	2840	c.2512A>G	c.(2512-2514)AGA>GGA	p.R838G	MTMR3_uc003agu.3_Missense_Mutation_p.R838G|MTMR3_uc003agw.3_Missense_Mutation_p.R838G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	838					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)															---	---	---	---	capture		Missense_Mutation	SNP	30416160	30416160	10338	22	A	G	G	7	7	MTMR3	G	4	4
PATZ1	23598	broad.mit.edu	37	22	31723139	31723139	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31723139C>A	uc003akq.2	-	5	2463	c.1802G>T	c.(1801-1803)GGG>GTG	p.G601V	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.G555V	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	601					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	31723139	31723139	11896	22	C	A	A	22	22	PATZ1	A	2	2
HMGXB4	10042	broad.mit.edu	37	22	35660936	35660936	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35660936G>T	uc003anl.2	+	5	729	c.555G>T	c.(553-555)CGG>CGT	p.R185R	HMGXB4_uc011amh.1_Silent_p.R76R|HMGXB4_uc003ank.2_Silent_p.R76R	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	185					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	35660936	35660936	7531	22	G	T	T	43	43	HMGXB4	T	2	2
MYH9	4627	broad.mit.edu	37	22	36696899	36696899	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36696899G>T	uc003apg.2	-	22	3067	c.2836C>A	c.(2836-2838)CAG>AAG	p.Q946K	MYH9_uc003aph.1_Missense_Mutation_p.Q810K	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	946	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---	capture		Missense_Mutation	SNP	36696899	36696899	10437	22	G	T	T	47	47	MYH9	T	2	2
NCF4	4689	broad.mit.edu	37	22	37260122	37260122	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37260122C>A	uc003apy.3	+	2	252	c.68C>A	c.(67-69)TCG>TAG	p.S23*	NCF4_uc003apz.3_Nonsense_Mutation_p.S23*	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	23	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	37260122	37260122	10617	22	C	A	A	31	31	NCF4	A	5	1
KDELR3	11015	broad.mit.edu	37	22	38875707	38875707	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38875707C>A	uc003avv.2	+	3	458	c.302C>A	c.(301-303)CCA>CAA	p.P101Q	KDELR3_uc003avu.2_Missense_Mutation_p.P101Q	NM_006855	NP_006846	O43731	ERD23_HUMAN	KDEL receptor 3 isoform a	101	Helical; (Potential).				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			ovary(2)	2	Melanoma(58;0.0286)																	---	---	---	---	capture		Missense_Mutation	SNP	38875707	38875707	8427	22	C	A	A	21	21	KDELR3	A	2	2
PARVB	29780	broad.mit.edu	37	22	44395452	44395452	+	Missense_Mutation	SNP	G	T	T	rs146032859	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44395452G>T	uc003bem.2	+	2	158	c.110G>T	c.(109-111)TGG>TTG	p.W37L		NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	parvin, beta isoform a	Error:Variant_position_missing_in_Q9HBI1_after_alignment					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)																---	---	---	---	capture		Missense_Mutation	SNP	44395452	44395452	11886	22	G	T	T	47	47	PARVB	T	2	2
UPK3A	7380	broad.mit.edu	37	22	45691481	45691481	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45691481C>A	uc003bfy.2	+	6	751	c.745C>A	c.(745-747)CAA>AAA	p.Q249K	UPK3A_uc010gzy.2_Missense_Mutation_p.Q128K	NM_006953	NP_008884	O75631	UPK3A_HUMAN	uroplakin 3A precursor	249	Cytoplasmic (Potential).				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---	capture		Missense_Mutation	SNP	45691481	45691481	17570	22	C	A	A	21	21	UPK3A	A	2	2
ZBED4	9889	broad.mit.edu	37	22	50278129	50278129	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50278129G>C	uc003bix.2	+	2	1289	c.819G>C	c.(817-819)AAG>AAC	p.K273N		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	273						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	50278129	50278129	18104	22	G	C	C	33	33	ZBED4	C	3	3
ZBED4	9889	broad.mit.edu	37	22	50280646	50280646	+	Silent	SNP	G	T	T	rs146642192	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50280646G>T	uc003bix.2	+	2	3806	c.3336G>T	c.(3334-3336)CCG>CCT	p.P1112P		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1112						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Silent	SNP	50280646	50280646	18104	22	G	T	T	39	39	ZBED4	T	1	1
MOV10L1	54456	broad.mit.edu	37	22	50584154	50584154	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50584154G>T	uc003bjj.2	+	19	2625	c.2542G>T	c.(2542-2544)GGA>TGA	p.G848*	MOV10L1_uc003bjk.3_Nonsense_Mutation_p.G848*|MOV10L1_uc011arp.1_Nonsense_Mutation_p.G828*|MOV10L1_uc003bjl.2_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	848					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---	capture		Nonsense_Mutation	SNP	50584154	50584154	10111	22	G	T	T	39	39	MOV10L1	T	5	1
LMF2	91289	broad.mit.edu	37	22	50944110	50944110	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50944110C>A	uc003blp.2	-	6	940	c.909G>T	c.(907-909)ACG>ACT	p.T303T	LMF2_uc010hba.2_Silent_p.T125T|LMF2_uc003blo.2_Silent_p.T278T|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Silent	SNP	50944110	50944110	9175	22	C	A	A	23	23	LMF2	A	1	1
CHL1	10752	broad.mit.edu	37	3	447294	447294	+	Missense_Mutation	SNP	G	A	A	rs141163165		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:447294G>A	uc003bou.2	+	27	3798	c.3527G>A	c.(3526-3528)AGT>AAT	p.S1176N	CHL1_uc003bot.2_Missense_Mutation_p.S1192N|CHL1_uc011asi.1_Missense_Mutation_p.S1139N	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1176	Cytoplasmic (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)														---	---	---	---	capture		Missense_Mutation	SNP	447294	447294	3483	3	G	A	A	36	36	CHL1	A	2	2
CNTN6	27255	broad.mit.edu	37	3	1425083	1425083	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1425083G>T	uc003boz.2	+	19	2775	c.2508G>T	c.(2506-2508)CTG>CTT	p.L836L	CNTN6_uc011asj.1_Silent_p.L764L|CNTN6_uc003bpa.2_Silent_p.L836L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	836	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---	capture		Silent	SNP	1425083	1425083	3783	3	G	T	T	47	47	CNTN6	T	2	2
GRM7	2917	broad.mit.edu	37	3	7188172	7188172	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:7188172G>T	uc003bqm.2	+	2	827	c.553G>T	c.(553-555)GAG>TAG	p.E185*	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Nonsense_Mutation_p.E185*|GRM7_uc003bql.2_Nonsense_Mutation_p.E185*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	185	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Nonsense_Mutation	SNP	7188172	7188172	7081	3	G	T	T	37	37	GRM7	T	5	1
ATG7	10533	broad.mit.edu	37	3	11389435	11389435	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11389435G>T	uc003bwc.2	+	12	1327	c.1210G>T	c.(1210-1212)GAA>TAA	p.E404*	ATG7_uc003bwd.2_Nonsense_Mutation_p.E404*|ATG7_uc011aum.1_Nonsense_Mutation_p.E365*	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	404					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	11389435	11389435	1120	3	G	T	T	45	45	ATG7	T	5	2
XPC	7508	broad.mit.edu	37	3	14211999	14211999	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14211999G>T	uc011ave.1	-	3	455	c.351C>A	c.(349-351)ACC>ACA	p.T117T	XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Silent_p.T117T	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	117	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3								Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				---	---	---	---	capture		Silent	SNP	14211999	14211999	18024	3	G	T	T	47	47	XPC	T	2	2
FGD5	152273	broad.mit.edu	37	3	14974123	14974123	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14974123A>T	uc003bzc.2	+	19	4347	c.4237A>T	c.(4237-4239)ACC>TCC	p.T1413S	FGD5_uc011avk.1_Missense_Mutation_p.T1370S|FGD5_uc003bzd.2_Missense_Mutation_p.T491S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1413	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	14974123	14974123	6073	3	A	T	T	6	6	FGD5	T	4	4
HACL1	26061	broad.mit.edu	37	3	15631071	15631071	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15631071C>A	uc003caf.2	-	5	517	c.357G>T	c.(355-357)ATG>ATT	p.M119I	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M92I|HACL1_uc011avt.1_Missense_Mutation_p.M119I|HACL1_uc003cag.2_Intron|HACL1_uc011avu.1_Intron|HACL1_uc010hep.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	119					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15631071	15631071	7223	3	C	A	A	21	21	HACL1	A	2	2
OXNAD1	92106	broad.mit.edu	37	3	16327883	16327883	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16327883G>T	uc003caw.2	+	5	675	c.218G>T	c.(217-219)AGT>ATT	p.S73I	OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Missense_Mutation_p.S73I|OXNAD1_uc011awb.1_Missense_Mutation_p.S91I	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	73	FAD-binding FR-type.						oxidoreductase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	16327883	16327883	11746	3	G	T	T	36	36	OXNAD1	T	2	2
TBC1D5	9779	broad.mit.edu	37	3	17418096	17418096	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17418096C>A	uc003cbf.2	-	10	2287	c.622G>T	c.(622-624)GAA>TAA	p.E208*	TBC1D5_uc010hev.2_Nonsense_Mutation_p.E208*|TBC1D5_uc003cbe.2_Nonsense_Mutation_p.E208*|TBC1D5_uc010hew.1_Nonsense_Mutation_p.E160*	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	208	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	17418096	17418096	16149	3	C	A	A	31	31	TBC1D5	A	5	1
SATB1	6304	broad.mit.edu	37	3	18393544	18393544	+	Silent	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:18393544C>G	uc003cbh.2	-	10	3454	c.1719G>C	c.(1717-1719)GCG>GCC	p.A573A	SATB1_uc003cbi.2_Silent_p.A573A|SATB1_uc003cbj.2_Silent_p.A573A	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	573					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---	capture		Silent	SNP	18393544	18393544	14334	3	C	G	G	23	23	SATB1	G	3	3
TRANK1	9881	broad.mit.edu	37	3	36872688	36872688	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36872688C>A	uc003cgj.2	-	12	6906	c.6604G>T	c.(6604-6606)GAG>TAG	p.E2202*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2752					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	36872688	36872688	16998	3	C	A	A	31	31	TRANK1	A	5	1
SCN10A	6336	broad.mit.edu	37	3	38798188	38798188	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38798188C>A	uc003ciq.2	-	9	1267	c.1267G>T	c.(1267-1269)GAG>TAG	p.E423*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	423					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)													---	---	---	---	capture		Nonsense_Mutation	SNP	38798188	38798188	14394	3	C	A	A	31	31	SCN10A	A	5	1
GORASP1	64689	broad.mit.edu	37	3	39141908	39141908	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39141908G>A	uc003ciw.1	-	6	751	c.653C>T	c.(652-654)CCA>CTA	p.P218L	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Missense_Mutation_p.P123L|GORASP1_uc003ciz.1_Missense_Mutation_p.P63L	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	218	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)														---	---	---	---	capture		Missense_Mutation	SNP	39141908	39141908	6848	3	G	A	A	47	47	GORASP1	A	2	2
LARS2	23395	broad.mit.edu	37	3	45441840	45441840	+	Missense_Mutation	SNP	G	T	T	rs138437422		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45441840G>T	uc003cop.1	+	4	523	c.338G>T	c.(337-339)CGG>CTG	p.R113L	LARS2_uc010hit.1_Intron	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	113					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)													---	---	---	---	capture		Missense_Mutation	SNP	45441840	45441840	8958	3	G	T	T	39	39	LARS2	T	1	1
COL7A1	1294	broad.mit.edu	37	3	48614120	48614120	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48614120G>T	uc003ctz.2	-	67	5690	c.5689C>A	c.(5689-5691)CCT>ACT	p.P1897T		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1897	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---	capture		Missense_Mutation	SNP	48614120	48614120	3842	3	G	T	T	43	43	COL7A1	T	2	2
KLHDC8B	200942	broad.mit.edu	37	3	49210407	49210407	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49210407C>A	uc003cwh.2	+	2	390	c.205C>A	c.(205-207)CGG>AGG	p.R69R	KLHDC8B_uc003cwi.1_5'Flank	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	69	Kelch 2.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---	capture		Silent	SNP	49210407	49210407	8675	3	C	A	A	23	23	KLHDC8B	A	1	1
APEH	327	broad.mit.edu	37	3	49719381	49719381	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49719381G>T	uc003cxf.2	+	17	1984	c.1584G>T	c.(1582-1584)ATG>ATT	p.M528I	APEH_uc010hkw.1_Missense_Mutation_p.M528I	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	528					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---	capture		Missense_Mutation	SNP	49719381	49719381	778	3	G	T	T	47	47	APEH	T	2	2
PBRM1	55193	broad.mit.edu	37	3	52621494	52621494	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52621494G>C	uc003des.2	-	19	3010	c.2998C>G	c.(2998-3000)CGA>GGA	p.R1000G	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1000G|PBRM1_uc003der.2_Missense_Mutation_p.R968G|PBRM1_uc003det.2_Missense_Mutation_p.R1015G|PBRM1_uc003deu.2_Missense_Mutation_p.R1015G|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1000G|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Missense_Mutation_p.R999G|PBRM1_uc003dfb.1_Missense_Mutation_p.R912G|PBRM1_uc003dfa.1_Missense_Mutation_p.R346G	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1000	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---	capture		Missense_Mutation	SNP	52621494	52621494	11911	3	G	C	C	39	39	PBRM1	C	3	3
SFMBT1	51460	broad.mit.edu	37	3	52941189	52941189	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52941189G>T	uc003dgf.2	-	20	2796	c.2227C>A	c.(2227-2229)CAA>AAA	p.Q743K	SFMBT1_uc010hmr.2_Missense_Mutation_p.Q690K|SFMBT1_uc003dgg.2_Missense_Mutation_p.Q743K|SFMBT1_uc003dgh.2_Missense_Mutation_p.Q743K	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	743					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---	capture		Missense_Mutation	SNP	52941189	52941189	14646	3	G	T	T	47	47	SFMBT1	T	2	2
CHDH	55349	broad.mit.edu	37	3	53854550	53854550	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53854550C>A	uc003dgz.2	-	6	1511	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	357					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)													---	---	---	---	capture		Missense_Mutation	SNP	53854550	53854550	3467	3	C	A	A	28	28	CHDH	A	2	2
CHDH	55349	broad.mit.edu	37	3	53855702	53855702	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53855702C>A	uc003dgz.2	-	5	1397	c.957G>T	c.(955-957)CTG>CTT	p.L319L		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	319					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)													---	---	---	---	capture		Silent	SNP	53855702	53855702	3467	3	C	A	A	21	21	CHDH	A	2	2
WNT5A	7474	broad.mit.edu	37	3	55513572	55513572	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:55513572G>T	uc003dhn.2	-	3	479	c.161C>A	c.(160-162)CCT>CAT	p.P54H	WNT5A_uc003dhm.2_Missense_Mutation_p.P39H|WNT5A_uc010hmw.2_Missense_Mutation_p.P39H|WNT5A_uc010hmx.2_Intron	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	54					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)														---	---	---	---	capture		Missense_Mutation	SNP	55513572	55513572	17965	3	G	T	T	35	35	WNT5A	T	2	2
OR5H6	79295	broad.mit.edu	37	3	97983199	97983199	+	Nonsense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97983199T>A	uc003dsi.1	+	1	71	c.71T>A	c.(70-72)TTG>TAG	p.L24*		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	97983199	97983199	11573	3	T	A	A	63	63	OR5H6	A	5	4
DCBLD2	131566	broad.mit.edu	37	3	98538223	98538223	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98538223C>A	uc003dtd.2	-	8	1273	c.910G>T	c.(910-912)GCG>TCG	p.A304S	DCBLD2_uc003dte.2_Missense_Mutation_p.A304S	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	304	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	98538223	98538223	4452	3	C	A	A	27	27	DCBLD2	A	1	1
COL8A1	1295	broad.mit.edu	37	3	99514646	99514646	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99514646A>C	uc003dtg.1	+	5	2146	c.1901A>C	c.(1900-1902)AAG>ACG	p.K634T	COL8A1_uc003dth.1_Missense_Mutation_p.K634T|COL8A1_uc003dti.1_Missense_Mutation_p.K635T	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	634	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0																		---	---	---	---	capture		Missense_Mutation	SNP	99514646	99514646	3843	3	A	C	C	3	3	COL8A1	C	4	4
FILIP1L	11259	broad.mit.edu	37	3	99567825	99567825	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99567825C>A	uc003dtm.2	-	5	3158	c.2695G>T	c.(2695-2697)GGG>TGG	p.G899W	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.G899W|FILIP1L_uc010hpf.2_Missense_Mutation_p.G475W|FILIP1L_uc010hpg.2_Missense_Mutation_p.G659W|FILIP1L_uc003dtn.2_Missense_Mutation_p.G659W|FILIP1L_uc003dtp.1_Missense_Mutation_p.G659W	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	899						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	99567825	99567825	6133	3	C	A	A	21	21	FILIP1L	A	2	2
TOMM70A	9868	broad.mit.edu	37	3	100105095	100105095	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100105095C>T	uc003dtw.2	-	3	1024	c.592G>A	c.(592-594)GAG>AAG	p.E198K		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	198	Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	100105095	100105095	16904	3	C	T	T	29	29	TOMM70A	T	2	2
ABI3BP	25890	broad.mit.edu	37	3	100471739	100471739	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100471739C>A	uc003dun.2	-	33	2966	c.2881G>T	c.(2881-2883)GAG>TAG	p.E961*	ABI3BP_uc003duj.2_Nonsense_Mutation_p.E541*|ABI3BP_uc003duk.2_Nonsense_Mutation_p.E670*|ABI3BP_uc003dul.2_Nonsense_Mutation_p.E791*|ABI3BP_uc011bhd.1_Nonsense_Mutation_p.E915*|ABI3BP_uc003dum.2_Nonsense_Mutation_p.E372*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	961						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	100471739	100471739	92	3	C	A	A	32	32	ABI3BP	A	5	2
SENP7	57337	broad.mit.edu	37	3	101051624	101051624	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101051624C>A	uc003dut.2	-	18	2674	c.2563G>T	c.(2563-2565)GTA>TTA	p.V855L	SENP7_uc003duu.2_Missense_Mutation_p.V790L|SENP7_uc003duv.2_Missense_Mutation_p.V822L|SENP7_uc003duw.2_Missense_Mutation_p.V789L|SENP7_uc003dux.2_Missense_Mutation_p.V691L|SENP7_uc003dus.2_Missense_Mutation_p.V43L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	855	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	101051624	101051624	14537	3	C	A	A	17	17	SENP7	A	2	2
RG9MTD1	54931	broad.mit.edu	37	3	101283646	101283646	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101283646G>T	uc003duz.2	+	2	169	c.21G>T	c.(19-21)ATG>ATT	p.M7I		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	7					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	101283646	101283646	13744	3	G	T	T	45	45	RG9MTD1	T	2	2
NFKBIZ	64332	broad.mit.edu	37	3	101576002	101576002	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101576002G>T	uc003dvp.2	+	10	2025	c.1910G>T	c.(1909-1911)AGT>ATT	p.S637I	NFKBIZ_uc003dvo.2_Missense_Mutation_p.S537I|NFKBIZ_uc010hpo.2_Missense_Mutation_p.S537I|NFKBIZ_uc003dvq.2_Missense_Mutation_p.S515I	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	637	Interaction with NFKB1/p50 (By similarity).|ANK 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	101576002	101576002	10783	3	G	T	T	36	36	NFKBIZ	T	2	2
CCDC54	84692	broad.mit.edu	37	3	107097232	107097232	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107097232C>A	uc003dwi.1	+	1	1045	c.798C>A	c.(796-798)ACC>ACA	p.T266T		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	266											0																		---	---	---	---	capture		Silent	SNP	107097232	107097232	2947	3	C	A	A	21	21	CCDC54	A	2	2
DPPA4	55211	broad.mit.edu	37	3	109049533	109049533	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109049533C>G	uc003dxq.3	-	5	572	c.517G>C	c.(517-519)GTG>CTG	p.V173L	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.V173L	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	173						nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	109049533	109049533	4920	3	C	G	G	17	17	DPPA4	G	3	3
TMPRSS7	344805	broad.mit.edu	37	3	111768698	111768698	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111768698G>T	uc010hqb.2	+	6	759	c.589G>T	c.(589-591)GAA>TAA	p.E197*	TMPRSS7_uc011bhr.1_Nonsense_Mutation_p.E52*	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	323	Extracellular (Potential).|CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	111768698	111768698	16793	3	G	T	T	45	45	TMPRSS7	T	5	2
SLC9A10	285335	broad.mit.edu	37	3	111927116	111927116	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111927116C>A	uc003dyu.2	-	16	2117	c.1895G>T	c.(1894-1896)TGG>TTG	p.W632L	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.W584L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	632	Helical; (Potential).|Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	111927116	111927116	15207	3	C	A	A	21	21	SLC9A10	A	2	2
KIAA2018	205717	broad.mit.edu	37	3	113375029	113375029	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113375029C>A	uc003eam.2	-	7	5911	c.5500G>T	c.(5500-5502)GGG>TGG	p.G1834W	KIAA2018_uc003eal.2_Missense_Mutation_p.G1778W	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1834					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	113375029	113375029	8579	3	C	A	A	21	21	KIAA2018	A	2	2
GRAMD1C	54762	broad.mit.edu	37	3	113595041	113595041	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113595041C>T	uc003eaq.3	+	5	469	c.393C>T	c.(391-393)TTC>TTT	p.F131F	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	131	GRAM.					integral to membrane				ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	113595041	113595041	7025	3	C	T	T	29	29	GRAMD1C	T	2	2
GRAMD1C	54762	broad.mit.edu	37	3	113623041	113623041	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113623041C>A	uc003eaq.3	+	8	787	c.711C>A	c.(709-711)TCC>TCA	p.S237S	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron|GRAMD1C_uc003ear.2_Silent_p.S70S|GRAMD1C_uc003eas.2_Silent_p.S32S	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	237						integral to membrane				ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	113623041	113623041	7025	3	C	A	A	21	21	GRAMD1C	A	2	2
KIAA1407	57577	broad.mit.edu	37	3	113697729	113697729	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113697729C>A	uc003eax.2	-	15	2583	c.2436G>T	c.(2434-2436)AAG>AAT	p.K812N	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	812										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	113697729	113697729	8538	3	C	A	A	32	32	KIAA1407	A	2	2
UPK1B	7348	broad.mit.edu	37	3	118906747	118906747	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118906747G>T	uc003ecc.2	+	3	284	c.195G>T	c.(193-195)GTG>GTT	p.V65V	UPK1B_uc011bix.1_5'UTR|UPK1B_uc003ecd.2_Silent_p.V65V	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	65	Helical; (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)														---	---	---	---	capture		Silent	SNP	118906747	118906747	17568	3	G	T	T	47	47	UPK1B	T	2	2
POLQ	10721	broad.mit.edu	37	3	121192307	121192307	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121192307G>T	uc003eee.3	-	21	6562	c.6433C>A	c.(6433-6435)CCA>ACA	p.P2145T	POLQ_uc003eed.2_Missense_Mutation_p.P1317T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2145					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121192307	121192307	12636	3	G	T	T	43	43	POLQ	T	2	2
POLQ	10721	broad.mit.edu	37	3	121207700	121207700	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121207700G>T	uc003eee.3	-	16	4207	c.4078C>A	c.(4078-4080)CAA>AAA	p.Q1360K	POLQ_uc003eed.2_Missense_Mutation_p.Q532K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1360					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121207700	121207700	12636	3	G	T	T	47	47	POLQ	T	2	2
POLQ	10721	broad.mit.edu	37	3	121208219	121208219	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121208219G>T	uc003eee.3	-	16	3688	c.3559C>A	c.(3559-3561)CAT>AAT	p.H1187N	POLQ_uc003eed.2_Missense_Mutation_p.H359N	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1187					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121208219	121208219	12636	3	G	T	T	47	47	POLQ	T	2	2
GOLGB1	2804	broad.mit.edu	37	3	121410244	121410244	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121410244G>T	uc003eei.3	-	14	8078	c.7952C>A	c.(7951-7953)TCT>TAT	p.S2651Y	GOLGB1_uc010hrc.2_Missense_Mutation_p.S2656Y|GOLGB1_uc003eej.3_Missense_Mutation_p.S2617Y	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2651	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---	capture		Missense_Mutation	SNP	121410244	121410244	6838	3	G	T	T	33	33	GOLGB1	T	2	2
GOLGB1	2804	broad.mit.edu	37	3	121413513	121413513	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121413513G>T	uc003eei.3	-	13	5968	c.5842C>A	c.(5842-5844)CAA>AAA	p.Q1948K	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q1953K|GOLGB1_uc003eej.3_Missense_Mutation_p.Q1914K|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q1834K|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q1912K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1948	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---	capture		Missense_Mutation	SNP	121413513	121413513	6838	3	G	T	T	47	47	GOLGB1	T	2	2
CCDC14	64770	broad.mit.edu	37	3	123665977	123665977	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123665977C>A	uc011bjx.1	-	8	1109	c.1018G>T	c.(1018-1020)GGA>TGA	p.G340*	CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Nonsense_Mutation_p.G140*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.G299*|CCDC14_uc003egy.3_Nonsense_Mutation_p.G140*|CCDC14_uc003egz.2_Nonsense_Mutation_p.G140*	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	340						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---	capture		Nonsense_Mutation	SNP	123665977	123665977	2893	3	C	A	A	24	24	CCDC14	A	5	2
ZNF148	7707	broad.mit.edu	37	3	124998070	124998070	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124998070C>A	uc003ehx.3	-	6	967	c.481G>T	c.(481-483)GGA>TGA	p.G161*	SLC12A8_uc003ehw.3_5'UTR|ZNF148_uc003ehz.3_Nonsense_Mutation_p.G161*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.G161*|ZNF148_uc003eia.3_Nonsense_Mutation_p.G161*|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	161					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	124998070	124998070	18325	3	C	A	A	21	21	ZNF148	A	5	2
OSBPL11	114885	broad.mit.edu	37	3	125286249	125286249	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125286249G>T	uc003eic.2	-	6	1594	c.857C>A	c.(856-858)TCA>TAA	p.S286*		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	286					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	125286249	125286249	11687	3	G	T	T	45	45	OSBPL11	T	5	2
KBTBD12	166348	broad.mit.edu	37	3	127646667	127646667	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127646667C>A	uc010hsr.2	+	2	1134	c.1131C>A	c.(1129-1131)CTC>CTA	p.L377L	KBTBD12_uc003ejy.3_5'UTR|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.S19Y|KBTBD12_uc003ejz.2_Silent_p.L377L	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	377										ovary(1)	1																		---	---	---	---	capture		Silent	SNP	127646667	127646667	8296	3	C	A	A	32	32	KBTBD12	A	2	2
ACAD9	28976	broad.mit.edu	37	3	128629610	128629610	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128629610G>T	uc003ela.3	+	17	1921	c.1719G>T	c.(1717-1719)GTG>GTT	p.V573V	KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Silent_p.V450V|ACAD9_uc003elb.2_Silent_p.V450V|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Silent_p.V225V|uc003elf.1_Intron	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	573						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	128629610	128629610	112	3	G	T	T	47	47	ACAD9	T	2	2
RHO	6010	broad.mit.edu	37	3	129251164	129251164	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129251164G>T	uc003emt.2	+	3	696	c.601G>T	c.(601-603)GAG>TAG	p.E201*		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	201	Extracellular.	Zinc (By similarity).			protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)													---	---	---	---	capture		Nonsense_Mutation	SNP	129251164	129251164	13805	3	G	T	T	37	37	RHO	T	5	1
DNAJC13	23317	broad.mit.edu	37	3	132172954	132172954	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132172954C>A	uc003eor.2	+	9	950	c.885C>A	c.(883-885)ACC>ACA	p.T295T	DNAJC13_uc010htq.1_Silent_p.T295T|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	295							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	132172954	132172954	4815	3	C	A	A	21	21	DNAJC13	A	2	2
TMEM108	66000	broad.mit.edu	37	3	133098645	133098645	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133098645G>T	uc003eph.2	+	4	364	c.90G>T	c.(88-90)CAG>CAT	p.Q30H	TMEM108_uc003epi.2_Missense_Mutation_p.Q30H|TMEM108_uc003epj.1_Missense_Mutation_p.Q30H|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Translation_Start_Site	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	30	Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	133098645	133098645	16554	3	G	T	T	35	35	TMEM108	T	2	2
TF	7018	broad.mit.edu	37	3	133496080	133496080	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133496080C>T	uc003epu.1	+	21	3788	c.2060C>T	c.(2059-2061)TCA>TTA	p.S687L	TF_uc011blt.1_Missense_Mutation_p.S560L|TF_uc003epw.1_Missense_Mutation_p.S126L|TF_uc003epv.1_Missense_Mutation_p.S687L	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	687					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---	capture		Missense_Mutation	SNP	133496080	133496080	16313	3	C	T	T	29	29	TF	T	2	2
CEP63	80254	broad.mit.edu	37	3	134270794	134270794	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134270794C>A	uc003eqo.1	+	13	1856	c.1407C>A	c.(1405-1407)CTC>CTA	p.L469L	CEP63_uc003eql.1_Silent_p.L423L|CEP63_uc003eqm.2_Silent_p.L423L|CEP63_uc003eqn.1_Silent_p.L469L|CEP63_uc003eqp.1_Silent_p.L98L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	469	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	134270794	134270794	3390	3	C	A	A	29	29	CEP63	A	2	2
PCCB	5096	broad.mit.edu	37	3	136035888	136035888	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136035888C>A	uc003eqy.1	+	10	1123	c.1072C>A	c.(1072-1074)CAA>AAA	p.Q358K	PCCB_uc003eqz.1_Missense_Mutation_p.Q358K|PCCB_uc011bmc.1_Missense_Mutation_p.Q378K|PCCB_uc011bmd.1_Missense_Mutation_p.Q275K	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	358	Acyl-CoA binding (Potential).|Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)													---	---	---	---	capture		Missense_Mutation	SNP	136035888	136035888	11925	3	C	A	A	21	21	PCCB	A	2	2
ARMC8	25852	broad.mit.edu	37	3	137963964	137963964	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137963964G>C	uc003esa.1	+	13	1398	c.1031G>C	c.(1030-1032)CGC>CCC	p.R344P	ARMC8_uc003erw.2_Missense_Mutation_p.R344P|ARMC8_uc003erx.2_Missense_Mutation_p.R344P|ARMC8_uc003ery.2_Missense_Mutation_p.R316P|ARMC8_uc003erz.2_Missense_Mutation_p.R316P|ARMC8_uc011bmf.1_Missense_Mutation_p.R327P|ARMC8_uc011bmg.1_Missense_Mutation_p.R291P|ARMC8_uc011bmh.1_Missense_Mutation_p.R285P|ARMC8_uc003esb.1_Missense_Mutation_p.R316P|ARMC8_uc003esc.1_Missense_Mutation_p.R116P	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	358							binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	137963964	137963964	975	3	G	C	C	38	38	ARMC8	C	3	3
ARMC8	25852	broad.mit.edu	37	3	137988927	137988927	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137988927C>A	uc003esa.1	+	17	1757	c.1390C>A	c.(1390-1392)CAG>AAG	p.Q464K	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.Q447K|ARMC8_uc011bmg.1_Missense_Mutation_p.Q411K|ARMC8_uc011bmh.1_Missense_Mutation_p.Q405K|ARMC8_uc003esb.1_Missense_Mutation_p.Q436K|ARMC8_uc003esc.1_Missense_Mutation_p.Q236K|ARMC8_uc003esf.1_Missense_Mutation_p.Q47K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	478	ARM 10.						binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	137988927	137988927	975	3	C	A	A	29	29	ARMC8	A	2	2
CEP70	80321	broad.mit.edu	37	3	138291716	138291716	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138291716G>T	uc003esl.2	-	3	252	c.54C>A	c.(52-54)CTC>CTA	p.L18L	CEP70_uc011bmk.1_Intron|CEP70_uc011bml.1_5'UTR|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Silent_p.L18L|CEP70_uc003esn.2_Silent_p.L18L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	18					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	138291716	138291716	3392	3	G	T	T	45	45	CEP70	T	2	2
COPB2	9276	broad.mit.edu	37	3	139080022	139080022	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:139080022G>T	uc003etf.3	-	17	2241	c.2111C>A	c.(2110-2112)ACT>AAT	p.T704N	COPB2_uc011bmv.1_Missense_Mutation_p.T675N|COPB2_uc010hui.2_Missense_Mutation_p.T675N	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	704					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	139080022	139080022	3867	3	G	T	T	36	36	COPB2	T	2	2
GRK7	131890	broad.mit.edu	37	3	141499363	141499363	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141499363C>A	uc011bnd.1	+	2	844	c.760C>A	c.(760-762)CTG>ATG	p.L254M		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	254	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	141499363	141499363	7073	3	C	A	A	32	32	GRK7	A	2	2
TFDP2	7029	broad.mit.edu	37	3	141671423	141671423	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141671423C>A	uc003eun.3	-	13	1652	c.1273G>T	c.(1273-1275)GAG>TAG	p.E425*	TFDP2_uc003euk.3_Nonsense_Mutation_p.E338*|TFDP2_uc010hur.2_Nonsense_Mutation_p.E365*|TFDP2_uc003eul.3_Nonsense_Mutation_p.E365*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.E328*|TFDP2_uc011bng.1_Nonsense_Mutation_p.E289*|TFDP2_uc003eum.3_Nonsense_Mutation_p.E365*	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	425					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	141671423	141671423	16326	3	C	A	A	31	31	TFDP2	A	5	1
PLSCR2	57047	broad.mit.edu	37	3	146167049	146167049	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146167049G>T	uc003evv.1	-	7	922	c.589C>A	c.(589-591)CCT>ACT	p.P197T	PLSCR2_uc003evw.1_Missense_Mutation_p.P266T	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	197	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	146167049	146167049	12536	3	G	T	T	43	43	PLSCR2	T	2	2
ZIC4	84107	broad.mit.edu	37	3	147113643	147113643	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147113643G>A	uc003ewd.1	-	3	957	c.684C>T	c.(682-684)CAC>CAT	p.H228H	ZIC4_uc003ewc.1_Silent_p.H158H|ZIC4_uc011bno.1_Silent_p.H278H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	228	C2H2-type 3.			H -> Q (in Ref. 2; AAH29507).		nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	147113643	147113643	18272	3	G	A	A	48	48	ZIC4	A	2	2
GYG1	2992	broad.mit.edu	37	3	148714590	148714590	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148714590G>C	uc003ewn.2	+	4	433	c.380G>C	c.(379-381)GGG>GCG	p.G127A	GYG1_uc011bnp.1_Missense_Mutation_p.G127A|GYG1_uc003ewo.2_Missense_Mutation_p.G127A|GYG1_uc003ewp.2_Missense_Mutation_p.G127A	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	127					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---	capture		Missense_Mutation	SNP	148714590	148714590	7185	3	G	C	C	43	43	GYG1	C	3	3
HLTF	6596	broad.mit.edu	37	3	148777506	148777506	+	Missense_Mutation	SNP	C	A	A	rs3765075		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148777506C>A	uc003ewq.1	-	13	1592	c.1374G>T	c.(1372-1374)AAG>AAT	p.K458N	HLTF_uc003ewr.1_Missense_Mutation_p.K458N|HLTF_uc003ews.1_Missense_Mutation_p.K457N|HLTF_uc010hve.1_Missense_Mutation_p.K457N	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	458	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---	capture		Missense_Mutation	SNP	148777506	148777506	7506	3	C	A	A	24	24	HLTF	A	2	2
CP	1356	broad.mit.edu	37	3	148901366	148901366	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148901366C>T	uc003ewy.3	-	13	2565	c.2312G>A	c.(2311-2313)GGA>GAA	p.G771E	CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G552E|CP_uc003ewz.2_Missense_Mutation_p.G771E	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	771	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---	capture		Missense_Mutation	SNP	148901366	148901366	3925	3	C	T	T	30	30	CP	T	2	2
COMMD2	51122	broad.mit.edu	37	3	149469237	149469237	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149469237C>A	uc003exk.2	-	3	228	c.181G>T	c.(181-183)GGT>TGT	p.G61C		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	61							protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---	capture		Missense_Mutation	SNP	149469237	149469237	3854	3	C	A	A	21	21	COMMD2	A	2	2
FAM194A	131831	broad.mit.edu	37	3	150404142	150404142	+	Splice_Site	SNP	C	A	A	rs143235660	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150404142C>A	uc003eyg.2	-	4	611	c.554_splice	c.e4-1	p.R185_splice	FAM194A_uc003eyh.2_Splice_Site_p.R39_splice	NM_152394	NP_689607			hypothetical protein LOC131831											skin(2)|ovary(1)	3																		---	---	---	---	capture		Splice_Site	SNP	150404142	150404142	5737	3	C	A	A	24	24	FAM194A	A	5	2
MME	4311	broad.mit.edu	37	3	154855959	154855959	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154855959C>A	uc010hvr.1	+	9	1000	c.789C>A	c.(787-789)CCC>CCA	p.P263P	MME_uc003fab.1_Silent_p.P263P|MME_uc003fac.1_Silent_p.P263P|MME_uc003fad.1_Silent_p.P263P|MME_uc003fae.1_Silent_p.P263P	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	263	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---	capture		Silent	SNP	154855959	154855959	10035	3	C	A	A	21	21	MME	A	2	2
MME	4311	broad.mit.edu	37	3	154878217	154878217	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154878217C>A	uc010hvr.1	+	17	1851	c.1640C>A	c.(1639-1641)TCT>TAT	p.S547Y	MME_uc003fab.1_Missense_Mutation_p.S547Y|MME_uc003fac.1_Missense_Mutation_p.S547Y|MME_uc003fad.1_Missense_Mutation_p.S547Y|MME_uc003fae.1_Missense_Mutation_p.S547Y	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	547	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---	capture		Missense_Mutation	SNP	154878217	154878217	10035	3	C	A	A	32	32	MME	A	2	2
KCNAB1	7881	broad.mit.edu	37	3	156254473	156254473	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156254473G>T	uc003far.2	+	14	1261	c.1197G>T	c.(1195-1197)GTG>GTT	p.V399V	KCNAB1_uc011bon.1_Silent_p.V370V|KCNAB1_uc003fas.2_Silent_p.V388V|KCNAB1_uc003fat.2_Silent_p.V381V|KCNAB1_uc010hvt.1_Silent_p.V352V|KCNAB1_uc011boo.1_Silent_p.V275V	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	399						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---	capture		Silent	SNP	156254473	156254473	8314	3	G	T	T	47	47	KCNAB1	T	2	2
LEKR1	389170	broad.mit.edu	37	3	156711036	156711036	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156711036G>T	uc003fba.1	+	10	1502	c.167G>T	c.(166-168)AGG>ATG	p.R56M		NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---	capture		Missense_Mutation	SNP	156711036	156711036	9041	3	G	T	T	35	35	LEKR1	T	2	2
VEPH1	79674	broad.mit.edu	37	3	157146189	157146189	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157146189C>A	uc003fbj.1	-	5	935	c.618G>T	c.(616-618)TTG>TTT	p.L206F	VEPH1_uc003fbk.1_Missense_Mutation_p.L206F|VEPH1_uc010hvu.1_Missense_Mutation_p.L206F	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	206						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---	capture		Missense_Mutation	SNP	157146189	157146189	17721	3	C	A	A	29	29	VEPH1	A	2	2
RSRC1	51319	broad.mit.edu	37	3	158261981	158261981	+	Nonsense_Mutation	SNP	G	T	T	rs140479858	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158261981G>T	uc003fbt.2	+	10	1033	c.922G>T	c.(922-924)GAG>TAG	p.E308*	RSRC1_uc003fbv.2_Nonsense_Mutation_p.E250*	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	308					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)															---	---	---	---	capture		Nonsense_Mutation	SNP	158261981	158261981	14194	3	G	T	T	37	37	RSRC1	T	5	1
KPNA4	3840	broad.mit.edu	37	3	160243787	160243787	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160243787C>A	uc003fdn.2	-	9	971	c.665G>T	c.(664-666)TGG>TTG	p.W222L		NM_002268	NP_002259	O00629	IMA4_HUMAN	karyopherin alpha 4	222	NLS binding site (major) (By similarity).|ARM 4.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)															---	---	---	---	capture		Missense_Mutation	SNP	160243787	160243787	8746	3	C	A	A	21	21	KPNA4	A	2	2
WDR49	151790	broad.mit.edu	37	3	167272570	167272570	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167272570C>A	uc003fev.1	-	6	974	c.668G>T	c.(667-669)GGA>GTA	p.G223V	WDR49_uc003feu.1_Missense_Mutation_p.G48V|WDR49_uc011bpd.1_Missense_Mutation_p.G276V|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	223	WD 4.									large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	167272570	167272570	17875	3	C	A	A	30	30	WDR49	A	2	2
GOLIM4	27333	broad.mit.edu	37	3	167747050	167747050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167747050G>A	uc003ffe.2	-	11	1818	c.1474C>T	c.(1474-1476)CAG>TAG	p.Q492*	GOLIM4_uc011bpe.1_Nonsense_Mutation_p.Q492*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.Q464*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.Q464*	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	492	Glu-rich.|Gln-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	167747050	167747050	6839	3	G	A	A	45	45	GOLIM4	A	5	2
ARPM1	84517	broad.mit.edu	37	3	169485571	169485571	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169485571C>A	uc003ffs.1	-	2	1143	c.768G>T	c.(766-768)GAG>GAT	p.E256D	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	256						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)															---	---	---	---	capture		Missense_Mutation	SNP	169485571	169485571	994	3	C	A	A	24	24	ARPM1	A	2	2
SLC7A14	57709	broad.mit.edu	37	3	170198327	170198327	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170198327A>T	uc003fgz.2	-	7	2060	c.1744T>A	c.(1744-1746)TTC>ATC	p.F582I	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	582	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)															---	---	---	---	capture		Missense_Mutation	SNP	170198327	170198327	15193	3	A	T	T	3	3	SLC7A14	T	4	4
TNIK	23043	broad.mit.edu	37	3	170819284	170819284	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170819284C>A	uc003fhh.2	-	22	2890	c.2545G>T	c.(2545-2547)GAG>TAG	p.E849*	TNIK_uc003fhi.2_Nonsense_Mutation_p.E794*|TNIK_uc003fhj.2_Nonsense_Mutation_p.E820*|TNIK_uc003fhk.2_Nonsense_Mutation_p.E841*|TNIK_uc003fhl.2_Nonsense_Mutation_p.E765*|TNIK_uc003fhm.2_Nonsense_Mutation_p.E786*|TNIK_uc003fhn.2_Nonsense_Mutation_p.E812*|TNIK_uc003fho.2_Nonsense_Mutation_p.E757*|TNIK_uc003fhg.2_Nonsense_Mutation_p.E27*	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	849	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---	capture		Nonsense_Mutation	SNP	170819284	170819284	16854	3	C	A	A	31	31	TNIK	A	5	1
FNDC3B	64778	broad.mit.edu	37	3	171851309	171851309	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171851309G>T	uc003fhy.2	+	3	332	c.160G>T	c.(160-162)GAG>TAG	p.E54*	FNDC3B_uc003fhz.3_Nonsense_Mutation_p.E54*|FNDC3B_uc003fia.2_5'UTR|FNDC3B_uc003fhx.2_RNA	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	54						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)														---	---	---	---	capture		Nonsense_Mutation	SNP	171851309	171851309	6212	3	G	T	T	33	33	FNDC3B	T	5	2
SPATA16	83893	broad.mit.edu	37	3	172835271	172835271	+	Missense_Mutation	SNP	C	G	G	rs143065627		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172835271C>G	uc003fin.3	-	2	409	c.251G>C	c.(250-252)CGG>CCG	p.R84P		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	84					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)															---	---	---	---	capture		Missense_Mutation	SNP	172835271	172835271	15509	3	C	G	G	23	23	SPATA16	G	3	3
PIK3CA	5290	broad.mit.edu	37	3	178948133	178948133	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178948133C>A	uc003fjk.2	+	20	3062	c.2905C>A	c.(2905-2907)CAA>AAA	p.Q969K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	969	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	178948133	178948133	12337	3	C	A	A	21	21	PIK3CA	A	2	2
CCDC39	339829	broad.mit.edu	37	3	180359867	180359867	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180359867C>A	uc010hxe.2	-	13	1903	c.1788G>T	c.(1786-1788)ATG>ATT	p.M596I	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	596	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---	capture		Missense_Mutation	SNP	180359867	180359867	2933	3	C	A	A	21	21	CCDC39	A	2	2
ATP11B	23200	broad.mit.edu	37	3	182553854	182553854	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182553854A>G	uc003flb.2	+	5	604	c.347A>G	c.(346-348)GAT>GGT	p.D116G	ATP11B_uc003fla.2_Missense_Mutation_p.D116G	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	116	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---	capture		Missense_Mutation	SNP	182553854	182553854	1139	3	A	G	G	12	12	ATP11B	G	4	4
DCUN1D1	54165	broad.mit.edu	37	3	182679086	182679086	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182679086C>A	uc003fld.1	-	4	497	c.448G>T	c.(448-450)GAA>TAA	p.E150*	DCUN1D1_uc011bqn.1_Nonsense_Mutation_p.E7*	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	150	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)															---	---	---	---	capture		Nonsense_Mutation	SNP	182679086	182679086	4484	3	C	A	A	32	32	DCUN1D1	A	5	2
DCUN1D1	54165	broad.mit.edu	37	3	182679095	182679095	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182679095C>A	uc003fld.1	-	4	488	c.439G>T	c.(439-441)GAA>TAA	p.E147*	DCUN1D1_uc011bqn.1_Nonsense_Mutation_p.E4*	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	147	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)															---	---	---	---	capture		Nonsense_Mutation	SNP	182679095	182679095	4484	3	C	A	A	32	32	DCUN1D1	A	5	2
MCCC1	56922	broad.mit.edu	37	3	182733349	182733349	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182733349G>T	uc003fle.2	-	19	2192	c.2055C>A	c.(2053-2055)ACC>ACA	p.T685T	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.T568T|MCCC1_uc003flg.2_Silent_p.T576T	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	685	Biotinyl-binding.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)													---	---	---	---	capture		Silent	SNP	182733349	182733349	9763	3	G	T	T	47	47	MCCC1	T	2	2
MCF2L2	23101	broad.mit.edu	37	3	183041131	183041131	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183041131C>A	uc003fli.1	-	6	585	c.495G>T	c.(493-495)ATG>ATT	p.M165I	MCF2L2_uc003flj.1_Missense_Mutation_p.M165I|MCF2L2_uc003flp.1_Missense_Mutation_p.M200I	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	165	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)															---	---	---	---	capture		Missense_Mutation	SNP	183041131	183041131	9769	3	C	A	A	21	21	MCF2L2	A	2	2
KLHL24	54800	broad.mit.edu	37	3	183388846	183388846	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183388846G>T	uc003flv.2	+	6	1544	c.1249G>T	c.(1249-1251)GGG>TGG	p.G417W	KLHL24_uc003flw.2_Missense_Mutation_p.G417W|KLHL24_uc003flx.2_Missense_Mutation_p.G417W	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	417	Kelch 3.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183388846	183388846	8691	3	G	T	T	47	47	KLHL24	T	2	2
CLCN2	1181	broad.mit.edu	37	3	184075157	184075157	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184075157C>A	uc003foi.2	-	8	1015	c.891G>T	c.(889-891)CGG>CGT	p.R297R	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Silent_p.R297R|CLCN2_uc011brl.1_Silent_p.R297R|CLCN2_uc011brm.1_Silent_p.R253R|CLCN2_uc011brn.1_Silent_p.R297R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	297						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)													---	---	---	---	capture		Silent	SNP	184075157	184075157	3599	3	C	A	A	22	22	CLCN2	A	2	2
LIPH	200879	broad.mit.edu	37	3	185245287	185245287	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185245287G>T	uc003fpm.2	-	4	723	c.613C>A	c.(613-615)CAT>AAT	p.H205N	LIPH_uc010hyh.2_Intron	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	205			Missing (in LAH2).		lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)															---	---	---	---	capture		Missense_Mutation	SNP	185245287	185245287	9151	3	G	T	T	47	47	LIPH	T	2	2
CRYGS	1427	broad.mit.edu	37	3	186257249	186257249	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186257249G>T	uc003fqe.2	-	2	211	c.159C>A	c.(157-159)CCC>CCA	p.P53P	CRYGS_uc003fqf.2_Silent_p.P53P	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	53	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)														---	---	---	---	capture		Silent	SNP	186257249	186257249	4058	3	G	T	T	47	47	CRYGS	T	2	2
EIF4A2	1974	broad.mit.edu	37	3	186504960	186504960	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186504960C>A	uc003fqs.2	+	8	855	c.816C>A	c.(814-816)ACC>ACA	p.T272T	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Silent_p.T273T|EIF4A2_uc003fqv.2_Silent_p.T177T|EIF4A2_uc003fqw.2_Silent_p.T177T|EIF4A2_uc011bsb.1_Silent_p.T145T|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	272	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)				T	BCL6	NHL								---	---	---	---	capture		Silent	SNP	186504960	186504960	5216	3	C	A	A	21	21	EIF4A2	A	2	2
RTP1	132112	broad.mit.edu	37	3	186917839	186917839	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186917839C>A	uc003frg.2	+	2	803	c.773C>A	c.(772-774)TCT>TAT	p.S258Y		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	258	Helical; (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)														---	---	---	---	capture		Missense_Mutation	SNP	186917839	186917839	14213	3	C	A	A	32	32	RTP1	A	2	2
MASP1	5648	broad.mit.edu	37	3	186959294	186959294	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186959294C>A	uc003frh.1	-	10	1610	c.1278G>T	c.(1276-1278)GGG>GGT	p.G426G	MASP1_uc003fri.2_Silent_p.G426G|MASP1_uc003frj.2_Silent_p.G395G	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	426	Sushi 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---	capture		Silent	SNP	186959294	186959294	9706	3	C	A	A	30	30	MASP1	A	2	2
CLDN16	10686	broad.mit.edu	37	3	190127775	190127775	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190127775G>T	uc003fsi.2	+	5	936	c.868G>T	c.(868-870)GCC>TCC	p.A290S	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	290	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)														---	---	---	---	capture		Missense_Mutation	SNP	190127775	190127775	3613	3	G	T	T	34	34	CLDN16	T	2	2
FGF12	2257	broad.mit.edu	37	3	191888391	191888391	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:191888391C>A	uc003fsx.2	-	4	1295	c.469G>T	c.(469-471)GTG>TTG	p.V157L	FGF12_uc003fsy.2_Missense_Mutation_p.V95L	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	157					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)														---	---	---	---	capture		Missense_Mutation	SNP	191888391	191888391	6078	3	C	A	A	17	17	FGF12	A	2	2
OPA1	4976	broad.mit.edu	37	3	193349413	193349413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193349413G>T	uc003ftm.2	+	6	871	c.637G>T	c.(637-639)GAG>TAG	p.E213*	OPA1_uc003ftg.2_Nonsense_Mutation_p.E268*|OPA1_uc003fth.2_Nonsense_Mutation_p.E232*|OPA1_uc003fti.2_Nonsense_Mutation_p.E250*|OPA1_uc003ftj.2_Nonsense_Mutation_p.E231*|OPA1_uc003ftk.2_Nonsense_Mutation_p.E214*|OPA1_uc003ftl.2_Nonsense_Mutation_p.E195*|OPA1_uc003ftn.2_Nonsense_Mutation_p.E177*	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	213	Mitochondrial intermembrane (By similarity).|Potential.				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---	capture		Nonsense_Mutation	SNP	193349413	193349413	11277	3	G	T	T	33	33	OPA1	T	5	2
UBXN7	26043	broad.mit.edu	37	3	196129834	196129834	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196129834G>T	uc003fwm.3	-	3	353	c.278C>A	c.(277-279)CCA>CAA	p.P93Q	UBXN7_uc003fwn.3_5'UTR|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.P93Q	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7	93							protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	196129834	196129834	17476	3	G	T	T	47	47	UBXN7	T	2	2
DLG1	1739	broad.mit.edu	37	3	196867071	196867071	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196867071G>T	uc003fxo.3	-	9	942	c.752C>A	c.(751-753)TCA>TAA	p.S251*	DLG1_uc011bub.1_Nonsense_Mutation_p.S135*|DLG1_uc011buc.1_Nonsense_Mutation_p.S135*|DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Nonsense_Mutation_p.S251*|DLG1_uc011bue.1_Nonsense_Mutation_p.S218*|DLG1_uc010ial.2_Nonsense_Mutation_p.S251*|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.S218*|DLG1_uc010ian.2_Nonsense_Mutation_p.S118*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	251	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---	capture		Nonsense_Mutation	SNP	196867071	196867071	4734	3	G	T	T	45	45	DLG1	T	5	2
ZNF595	152687	broad.mit.edu	37	4	59387	59387	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:59387C>A	uc003fzv.1	+	2	224	c.68C>A	c.(67-69)CCT>CAT	p.P23H	ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.T23N|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Translation_Start_Site|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	23					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	59387	59387	18620	4	C	A	A	24	24	ZNF595	A	2	2
ZNF721	170960	broad.mit.edu	37	4	438027	438027	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:438027G>T	uc003gag.2	-	3	920	c.229C>A	c.(229-231)CAG>AAG	p.Q77K	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Q109K|ZNF721_uc010ibe.2_Missense_Mutation_p.Q65K	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	77						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	438027	438027	18719	4	G	T	T	45	45	ZNF721	T	2	2
HTT	3064	broad.mit.edu	37	4	3189401	3189401	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3189401G>T	uc011bvq.1	+	40	5164	c.5019G>T	c.(5017-5019)CTG>CTT	p.L1673L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1671					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---	capture		Silent	SNP	3189401	3189401	7757	4	G	T	T	48	48	HTT	T	2	2
CRMP1	1400	broad.mit.edu	37	4	5837709	5837709	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5837709G>T	uc003gip.2	-	12	1315	c.1214C>A	c.(1213-1215)TCG>TAG	p.S405*	CRMP1_uc003gin.1_Nonsense_Mutation_p.S317*|CRMP1_uc003giq.2_Nonsense_Mutation_p.S405*|CRMP1_uc003gir.2_Nonsense_Mutation_p.S400*|CRMP1_uc003gis.2_Nonsense_Mutation_p.S519*	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	405					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)														---	---	---	---	capture		Nonsense_Mutation	SNP	5837709	5837709	4029	4	G	T	T	37	37	CRMP1	T	5	1
AFAP1	60312	broad.mit.edu	37	4	7787937	7787937	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7787937G>T	uc003gkg.1	-	12	1787	c.1514C>A	c.(1513-1515)CCG>CAG	p.P505Q	AFAP1_uc011bwk.1_Missense_Mutation_p.P505Q	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	505						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7787937	7787937	354	4	G	T	T	39	39	AFAP1	T	1	1
ZNF518B	85460	broad.mit.edu	37	4	10447907	10447907	+	Nonsense_Mutation	SNP	C	A	A	rs72648876	byFrequency;by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10447907C>A	uc003gmn.2	-	3	533	c.46G>T	c.(46-48)GGA>TGA	p.G16*		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	10447907	10447907	18557	4	C	A	A	23	23	ZNF518B	A	5	1
GPR125	166647	broad.mit.edu	37	4	22422582	22422582	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22422582G>T	uc003gqm.1	-	12	2001	c.1736C>A	c.(1735-1737)CCA>CAA	p.P579Q	GPR125_uc010ieo.1_Missense_Mutation_p.P453Q|GPR125_uc003gqn.1_Missense_Mutation_p.P353Q|GPR125_uc003gqo.2_Missense_Mutation_p.P579Q	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	579	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)																---	---	---	---	capture		Missense_Mutation	SNP	22422582	22422582	6913	4	G	T	T	47	47	GPR125	T	2	2
SEL1L3	23231	broad.mit.edu	37	4	25783963	25783963	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25783963G>T	uc003gru.3	-	15	2510	c.2358C>A	c.(2356-2358)TAC>TAA	p.Y786*	SEL1L3_uc003grv.2_Nonsense_Mutation_p.Y193*	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	786	Sel1-like 5.					integral to membrane	binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	25783963	25783963	14498	4	G	T	T	36	36	SEL1L3	T	5	2
ARAP2	116984	broad.mit.edu	37	4	36214902	36214902	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36214902C>A	uc003gsq.1	-	4	1342	c.1004G>T	c.(1003-1005)GGA>GTA	p.G335V	ARAP2_uc003gsr.1_Missense_Mutation_p.G335V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	335					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	36214902	36214902	850	4	C	A	A	30	30	ARAP2	A	2	2
TBC1D1	23216	broad.mit.edu	37	4	38097700	38097700	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38097700C>A	uc003gtb.2	+	14	2730	c.2387C>A	c.(2386-2388)GCT>GAT	p.A796D	TBC1D1_uc011byd.1_Missense_Mutation_p.A890D|TBC1D1_uc010ifd.2_Missense_Mutation_p.A583D	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	796						nucleus	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38097700	38097700	16119	4	C	A	A	28	28	TBC1D1	A	2	2
FAM114A1	92689	broad.mit.edu	37	4	38907226	38907226	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38907226C>A	uc003gtn.2	+	5	696	c.520C>A	c.(520-522)CAA>AAA	p.Q174K	FAM114A1_uc011byh.1_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	174						cytoplasm				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38907226	38907226	5600	4	C	A	A	21	21	FAM114A1	A	2	2
N4BP2	55728	broad.mit.edu	37	4	40123254	40123254	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40123254C>A	uc003guy.3	+	9	3861	c.3523C>A	c.(3523-3525)CCT>ACT	p.P1175T	N4BP2_uc010ifq.2_Missense_Mutation_p.P1095T|N4BP2_uc010ifr.2_Missense_Mutation_p.P1095T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1175						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	40123254	40123254	10505	4	C	A	A	30	30	N4BP2	A	2	2
CHRNA9	55584	broad.mit.edu	37	4	40356159	40356159	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40356159G>T	uc003gva.1	+	5	1078	c.1062G>T	c.(1060-1062)GTG>GTT	p.V354V		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	354	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)													---	---	---	---	capture		Silent	SNP	40356159	40356159	3523	4	G	T	T	47	47	CHRNA9	T	2	2
LIMCH1	22998	broad.mit.edu	37	4	41699182	41699182	+	Missense_Mutation	SNP	G	C	C	rs142431467		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41699182G>C	uc003gvu.3	+	27	3286	c.3232G>C	c.(3232-3234)GGG>CGG	p.G1078R	LIMCH1_uc003gvv.3_Missense_Mutation_p.G1052R|LIMCH1_uc003gvw.3_Missense_Mutation_p.G1051R|LIMCH1_uc003gvx.3_Missense_Mutation_p.G1064R|LIMCH1_uc003gwe.3_Missense_Mutation_p.G975R|LIMCH1_uc003gvy.3_Missense_Mutation_p.G880R|LIMCH1_uc003gwa.3_Missense_Mutation_p.G892R|LIMCH1_uc003gvz.3_Missense_Mutation_p.G1462R|LIMCH1_uc011byu.1_Missense_Mutation_p.G911R|LIMCH1_uc003gwc.3_Missense_Mutation_p.G897R|LIMCH1_uc003gwd.3_Missense_Mutation_p.G885R|LIMCH1_uc011byv.1_Missense_Mutation_p.G828R|LIMCH1_uc011byw.1_Missense_Mutation_p.G351R|LIMCH1_uc010ifv.2_RNA	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1078					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	41699182	41699182	9123	4	G	C	C	39	39	LIMCH1	C	3	3
ATP8A1	10396	broad.mit.edu	37	4	42553231	42553231	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42553231G>T	uc003gwr.2	-	18	1818	c.1586C>A	c.(1585-1587)TCG>TAG	p.S529*	ATP8A1_uc003gws.2_Nonsense_Mutation_p.S514*|ATP8A1_uc011byz.1_Nonsense_Mutation_p.S514*	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	529	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---	capture		Nonsense_Mutation	SNP	42553231	42553231	1211	4	G	T	T	37	37	ATP8A1	T	5	1
ATP8A1	10396	broad.mit.edu	37	4	42580325	42580325	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42580325C>A	uc003gwr.2	-	12	1312	c.1080G>T	c.(1078-1080)TTG>TTT	p.L360F	ATP8A1_uc003gws.2_Missense_Mutation_p.L360F|ATP8A1_uc011byz.1_Missense_Mutation_p.L360F	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	360	Helical; (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---	capture		Missense_Mutation	SNP	42580325	42580325	1211	4	C	A	A	21	21	ATP8A1	A	2	2
CORIN	10699	broad.mit.edu	37	4	47647201	47647201	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47647201C>A	uc003gxm.2	-	14	1947	c.1854G>T	c.(1852-1854)GAG>GAT	p.E618D	CORIN_uc011bzf.1_Missense_Mutation_p.E479D|CORIN_uc011bzg.1_Missense_Mutation_p.E551D|CORIN_uc011bzh.1_Missense_Mutation_p.E581D	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	618	Extracellular (Potential).|LDL-receptor class A 6.				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	47647201	47647201	3890	4	C	A	A	32	32	CORIN	A	2	2
CORIN	10699	broad.mit.edu	37	4	47667239	47667239	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47667239G>T	uc003gxm.2	-	11	1492	c.1399C>A	c.(1399-1401)CCC>ACC	p.P467T	CORIN_uc011bzf.1_Missense_Mutation_p.P328T|CORIN_uc011bzg.1_Missense_Mutation_p.P400T|CORIN_uc011bzh.1_Missense_Mutation_p.P430T|CORIN_uc011bzi.1_Missense_Mutation_p.P430T	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	467	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	p.P467R(1)		ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47667239	47667239	3890	4	G	T	T	42	42	CORIN	T	2	2
CORIN	10699	broad.mit.edu	37	4	47746428	47746428	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47746428C>A	uc003gxm.2	-	5	883	c.790G>T	c.(790-792)GGA>TGA	p.G264*	CORIN_uc011bzf.1_Nonsense_Mutation_p.G125*|CORIN_uc011bzg.1_Nonsense_Mutation_p.G197*|CORIN_uc011bzh.1_Nonsense_Mutation_p.G264*|CORIN_uc011bzi.1_Nonsense_Mutation_p.G264*|CORIN_uc003gxn.3_Nonsense_Mutation_p.G264*	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	264	Extracellular (Potential).				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		Nonsense_Mutation	SNP	47746428	47746428	3890	4	C	A	A	23	23	CORIN	A	5	1
CWH43	80157	broad.mit.edu	37	4	49005791	49005791	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:49005791G>T	uc003gyv.2	+	7	1024	c.842G>T	c.(841-843)TGG>TTG	p.W281L	CWH43_uc011bzl.1_Missense_Mutation_p.W254L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	281	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	49005791	49005791	4233	4	G	T	T	47	47	CWH43	T	2	2
LRRC66	339977	broad.mit.edu	37	4	52861072	52861072	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52861072C>G	uc003gzi.2	-	4	2129	c.2116G>C	c.(2116-2118)GAT>CAT	p.D706H		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	706						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	52861072	52861072	9393	4	C	G	G	29	29	LRRC66	G	3	3
SPATA18	132671	broad.mit.edu	37	4	52948573	52948573	+	Nonsense_Mutation	SNP	C	A	A	rs146699723		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52948573C>A	uc003gzl.2	+	10	1654	c.1376C>A	c.(1375-1377)TCG>TAG	p.S459*	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Nonsense_Mutation_p.S427*|SPATA18_uc003gzk.1_Nonsense_Mutation_p.S459*	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	459					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---	capture		Nonsense_Mutation	SNP	52948573	52948573	15511	4	C	A	A	31	31	SPATA18	A	5	1
KIT	3815	broad.mit.edu	37	4	55594022	55594022	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55594022T>A	uc010igr.2	+	12	1895	c.1808T>A	c.(1807-1809)GTT>GAT	p.V603D	KIT_uc010igs.2_Missense_Mutation_p.V599D|KIT_uc010igt.1_Missense_Mutation_p.V52D	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	603	ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---	capture		Missense_Mutation	SNP	55594022	55594022	8641	4	T	A	A	60	60	KIT	A	4	4
EXOC1	55763	broad.mit.edu	37	4	56736987	56736987	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56736987G>T	uc003hbe.1	+	6	905	c.747G>T	c.(745-747)ATG>ATT	p.M249I	EXOC1_uc003hbf.1_Missense_Mutation_p.M249I|EXOC1_uc003hbg.1_Missense_Mutation_p.M249I	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	249	Potential.				exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	56736987	56736987	5494	4	G	T	T	47	47	EXOC1	T	2	2
CEP135	9662	broad.mit.edu	37	4	56878050	56878050	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56878050G>A	uc003hbi.2	+	21	2935	c.2701G>A	c.(2701-2703)GAG>AAG	p.E901K	CEP135_uc003hbj.2_Missense_Mutation_p.E607K	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	901	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	56878050	56878050	3380	4	G	A	A	45	45	CEP135	A	2	2
PPAT	5471	broad.mit.edu	37	4	57267592	57267592	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57267592G>T	uc003hbr.2	-	7	992	c.790C>A	c.(790-792)CAA>AAA	p.Q264K		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	264					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---	capture		Missense_Mutation	SNP	57267592	57267592	12732	4	G	T	T	47	47	PPAT	T	2	2
POLR2B	5431	broad.mit.edu	37	4	57887065	57887065	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57887065G>T	uc003hcl.1	+	17	2367	c.2324G>T	c.(2323-2325)GGC>GTC	p.G775V	POLR2B_uc011cae.1_Missense_Mutation_p.G768V|POLR2B_uc011caf.1_Missense_Mutation_p.G700V|POLR2B_uc003hcm.1_Missense_Mutation_p.G268V	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	775					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	57887065	57887065	12643	4	G	T	T	42	42	POLR2B	T	2	2
TMPRSS11A	339967	broad.mit.edu	37	4	68789880	68789880	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68789880C>A	uc003hdr.1	-	6	616	c.495G>T	c.(493-495)ATG>ATT	p.M165I	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.M162I	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	165	SEA.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	68789880	68789880	16779	4	C	A	A	29	29	TMPRSS11A	A	2	2
ENAM	10117	broad.mit.edu	37	4	71501570	71501570	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71501570G>T	uc011caw.1	+	7	774	c.493G>T	c.(493-495)GGG>TGG	p.G165W		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	165					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	71501570	71501570	5305	4	G	T	T	47	47	ENAM	T	2	2
RUFY3	22902	broad.mit.edu	37	4	71672254	71672254	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71672254G>T	uc003hfr.2	+	18	2336	c.1741G>T	c.(1741-1743)GGA>TGA	p.G581*	RUFY3_uc011cay.1_Nonsense_Mutation_p.G517*	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 1	Error:Variant_position_missing_in_Q7L099_after_alignment					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)															---	---	---	---	capture		Nonsense_Mutation	SNP	71672254	71672254	14220	4	G	T	T	39	39	RUFY3	T	5	1
ADAMTS3	9508	broad.mit.edu	37	4	73154561	73154561	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73154561T>C	uc003hgk.1	-	21	2993	c.2956A>G	c.(2956-2958)ACG>GCG	p.T986A		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	986	TSP type-1 4.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73154561	73154561	268	4	T	C	C	60	60	ADAMTS3	C	4	4
ADAMTS3	9508	broad.mit.edu	37	4	73188783	73188783	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73188783C>A	uc003hgk.1	-	6	930	c.893G>T	c.(892-894)GGA>GTA	p.G298V		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	298	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73188783	73188783	268	4	C	A	A	30	30	ADAMTS3	A	2	2
ANKRD17	26057	broad.mit.edu	37	4	74124090	74124090	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74124090C>T	uc003hgp.2	-	1	413	c.296G>A	c.(295-297)GGA>GAA	p.G99E	ANKRD17_uc003hgq.2_Missense_Mutation_p.G99E|ANKRD17_uc003hgr.2_Missense_Mutation_p.G99E	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	99	Gly-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	74124090	74124090	649	4	C	T	T	30	30	ANKRD17	T	2	2
PPEF2	5470	broad.mit.edu	37	4	76805801	76805801	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76805801G>T	uc003hix.2	-	8	1049	c.692C>A	c.(691-693)CCC>CAC	p.P231H	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.P231H	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	231	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---	capture		Missense_Mutation	SNP	76805801	76805801	12738	4	G	T	T	43	43	PPEF2	T	2	2
CNOT6L	246175	broad.mit.edu	37	4	78647416	78647416	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78647416C>A	uc011ccd.1	-	11	1491	c.1360G>T	c.(1360-1362)GGA>TGA	p.G454*	CNOT6L_uc003hks.2_Nonsense_Mutation_p.G454*|CNOT6L_uc003hkt.1_Nonsense_Mutation_p.G297*	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	454					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	78647416	78647416	3761	4	C	A	A	21	21	CNOT6L	A	5	2
HNRPDL	9987	broad.mit.edu	37	4	83349249	83349249	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83349249G>T	uc003hmr.2	-	3	1231	c.696C>A	c.(694-696)CCC>CCA	p.P232P	ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Silent_p.P232P	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	232					regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)																---	---	---	---	capture		Silent	SNP	83349249	83349249	7568	4	G	T	T	47	47	HNRPDL	T	2	2
HELQ	113510	broad.mit.edu	37	4	84348741	84348741	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84348741G>T	uc003hom.2	-	13	2830	c.2651C>A	c.(2650-2652)CCT>CAT	p.P884H	HELQ_uc010ikb.2_Missense_Mutation_p.P817H|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	884							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3													Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---	capture		Missense_Mutation	SNP	84348741	84348741	7330	4	G	T	T	35	35	HELQ	T	2	2
WDFY3	23001	broad.mit.edu	37	4	85731105	85731105	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85731105G>T	uc003hpd.2	-	14	2688	c.2280C>A	c.(2278-2280)CCC>CCA	p.P760P	WDFY3_uc003hpf.2_Silent_p.P760P	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	760						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---	capture		Silent	SNP	85731105	85731105	17842	4	G	T	T	47	47	WDFY3	T	2	2
MAPK10	5602	broad.mit.edu	37	4	86988996	86988996	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86988996C>A	uc003hpq.2	-	9	982	c.915G>T	c.(913-915)GCG>GCT	p.A305A	MAPK10_uc010ikg.2_Silent_p.A267A|MAPK10_uc003hpr.2_Silent_p.A267A|MAPK10_uc003hps.2_Silent_p.A305A|MAPK10_uc003hpt.2_Silent_p.A305A|MAPK10_uc003hpu.2_Silent_p.A305A|MAPK10_uc003hpv.2_Silent_p.A160A|MAPK10_uc003hpn.2_Silent_p.A53A|MAPK10_uc003hpo.2_Silent_p.A160A|MAPK10_uc011ccw.1_Silent_p.A191A|MAPK10_uc003hpp.2_Silent_p.A160A	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	305	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)														---	---	---	---	capture		Silent	SNP	86988996	86988996	9655	4	C	A	A	23	23	MAPK10	A	1	1
ABCG2	9429	broad.mit.edu	37	4	89052213	89052213	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89052213C>T	uc003hrg.2	-	5	1024	c.531G>A	c.(529-531)AAG>AAA	p.K177K	ABCG2_uc003hrh.2_Silent_p.K177K|ABCG2_uc003hrf.2_Silent_p.K47K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	177	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)													---	---	---	---	capture		Silent	SNP	89052213	89052213	70	4	C	T	T	24	24	ABCG2	T	2	2
HERC5	51191	broad.mit.edu	37	4	89393630	89393630	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89393630C>A	uc003hrt.2	+	11	1522	c.1369C>A	c.(1369-1371)CAA>AAA	p.Q457K	HERC5_uc011cdm.1_Missense_Mutation_p.Q95K	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	457					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)														---	---	---	---	capture		Missense_Mutation	SNP	89393630	89393630	7344	4	C	A	A	21	21	HERC5	A	2	2
SMARCAD1	56916	broad.mit.edu	37	4	95201832	95201832	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95201832G>T	uc003htc.3	+	20	2763	c.2508G>T	c.(2506-2508)CAG>CAT	p.Q836H	SMARCAD1_uc003htb.3_Missense_Mutation_p.Q838H|SMARCAD1_uc003htd.3_Missense_Mutation_p.Q838H|SMARCAD1_uc010ila.2_Missense_Mutation_p.Q701H|SMARCAD1_uc011cdw.1_Missense_Mutation_p.Q406H	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	836					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---	capture		Missense_Mutation	SNP	95201832	95201832	15270	4	G	T	T	36	36	SMARCAD1	T	2	2
MTTP	4547	broad.mit.edu	37	4	100543994	100543994	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100543994G>T	uc003hvc.3	+	19	2930	c.2674G>T	c.(2674-2676)GGA>TGA	p.G892*	MTTP_uc011cej.1_Nonsense_Mutation_p.G919*	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	892					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---	capture		Nonsense_Mutation	SNP	100543994	100543994	10357	4	G	T	T	39	39	MTTP	T	5	1
CENPE	1062	broad.mit.edu	37	4	104062989	104062989	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104062989C>G	uc003hxb.1	-	35	5471	c.5381G>C	c.(5380-5382)AGA>ACA	p.R1794T	CENPE_uc003hxc.1_Missense_Mutation_p.R1769T|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1794	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---	capture		Missense_Mutation	SNP	104062989	104062989	3363	4	C	G	G	32	32	CENPE	G	3	3
LEF1	51176	broad.mit.edu	37	4	108999527	108999527	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108999527T>C	uc003hyt.1	-	8	1512	c.857A>G	c.(856-858)CAT>CGT	p.H286R	LEF1_uc011cfj.1_Missense_Mutation_p.H143R|LEF1_uc011cfk.1_Missense_Mutation_p.H190R|LEF1_uc003hyu.1_Missense_Mutation_p.H258R|LEF1_uc003hyv.1_Missense_Mutation_p.H258R|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	286					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)														---	---	---	---	capture		Missense_Mutation	SNP	108999527	108999527	9038	4	T	C	C	51	51	LEF1	C	4	4
SEC24B	10427	broad.mit.edu	37	4	110447381	110447381	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110447381G>T	uc003hzk.2	+	17	2847	c.2792_splice	c.e17-1	p.G931_splice	SEC24B_uc003hzl.2_Splice_Site_p.G896_splice|SEC24B_uc011cfp.1_Splice_Site_p.G961_splice|SEC24B_uc011cfq.1_Splice_Site_p.G930_splice|SEC24B_uc011cfr.1_Splice_Site_p.G895_splice	NM_006323	NP_006314			SEC24 (S. cerevisiae) homolog B isoform a						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)														---	---	---	---	capture		Splice_Site	SNP	110447381	110447381	14481	4	G	T	T	35	35	SEC24B	T	5	2
C4orf21	55345	broad.mit.edu	37	4	113524748	113524748	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113524748C>A	uc003iau.2	-	10	3119	c.2908G>T	c.(2908-2910)GAG>TAG	p.E970*	C4orf21_uc003iaw.2_Nonsense_Mutation_p.E970*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)														---	---	---	---	capture		Nonsense_Mutation	SNP	113524748	113524748	2349	4	C	A	A	29	29	C4orf21	A	5	2
NDST3	9348	broad.mit.edu	37	4	119174740	119174740	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119174740C>A	uc003ibx.2	+	13	2889	c.2486C>A	c.(2485-2487)CCT>CAT	p.P829H		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	829	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	119174740	119174740	10656	4	C	A	A	24	24	NDST3	A	2	2
USP53	54532	broad.mit.edu	37	4	120192501	120192501	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120192501C>A	uc003ics.3	+	15	2552	c.1486C>A	c.(1486-1488)CCA>ACA	p.P496T	USP53_uc003icr.3_Missense_Mutation_p.P496T|USP53_uc003icu.3_Missense_Mutation_p.P119T|USP53_uc003ict.2_Missense_Mutation_p.P119T	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	496					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	120192501	120192501	17648	4	C	A	A	22	22	USP53	A	2	2
PDE5A	8654	broad.mit.edu	37	4	120488293	120488293	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120488293C>A	uc003idh.2	-	4	993	c.838G>T	c.(838-840)GGT>TGT	p.G280C	PDE5A_uc003idf.2_Missense_Mutation_p.G238C|PDE5A_uc003idg.2_Missense_Mutation_p.G228C	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	280	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)													---	---	---	---	capture		Missense_Mutation	SNP	120488293	120488293	12065	4	C	A	A	21	21	PDE5A	A	2	2
SLC25A31	83447	broad.mit.edu	37	4	128685444	128685444	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128685444G>T	uc003ifl.2	+	3	553	c.407G>T	c.(406-408)GGG>GTG	p.G136V		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	136	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	128685444	128685444	14992	4	G	T	T	43	43	SLC25A31	T	2	2
UCP1	7350	broad.mit.edu	37	4	141484553	141484553	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141484553C>A	uc011chj.1	-	3	521	c.445G>T	c.(445-447)GGA>TGA	p.G149*	UCP1_uc011chk.1_Nonsense_Mutation_p.G148*	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	149	Solcar 2.				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---	capture		Nonsense_Mutation	SNP	141484553	141484553	17488	4	C	A	A	23	23	UCP1	A	5	1
FSTL5	56884	broad.mit.edu	37	4	162307405	162307405	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162307405C>A	uc003iqh.2	-	16	2474	c.2038G>T	c.(2038-2040)GAC>TAC	p.D680Y	FSTL5_uc003iqi.2_Missense_Mutation_p.D679Y|FSTL5_uc010iqv.2_Missense_Mutation_p.D670Y|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	680						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)														---	---	---	---	capture		Missense_Mutation	SNP	162307405	162307405	6331	4	C	A	A	30	30	FSTL5	A	2	2
CDKN2AIP	55602	broad.mit.edu	37	4	184367326	184367326	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184367326C>A	uc003ivp.1	+	3	651	c.489C>A	c.(487-489)GCC>GCA	p.A163A	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	163					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---	capture		Silent	SNP	184367326	184367326	3291	4	C	A	A	21	21	CDKN2AIP	A	2	2
FAT1	2195	broad.mit.edu	37	4	187539950	187539950	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187539950C>A	uc003izf.2	-	10	7978	c.7790G>T	c.(7789-7791)CGA>CTA	p.R2597L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2597	Extracellular (Potential).|Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---	capture		Missense_Mutation	SNP	187539950	187539950	5925	4	C	A	A	31	31	FAT1	A	1	1
FAT1	2195	broad.mit.edu	37	4	187541593	187541593	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187541593C>A	uc003izf.2	-	10	6335	c.6147G>T	c.(6145-6147)GTG>GTT	p.V2049V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2049	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---	capture		Silent	SNP	187541593	187541593	5925	4	C	A	A	21	21	FAT1	A	2	2
C5orf49	134121	broad.mit.edu	37	5	7832092	7832092	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7832092G>T	uc003jea.3	-	3	445	c.315C>A	c.(313-315)CGC>CGA	p.R105R		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	105											0																		---	---	---	---	capture		Silent	SNP	7832092	7832092	2406	5	G	T	T	46	46	C5orf49	T	2	2
DNAH5	1767	broad.mit.edu	37	5	13923453	13923453	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13923453C>A	uc003jfd.2	-	4	416	c.374G>T	c.(373-375)GGG>GTG	p.G125V	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	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	13923453	13923453	4787	5	C	A	A	22	22	DNAH5	A	2	2
HCN1	348980	broad.mit.edu	37	5	45396680	45396680	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45396680C>A	uc003jok.2	-	4	1169	c.1144G>T	c.(1144-1146)GGG>TGG	p.G382W		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	382	Helical; Name=Segment S6; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45396680	45396680	7278	5	C	A	A	23	23	HCN1	A	1	1
ERCC8	1161	broad.mit.edu	37	5	60194165	60194165	+	Missense_Mutation	SNP	G	T	T	rs141137570	by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:60194165G>T	uc003jsm.3	-	9	851	c.781C>A	c.(781-783)CTC>ATC	p.L261I	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.L203I|ERCC8_uc011cqp.1_Missense_Mutation_p.L108I	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	261	WD 4.				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)											Direct_reversal_of_damage|NER					---	---	---	---	capture		Missense_Mutation	SNP	60194165	60194165	5412	5	G	T	T	35	35	ERCC8	T	2	2
SLC30A5	64924	broad.mit.edu	37	5	68400543	68400543	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68400543G>T	uc003jvh.2	+	4	560	c.359G>T	c.(358-360)AGG>ATG	p.R120M	SLC30A5_uc003jvg.2_3'UTR|SLC30A5_uc011crc.1_RNA|SLC30A5_uc003jvi.2_Intron	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter),	120	Extracellular (Potential).				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)														---	---	---	---	capture		Missense_Mutation	SNP	68400543	68400543	15055	5	G	T	T	35	35	SLC30A5	T	2	2
BDP1	55814	broad.mit.edu	37	5	70757682	70757682	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70757682G>C	uc003kbp.1	+	3	791	c.528G>C	c.(526-528)CAG>CAC	p.Q176H	BDP1_uc003kbn.1_Missense_Mutation_p.Q176H|BDP1_uc003kbo.2_Missense_Mutation_p.Q176H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	176	Interaction with ZBTB43.|Potential.				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	70757682	70757682	1417	5	G	C	C	33	33	BDP1	C	3	3
POLK	51426	broad.mit.edu	37	5	74892392	74892392	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74892392C>A	uc003kdw.2	+	13	1970	c.1874C>A	c.(1873-1875)CCT>CAT	p.P625H	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.P427H|POLK_uc003kec.2_Missense_Mutation_p.P535H|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.P535H	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	625	UBZ-type 1.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---	capture		Missense_Mutation	SNP	74892392	74892392	12632	5	C	A	A	24	24	POLK	A	2	2
CMYA5	202333	broad.mit.edu	37	5	79025494	79025494	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79025494C>A	uc003kgc.2	+	2	978	c.906C>A	c.(904-906)CCC>CCA	p.P302P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	302						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	79025494	79025494	3728	5	C	A	A	24	24	CMYA5	A	2	2
THBS4	7060	broad.mit.edu	37	5	79335928	79335928	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79335928G>T	uc003kgh.2	+	3	440	c.117G>T	c.(115-117)CAG>CAT	p.Q39H		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	39	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)														---	---	---	---	capture		Missense_Mutation	SNP	79335928	79335928	16384	5	G	T	T	33	33	THBS4	T	2	2
SPZ1	84654	broad.mit.edu	37	5	79617057	79617057	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79617057C>A	uc003kgn.2	+	1	1268	c.1023C>A	c.(1021-1023)CTC>CTA	p.L341L	uc011ctk.1_RNA	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	341	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)														---	---	---	---	capture		Silent	SNP	79617057	79617057	15641	5	C	A	A	30	30	SPZ1	A	2	2
MSH3	4437	broad.mit.edu	37	5	80063922	80063922	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80063922C>A	uc003kgz.2	+	14	2320	c.2067C>A	c.(2065-2067)CTC>CTA	p.L689L		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	689					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)									MMR					---	---	---	---	capture		Silent	SNP	80063922	80063922	10264	5	C	A	A	29	29	MSH3	A	2	2
VCAN	1462	broad.mit.edu	37	5	82816290	82816290	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82816290C>A	uc003kii.3	+	7	2521	c.2165C>A	c.(2164-2166)TCT>TAT	p.S722Y	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S722Y|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	722	GAG-alpha (glucosaminoglycan attachment domain).				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	82816290	82816290	17703	5	C	A	A	32	32	VCAN	A	2	2
GPR98	84059	broad.mit.edu	37	5	90001286	90001286	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90001286G>T	uc003kju.2	+	37	8552	c.8456G>T	c.(8455-8457)AGT>ATT	p.S2819I	GPR98_uc003kjt.2_Missense_Mutation_p.S525I|GPR98_uc003kjv.2_Missense_Mutation_p.S419I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2819	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Missense_Mutation	SNP	90001286	90001286	6997	5	G	T	T	36	36	GPR98	T	2	2
PCSK1	5122	broad.mit.edu	37	5	95757591	95757591	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95757591C>A	uc003kls.1	-	5	819	c.613G>T	c.(613-615)GAG>TAG	p.E205*		NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	205	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Nonsense_Mutation	SNP	95757591	95757591	12020	5	C	A	A	31	31	PCSK1	A	5	1
CAST	831	broad.mit.edu	37	5	96076486	96076486	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96076486C>A	uc003klz.1	+	11	830	c.668C>A	c.(667-669)TCG>TAG	p.S223*	CAST_uc003klt.2_Intron|CAST_uc003klu.2_Nonsense_Mutation_p.S306*|CAST_uc003klv.2_Nonsense_Mutation_p.S284*|CAST_uc003klw.2_Nonsense_Mutation_p.S287*|CAST_uc003klx.2_Nonsense_Mutation_p.S265*|CAST_uc003kly.2_Intron|CAST_uc011cuo.1_Nonsense_Mutation_p.S269*|CAST_uc011cuq.1_Nonsense_Mutation_p.S71*|CAST_uc011cur.1_Nonsense_Mutation_p.S209*|CAST_uc011cus.1_Intron|CAST_uc003kma.1_Nonsense_Mutation_p.S182*|CAST_uc011cut.1_Nonsense_Mutation_p.S151*|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Nonsense_Mutation_p.S223*|CAST_uc003kmd.2_Nonsense_Mutation_p.S201*|CAST_uc003kme.2_Nonsense_Mutation_p.S182*|CAST_uc003kmf.2_Intron|CAST_uc003kmh.2_5'Flank|CAST_uc010jbj.2_5'Flank|CAST_uc010jbk.2_5'Flank|CAST_uc010jbl.1_5'Flank|CAST_uc003kmi.2_5'Flank|CAST_uc003kmj.2_5'Flank	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	223							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)														---	---	---	---	capture		Nonsense_Mutation	SNP	96076486	96076486	2803	5	C	A	A	31	31	CAST	A	5	1
RIOK2	55781	broad.mit.edu	37	5	96514862	96514862	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96514862G>T	uc003kmz.2	-	2	212	c.102C>A	c.(100-102)CCC>CCA	p.P34P	RIOK2_uc003kna.3_Silent_p.P34P	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	34							ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)														---	---	---	---	capture		Silent	SNP	96514862	96514862	13855	5	G	T	T	39	39	RIOK2	T	1	1
CHD1	1105	broad.mit.edu	37	5	98194017	98194017	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98194017G>T	uc003knf.2	-	34	4802	c.4654C>A	c.(4654-4656)CAG>AAG	p.Q1552K	CHD1_uc010jbn.2_Missense_Mutation_p.Q278K	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1552					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)													---	---	---	---	capture		Missense_Mutation	SNP	98194017	98194017	3457	5	G	T	T	45	45	CHD1	T	2	2
NUDT12	83594	broad.mit.edu	37	5	102894709	102894709	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102894709C>A	uc003koi.2	-	3	760	c.667G>T	c.(667-669)GGA>TGA	p.G223*	NUDT12_uc011cvb.1_Nonsense_Mutation_p.G205*	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	223						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)														---	---	---	---	capture		Nonsense_Mutation	SNP	102894709	102894709	11133	5	C	A	A	21	21	NUDT12	A	5	2
SNX2	6643	broad.mit.edu	37	5	122135423	122135423	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122135423G>T	uc003kte.2	+	3	312	c.263G>T	c.(262-264)AGG>ATG	p.R88M	SNX2_uc011cwn.1_Translation_Start_Site	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	88					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)														---	---	---	---	capture		Missense_Mutation	SNP	122135423	122135423	15391	5	G	T	T	35	35	SNX2	T	2	2
FAM13B	51306	broad.mit.edu	37	5	137346823	137346823	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137346823C>A	uc003lbz.2	-	6	1098	c.564G>T	c.(562-564)GTG>GTT	p.V188V	FAM13B_uc003lcb.2_Silent_p.V70V|FAM13B_uc003lca.2_Silent_p.V188V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	188	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0																		---	---	---	---	capture		Silent	SNP	137346823	137346823	5650	5	C	A	A	21	21	FAM13B	A	2	2
BRD8	10902	broad.mit.edu	37	5	137488247	137488247	+	Missense_Mutation	SNP	C	A	A	rs150159308		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137488247C>A	uc003lcf.1	-	21	2835	c.2780G>T	c.(2779-2781)GGG>GTG	p.G927V	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	927					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Missense_Mutation	SNP	137488247	137488247	1537	5	C	A	A	22	22	BRD8	A	2	2
FAM53C	51307	broad.mit.edu	37	5	137680874	137680874	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137680874G>T	uc003lcv.2	+	4	967	c.497G>T	c.(496-498)CGG>CTG	p.R166L	FAM53C_uc003lcw.2_Missense_Mutation_p.R166L|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	166										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---	capture		Missense_Mutation	SNP	137680874	137680874	5803	5	G	T	T	39	39	FAM53C	T	1	1
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139818072	139818072	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139818072G>T	uc003lfs.1	+	3	611	c.487G>T	c.(487-489)GGT>TGT	p.G163C	ANKHD1_uc003lfq.1_Missense_Mutation_p.G163C|ANKHD1_uc003lfr.2_Missense_Mutation_p.G163C|ANKHD1_uc003lfp.2_Intron|ANKHD1_uc003lfo.2_Missense_Mutation_p.G163C|ANKHD1_uc010jfk.2_Missense_Mutation_p.G163C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	163						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	139818072	139818072	632	5	G	T	T	47	47	ANKHD1-EIF4EBP3	T	2	2
HARS2	23438	broad.mit.edu	37	5	140073541	140073541	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140073541C>A	uc003lgx.2	+	3	421	c.205C>A	c.(205-207)CAG>AAG	p.Q69K	HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_5'UTR|HARS2_uc011czr.1_Missense_Mutation_p.Q44K|HARS2_uc011czs.1_5'UTR|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	69					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		Missense_Mutation	SNP	140073541	140073541	7242	5	C	A	A	29	29	HARS2	A	2	2
PCDHA3	56145	broad.mit.edu	37	5	140180986	140180986	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140180986C>A	uc003lhf.2	+	1	204	c.204C>A	c.(202-204)TCC>TCA	p.S68S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S68S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	68	Cadherin 1.|Extracellular (Potential).				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		Silent	SNP	140180986	140180986	11945	5	C	A	A	21	21	PCDHA3	A	2	2
PCDHB14	56122	broad.mit.edu	37	5	140604377	140604377	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140604377G>T	uc003ljb.2	+	1	1300	c.1300G>T	c.(1300-1302)GAG>TAG	p.E434*	PCDHB14_uc011dal.1_Nonsense_Mutation_p.E281*	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	434	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Nonsense_Mutation	SNP	140604377	140604377	11959	5	G	T	T	37	37	PCDHB14	T	5	1
PCDHGC4	56098	broad.mit.edu	37	5	140866446	140866446	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140866446G>T	uc003lky.1	+	1	1706	c.1706G>T	c.(1705-1707)CGG>CTG	p.R569L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R569L|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	569	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140866446	140866446	11990	5	G	T	T	39	39	PCDHGC4	T	1	1
ARAP3	64411	broad.mit.edu	37	5	141041717	141041717	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141041717C>A	uc003llm.2	-	20	2984	c.2906G>T	c.(2905-2907)GGG>GTG	p.G969V	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.G631V|ARAP3_uc003lln.2_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	969	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	141041717	141041717	851	5	C	A	A	22	22	ARAP3	A	2	2
TCERG1	10915	broad.mit.edu	37	5	145836769	145836769	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145836769C>A	uc003lob.2	+	3	349	c.309C>A	c.(307-309)CCC>CCA	p.P103P	TCERG1_uc003loc.2_Silent_p.P103P|TCERG1_uc011dbt.1_Silent_p.P103P	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	103	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Silent	SNP	145836769	145836769	16211	5	C	A	A	21	21	TCERG1	A	2	2
SLU7	10569	broad.mit.edu	37	5	159841435	159841435	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159841435C>A	uc003lyg.2	-	3	370	c.215G>T	c.(214-216)TGG>TTG	p.W72L	SLU7_uc003lyh.1_Missense_Mutation_p.W72L|SLU7_uc003lyi.1_Missense_Mutation_p.W72L	NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	72					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	159841435	159841435	15253	5	C	A	A	21	21	SLU7	A	2	2
GABRA1	2554	broad.mit.edu	37	5	161281215	161281215	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161281215C>T	uc010jiw.2	+	4	594	c.126C>T	c.(124-126)TTC>TTT	p.F42F	GABRA1_uc010jix.2_Silent_p.F42F|GABRA1_uc010jiy.2_Silent_p.F42F|GABRA1_uc003lyx.3_Silent_p.F42F|GABRA1_uc010jiz.2_Silent_p.F42F|GABRA1_uc010jja.2_Silent_p.F42F|GABRA1_uc010jjb.2_Silent_p.F42F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	42	Extracellular (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			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)													---	---	---	---	capture		Silent	SNP	161281215	161281215	6411	5	C	T	T	29	29	GABRA1	T	2	2
GABRG2	2566	broad.mit.edu	37	5	161569272	161569272	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161569272G>T	uc003lyz.3	+	7	1230	c.872G>T	c.(871-873)TGG>TTG	p.W291L	GABRG2_uc010jjc.2_Missense_Mutation_p.W331L|GABRG2_uc003lyy.3_Missense_Mutation_p.W291L|GABRG2_uc011dej.1_Missense_Mutation_p.W196L	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	291	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---	capture		Missense_Mutation	SNP	161569272	161569272	6423	5	G	T	T	47	47	GABRG2	T	2	2
ODZ2	57451	broad.mit.edu	37	5	167630837	167630837	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167630837G>T	uc010jjd.2	+	18	3547	c.3547G>T	c.(3547-3549)GGA>TGA	p.G1183*	ODZ2_uc003lzr.3_Nonsense_Mutation_p.G960*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.G556*|ODZ2_uc010jje.2_Nonsense_Mutation_p.G454*	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---	capture		Nonsense_Mutation	SNP	167630837	167630837	11240	5	G	T	T	47	47	ODZ2	T	5	2
DRD1	1812	broad.mit.edu	37	5	174869505	174869505	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:174869505C>A	uc003mcz.2	-	2	1543	c.598G>T	c.(598-600)GTA>TTA	p.V200L		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	200	Helical; Name=5; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)													---	---	---	---	capture		Missense_Mutation	SNP	174869505	174869505	4940	5	C	A	A	17	17	DRD1	A	2	2
DRD1	1812	broad.mit.edu	37	5	174869735	174869735	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:174869735C>A	uc003mcz.2	-	2	1313	c.368G>T	c.(367-369)TGG>TTG	p.W123L		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	123	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)													---	---	---	---	capture		Missense_Mutation	SNP	174869735	174869735	4940	5	C	A	A	21	21	DRD1	A	2	2
F12	2161	broad.mit.edu	37	5	176830259	176830259	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176830259G>T	uc003mgo.3	-	12	1576	c.1527C>A	c.(1525-1527)TTC>TTA	p.F509L	PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Nonsense_Mutation_p.S40*|F12_uc003mgn.3_Nonsense_Mutation_p.S40*|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	509	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											Hereditary_Angioedema				---	---	---	---	capture		Missense_Mutation	SNP	176830259	176830259	5533	5	G	T	T	37	37	F12	T	1	1
FLT4	2324	broad.mit.edu	37	5	180040110	180040110	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180040110C>A	uc003mma.3	-	25	3411	c.3332G>T	c.(3331-3333)GGG>GTG	p.G1111V	FLT4_uc003mlz.3_Missense_Mutation_p.G1111V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1111	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---	capture		Missense_Mutation	SNP	180040110	180040110	6186	5	C	A	A	22	22	FLT4	A	2	2
MGAT1	4245	broad.mit.edu	37	5	180219363	180219363	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180219363G>T	uc003mmg.3	-	2	1104	c.609C>A	c.(607-609)CCC>CCA	p.P203P	MGAT1_uc010jlf.2_Silent_p.P203P|MGAT1_uc010jlg.2_Silent_p.P203P|MGAT1_uc003mmh.3_Silent_p.P203P|MGAT1_uc010jlh.2_Silent_p.P203P|MGAT1_uc003mmi.3_Silent_p.P203P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	203	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Silent	SNP	180219363	180219363	9932	5	G	T	T	39	39	MGAT1	T	1	1
BTNL8	79908	broad.mit.edu	37	5	180335891	180335891	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180335891C>A	uc003mmp.2	+	2	589	c.355C>A	c.(355-357)CAG>AAG	p.Q119K	BTNL8_uc003mmq.2_Missense_Mutation_p.Q119K|BTNL8_uc011dhg.1_Intron|BTNL8_uc010jll.2_Missense_Mutation_p.Q119K|BTNL8_uc010jlm.2_Intron|BTNL8_uc011dhh.1_5'Flank	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	119	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	180335891	180335891	1601	5	C	A	A	21	21	BTNL8	A	2	2
EXOC2	55770	broad.mit.edu	37	6	562806	562806	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:562806T>A	uc003mtd.2	-	17	1963	c.1829A>T	c.(1828-1830)GAC>GTC	p.D610V	EXOC2_uc003mte.2_Missense_Mutation_p.D610V|EXOC2_uc011dho.1_Missense_Mutation_p.D205V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	610					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---	capture		Missense_Mutation	SNP	562806	562806	5495	6	T	A	A	58	58	EXOC2	A	4	4
PRPF4B	8899	broad.mit.edu	37	6	4031871	4031871	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4031871C>A	uc003mvv.2	+	2	211	c.120C>A	c.(118-120)CAC>CAA	p.H40Q	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	40	His-rich.|Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---	capture		Missense_Mutation	SNP	4031871	4031871	13016	6	C	A	A	17	17	PRPF4B	A	2	2
PRPF4B	8899	broad.mit.edu	37	6	4032230	4032230	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4032230C>A	uc003mvv.2	+	2	570	c.479C>A	c.(478-480)TCT>TAT	p.S160Y	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	160	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---	capture		Missense_Mutation	SNP	4032230	4032230	13016	6	C	A	A	32	32	PRPF4B	A	2	2
MAK	4117	broad.mit.edu	37	6	10804065	10804065	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10804065C>A	uc003mzl.2	-	6	780	c.551G>T	c.(550-552)TGG>TTG	p.W184L	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.W184L|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	184	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)																---	---	---	---	capture		Missense_Mutation	SNP	10804065	10804065	9580	6	C	A	A	21	21	MAK	A	2	2
HIVEP1	3096	broad.mit.edu	37	6	12122673	12122673	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12122673G>T	uc003nac.2	+	4	2824	c.2645G>T	c.(2644-2646)GGA>GTA	p.G882V	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	882					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)																---	---	---	---	capture		Missense_Mutation	SNP	12122673	12122673	7477	6	G	T	T	41	41	HIVEP1	T	2	2
CDKAL1	54901	broad.mit.edu	37	6	20546711	20546711	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20546711C>A	uc003ndc.1	+	3	304	c.130C>A	c.(130-132)CAA>AAA	p.Q44K	CDKAL1_uc003ndd.1_Missense_Mutation_p.Q44K|CDKAL1_uc003nde.1_Silent_p.P11P|CDKAL1_uc010jpo.1_Missense_Mutation_p.Q44K|CDKAL1_uc003ndb.1_Missense_Mutation_p.Q44K	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	44					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)															---	---	---	---	capture		Missense_Mutation	SNP	20546711	20546711	3281	6	C	A	A	21	21	CDKAL1	A	2	2
MRS2	57380	broad.mit.edu	37	6	24423172	24423172	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24423172G>A	uc003neb.2	+	10	1237	c.1115G>A	c.(1114-1116)AGA>AAA	p.R372K	MRS2_uc003nea.2_Missense_Mutation_p.R372K|MRS2_uc011djl.1_Missense_Mutation_p.R375K|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.R322K|MRS2_uc003nec.2_Missense_Mutation_p.R249K	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	372	Mitochondrial intermembrane (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	24423172	24423172	10244	6	G	A	A	33	33	MRS2	A	2	2
TDP2	51567	broad.mit.edu	37	6	24653342	24653342	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24653342G>T	uc003nej.2	-	6	701	c.676C>A	c.(676-678)CAT>AAT	p.H226N	TDP2_uc003nei.2_Missense_Mutation_p.H114N|TDP2_uc010jpu.1_Missense_Mutation_p.H226N	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	226					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---	capture		Missense_Mutation	SNP	24653342	24653342	16255	6	G	T	T	47	47	TDP2	T	2	2
BTN1A1	696	broad.mit.edu	37	6	26506973	26506973	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26506973G>T	uc003nif.3	+	4	792	c.772G>T	c.(772-774)GGA>TGA	p.G258*		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	258	Helical; (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	26506973	26506973	1593	6	G	T	T	35	35	BTN1A1	T	5	2
GPX6	257202	broad.mit.edu	37	6	28472238	28472238	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28472238G>T	uc011dlj.1	-	6	547	c.497C>A	c.(496-498)TCA>TAA	p.S166*	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	166					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)													---	---	---	---	capture		Nonsense_Mutation	SNP	28472238	28472238	7020	6	G	T	T	45	45	GPX6	T	5	2
OR2B3	442184	broad.mit.edu	37	6	29054191	29054191	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29054191C>A	uc003nlx.2	-	1	900	c.835G>T	c.(835-837)GGA>TGA	p.G279*		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	29054191	29054191	11396	6	C	A	A	21	21	OR2B3	A	5	2
OR12D2	26529	broad.mit.edu	37	6	29365200	29365200	+	Missense_Mutation	SNP	T	A	A	rs61742210		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29365200T>A	uc003nmf.3	+	1	785	c.724T>A	c.(724-726)TCC>ACC	p.S242T		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	29365200	29365200	11337	6	T	A	A	54	54	OR12D2	A	4	4
ZFP57	346171	broad.mit.edu	37	6	29640398	29640398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29640398C>T	uc011dlw.1	-	4	1641	c.1490G>A	c.(1489-1491)TGG>TAG	p.W497*	ZFP57_uc003nnl.3_Nonsense_Mutation_p.W477*	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	413					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	29640398	29640398	18239	6	C	T	T	21	21	ZFP57	T	5	2
PPP1R10	5514	broad.mit.edu	37	6	30570143	30570143	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30570143C>A	uc003nqn.1	-	19	2835	c.2283G>T	c.(2281-2283)ATG>ATT	p.M761I	PPP1R10_uc010jsc.1_Missense_Mutation_p.M415I	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	761	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30570143	30570143	12787	6	C	A	A	21	21	PPP1R10	A	2	2
MDC1	9656	broad.mit.edu	37	6	30672302	30672302	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30672302G>A	uc003nrg.3	-	10	5098	c.4658C>T	c.(4657-4659)TCT>TTT	p.S1553F	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1160F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1553	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Missense_Mutation	SNP	30672302	30672302	9792	6	G	A	A	33	33	MDC1	A	2	2
LST1	7940	broad.mit.edu	37	6	31556510	31556510	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31556510G>T	uc003num.2	+	5	572	c.350G>T	c.(349-351)AGC>ATC	p.S117I	LST1_uc003nun.2_3'UTR|LST1_uc003nuo.2_Missense_Mutation_p.S62I|LST1_uc003nup.2_3'UTR|LST1_uc003nuq.2_Missense_Mutation_p.S72I|LST1_uc010jsx.2_RNA|LST1_uc003nuu.2_RNA|LST1_uc003nut.2_RNA|LST1_uc010jsw.2_Missense_Mutation_p.S108I	NM_007161	NP_009092	O00453	LST1_HUMAN	leukocyte specific transcript 1 isoform 1	Error:Variant_position_missing_in_O00453_after_alignment					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31556510	31556510	9443	6	G	T	T	34	34	LST1	T	2	2
PPT2	9374	broad.mit.edu	37	6	32130605	32130605	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32130605G>T	uc003nzx.2	+	9	1355	c.787G>T	c.(787-789)GGG>TGG	p.G263W	PPT2_uc003nzw.2_Missense_Mutation_p.G269W|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_Intron|PPT2_uc003nzz.2_Missense_Mutation_p.G263W|PPT2_uc003oaa.2_Missense_Mutation_p.G263W|PPT2_uc010jtu.1_Intron|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	263					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	32130605	32130605	12848	6	G	T	T	47	47	PPT2	T	2	2
B3GALT4	8705	broad.mit.edu	37	6	33245953	33245953	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33245953C>A	uc003odr.2	+	1	1037	c.757C>A	c.(757-759)CAC>AAC	p.H253N		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	253	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	33245953	33245953	1270	6	C	A	A	29	29	B3GALT4	A	2	2
WDR46	9277	broad.mit.edu	37	6	33256583	33256583	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33256583C>A	uc003ods.2	-	2	321	c.277G>T	c.(277-279)GGG>TGG	p.G93W	WDR46_uc011dra.1_Missense_Mutation_p.G39W|WDR46_uc010juo.1_5'Flank|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	93											0																		---	---	---	---	capture		Missense_Mutation	SNP	33256583	33256583	17872	6	C	A	A	23	23	WDR46	A	1	1
ANKS1A	23294	broad.mit.edu	37	6	34937797	34937797	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34937797G>T	uc003ojx.3	+	3	431	c.289G>T	c.(289-291)GAG>TAG	p.E97*	ANKS1A_uc011dss.1_Nonsense_Mutation_p.E97*|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_RNA|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	97	ANK 1.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	34937797	34937797	696	6	G	T	T	37	37	ANKS1A	T	5	1
TCP11	6954	broad.mit.edu	37	6	35088735	35088735	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35088735G>T	uc003okd.2	-	6	886	c.705C>A	c.(703-705)TCC>TCA	p.S235S	TCP11_uc003ojz.1_Silent_p.S160S|TCP11_uc003oka.2_Silent_p.S160S|TCP11_uc003okb.2_Silent_p.S159S|TCP11_uc003okc.2_Silent_p.S159S|TCP11_uc011dsu.1_Silent_p.S217S|TCP11_uc011dsv.1_Silent_p.S184S|TCP11_uc011dsw.1_Silent_p.S189S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	222					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5																		---	---	---	---	capture		Silent	SNP	35088735	35088735	16239	6	G	T	T	47	47	TCP11	T	2	2
DNAH8	1769	broad.mit.edu	37	6	38819390	38819390	+	Silent	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38819390T>C	uc003ooe.1	+	37	5355	c.4755T>C	c.(4753-4755)TTT>TTC	p.F1585F		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Silent	SNP	38819390	38819390	4790	6	T	C	C	63	63	DNAH8	C	4	4
DNAH8	1769	broad.mit.edu	37	6	38851097	38851097	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38851097G>T	uc003ooe.1	+	53	7951	c.7351_splice	c.e53-1	p.A2451_splice		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Splice_Site	SNP	38851097	38851097	4790	6	G	T	T	35	35	DNAH8	T	5	2
DNAH8	1769	broad.mit.edu	37	6	38919198	38919198	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38919198G>T	uc003ooe.1	+	80	12302	c.11702G>T	c.(11701-11703)TGG>TTG	p.W3901L	DNAH8_uc003oog.1_Missense_Mutation_p.W350L|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	38919198	38919198	4790	6	G	T	T	47	47	DNAH8	T	2	2
C6orf154	221424	broad.mit.edu	37	6	43476556	43476556	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43476556C>A	uc003ovk.1	-	2	1276	c.375G>T	c.(373-375)CTG>CTT	p.L125L	C6orf154_uc003ovj.1_5'UTR	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	125	LRR 3.										0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---	capture		Silent	SNP	43476556	43476556	2443	6	C	A	A	21	21	C6orf154	A	2	2
SPATS1	221409	broad.mit.edu	37	6	44328258	44328258	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44328258C>A	uc003oxk.2	+	3	710	c.363C>A	c.(361-363)GTC>GTA	p.V121V	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Silent_p.V6V	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	121										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---	capture		Silent	SNP	44328258	44328258	15528	6	C	A	A	30	30	SPATS1	A	2	2
PLA2G7	7941	broad.mit.edu	37	6	46672348	46672348	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46672348G>T	uc010jzf.2	-	12	1544	c.1275C>A	c.(1273-1275)ACC>ACA	p.T425T		NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	425					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)															---	---	---	---	capture		Silent	SNP	46672348	46672348	12435	6	G	T	T	47	47	PLA2G7	T	2	2
MUT	4594	broad.mit.edu	37	6	49407971	49407971	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49407971G>T	uc003ozg.3	-	11	2159	c.1904C>A	c.(1903-1905)GCT>GAT	p.A635D		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	635	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	49407971	49407971	10385	6	G	T	T	34	34	MUT	T	2	2
CRISP2	7180	broad.mit.edu	37	6	49667574	49667574	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49667574G>T	uc003ozq.2	-	6	470	c.214C>A	c.(214-216)CAA>AAA	p.Q72K	CRISP2_uc003ozl.2_Missense_Mutation_p.Q72K|CRISP2_uc003ozn.2_Missense_Mutation_p.Q72K|CRISP2_uc003ozr.2_Missense_Mutation_p.Q72K|CRISP2_uc003ozo.2_Missense_Mutation_p.Q72K|CRISP2_uc003ozm.2_Missense_Mutation_p.Q72K|CRISP2_uc003ozp.2_Missense_Mutation_p.Q72K	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	72						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---	capture		Missense_Mutation	SNP	49667574	49667574	4019	6	G	T	T	47	47	CRISP2	T	2	2
CRISP3	10321	broad.mit.edu	37	6	49700998	49700998	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49700998C>A	uc003ozs.2	-	6	446	c.431G>T	c.(430-432)TGG>TTG	p.W144L		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	144					innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---	capture		Missense_Mutation	SNP	49700998	49700998	4020	6	C	A	A	21	21	CRISP3	A	2	2
PKHD1	5314	broad.mit.edu	37	6	51503701	51503701	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51503701C>A	uc003pah.1	-	64	11728	c.11452G>T	c.(11452-11454)GTC>TTC	p.V3818F		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3818	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51503701	51503701	12396	6	C	A	A	20	20	PKHD1	A	2	2
PKHD1	5314	broad.mit.edu	37	6	51732720	51732720	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51732720C>A	uc003pah.1	-	48	7950	c.7674G>T	c.(7672-7674)CGG>CGT	p.R2558R	PKHD1_uc010jzn.1_Silent_p.R541R|PKHD1_uc003pai.2_Silent_p.R2558R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2558	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Silent	SNP	51732720	51732720	12396	6	C	A	A	22	22	PKHD1	A	2	2
EFHC1	114327	broad.mit.edu	37	6	52303306	52303306	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52303306C>A	uc003pap.3	+	3	705	c.490C>A	c.(490-492)CAT>AAT	p.H164N	EFHC1_uc011dwv.1_Missense_Mutation_p.H73N|EFHC1_uc011dww.1_Missense_Mutation_p.H145N	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	164	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)																	---	---	---	---	capture		Missense_Mutation	SNP	52303306	52303306	5134	6	C	A	A	21	21	EFHC1	A	2	2
ZNF451	26036	broad.mit.edu	37	6	56997877	56997877	+	Missense_Mutation	SNP	T	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56997877T>G	uc003pdm.1	+	6	686	c.462T>G	c.(460-462)AGT>AGG	p.S154R	ZNF451_uc003pdl.2_Missense_Mutation_p.S154R|ZNF451_uc003pdn.1_Missense_Mutation_p.S154R|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S154R	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---	capture		Missense_Mutation	SNP	56997877	56997877	18515	6	T	G	G	60	60	ZNF451	G	4	4
LGSN	51557	broad.mit.edu	37	6	63990650	63990650	+	Missense_Mutation	SNP	G	C	C	rs150005648		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63990650G>C	uc003peh.2	-	4	840	c.806C>G	c.(805-807)TCT>TGT	p.S269C	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	269					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	63990650	63990650	9085	6	G	C	C	33	33	LGSN	C	3	3
BAI3	577	broad.mit.edu	37	6	69944957	69944957	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69944957C>A	uc003pev.3	+	19	3089	c.2641C>A	c.(2641-2643)CTA>ATA	p.L881I	BAI3_uc010kak.2_Missense_Mutation_p.L881I|BAI3_uc011dxx.1_Missense_Mutation_p.L87I|BAI3_uc003pex.1_Missense_Mutation_p.L11I	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	881	Helical; Name=1; (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	69944957	69944957	1321	6	C	A	A	24	24	BAI3	A	2	2
COL19A1	1310	broad.mit.edu	37	6	70894801	70894801	+	Silent	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70894801A>G	uc003pfc.1	+	46	2967	c.2850A>G	c.(2848-2850)GGA>GGG	p.G950G		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	950	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---	capture		Silent	SNP	70894801	70894801	3814	6	A	G	G	11	11	COL19A1	G	4	4
FILIP1	27145	broad.mit.edu	37	6	76022793	76022793	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76022793C>A	uc003pia.2	-	5	3128	c.2755G>T	c.(2755-2757)GAG>TAG	p.E919*	FILIP1_uc003phy.1_Nonsense_Mutation_p.E919*|FILIP1_uc003phz.2_Nonsense_Mutation_p.E820*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E922*|FILIP1_uc003pib.1_Nonsense_Mutation_p.E671*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	919										skin(3)|ovary(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	76022793	76022793	6132	6	C	A	A	31	31	FILIP1	A	5	1
IMPG1	3617	broad.mit.edu	37	6	76660389	76660389	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76660389C>G	uc003pik.1	-	13	1844	c.1714G>C	c.(1714-1716)GAG>CAG	p.E572Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	572	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---	capture		Missense_Mutation	SNP	76660389	76660389	8029	6	C	G	G	32	32	IMPG1	G	3	3
HTR1B	3351	broad.mit.edu	37	6	78172620	78172620	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:78172620C>A	uc003pil.1	-	1	501	c.501G>T	c.(499-501)GCG>GCT	p.A167A		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	167	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)													---	---	---	---	capture		Silent	SNP	78172620	78172620	7737	6	C	A	A	23	23	HTR1B	A	1	1
PHIP	55023	broad.mit.edu	37	6	79650528	79650528	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79650528G>T	uc003pir.2	-	40	5574	c.5348C>A	c.(5347-5349)TCT>TAT	p.S1783Y	PHIP_uc003piq.2_Missense_Mutation_p.S807Y|PHIP_uc011dyp.1_Missense_Mutation_p.S1782Y|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.S669Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1783					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)														---	---	---	---	capture		Missense_Mutation	SNP	79650528	79650528	12266	6	G	T	T	33	33	PHIP	T	2	2
LCA5	167691	broad.mit.edu	37	6	80223406	80223406	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80223406C>A	uc003pix.2	-	3	678	c.243G>T	c.(241-243)GTG>GTT	p.V81V	LCA5_uc003piy.2_Silent_p.V81V|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.V81V	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	81					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)														---	---	---	---	capture		Silent	SNP	80223406	80223406	8979	6	C	A	A	21	21	LCA5	A	2	2
NT5E	4907	broad.mit.edu	37	6	86201765	86201765	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86201765C>A	uc003pko.3	+	8	1987	c.1431C>A	c.(1429-1431)ACC>ACA	p.T477T	NT5E_uc010kbr.2_Silent_p.T427T	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	477					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)													---	---	---	---	capture		Silent	SNP	86201765	86201765	11098	6	C	A	A	21	21	NT5E	A	2	2
ORC3L	23595	broad.mit.edu	37	6	88304070	88304070	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88304070G>T	uc003pmh.2	+	2	69	c.25_splice	c.e2-1	p.G9_splice	ORC3L_uc011dzl.1_Splice_Site_p.G9_splice|ORC3L_uc011dzm.1_Splice_Site_p.G9_splice|ORC3L_uc011dzn.1_Splice_Site|ORC3L_uc003pmg.2_Splice_Site_p.G9_splice|ORC3L_uc003pmi.2_Splice_Site_p.G9_splice|ORC3L_uc011dzo.1_Splice_Site|ORC3L_uc011dzp.1_Splice_Site	NM_012381	NP_036513			origin recognition complex, subunit 3 isoform 2						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)														---	---	---	---	capture		Splice_Site	SNP	88304070	88304070	11674	6	G	T	T	35	35	ORC3L	T	5	2
RNGTT	8732	broad.mit.edu	37	6	89673080	89673080	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89673080C>A	uc003pmr.2	-	1	269	c.49G>T	c.(49-51)GGC>TGC	p.G17C	RNGTT_uc003pms.2_Missense_Mutation_p.G17C|RNGTT_uc011dzu.1_5'UTR|RNGTT_uc003pmt.2_Missense_Mutation_p.G17C	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	17	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)														---	---	---	---	capture		Missense_Mutation	SNP	89673080	89673080	13982	6	C	A	A	23	23	RNGTT	A	1	1
MDN1	23195	broad.mit.edu	37	6	90371226	90371226	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90371226C>A	uc003pnn.1	-	88	14753	c.14637G>T	c.(14635-14637)TTG>TTT	p.L4879F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4879					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	90371226	90371226	9804	6	C	A	A	21	21	MDN1	A	2	2
POPDC3	64208	broad.mit.edu	37	6	105609377	105609377	+	Silent	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105609377A>T	uc003prb.2	-	2	810	c.408T>A	c.(406-408)GTT>GTA	p.V136V	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	136						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)																---	---	---	---	capture		Silent	SNP	105609377	105609377	12685	6	A	T	T	13	13	POPDC3	T	4	4
SOBP	55084	broad.mit.edu	37	6	107908319	107908319	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107908319C>A	uc003prx.2	+	5	1113	c.609C>A	c.(607-609)CCC>CCA	p.P203P	SOBP_uc003prw.1_Silent_p.P203P	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	203							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)														---	---	---	---	capture		Silent	SNP	107908319	107908319	15412	6	C	A	A	22	22	SOBP	A	2	2
SCML4	256380	broad.mit.edu	37	6	108067950	108067950	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108067950G>C	uc010kdf.2	-	4	681	c.430C>G	c.(430-432)CAG>GAG	p.Q144E	SCML4_uc003prz.3_Missense_Mutation_p.Q86E|SCML4_uc011eam.1_Missense_Mutation_p.Q144E|SCML4_uc003psa.3_Missense_Mutation_p.Q115E	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)														---	---	---	---	capture		Missense_Mutation	SNP	108067950	108067950	14393	6	G	C	C	47	47	SCML4	C	3	3
SEC63	11231	broad.mit.edu	37	6	108214800	108214800	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108214800G>T	uc003psc.3	-	16	1829	c.1560C>A	c.(1558-1560)CCC>CCA	p.P520P	SEC63_uc003psb.3_Silent_p.P380P	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	520	SEC63 1.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---	capture		Silent	SNP	108214800	108214800	14491	6	G	T	T	47	47	SEC63	T	2	2
C6orf182	285753	broad.mit.edu	37	6	109475039	109475039	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109475039C>A	uc010kdk.2	+	7	1043	c.466C>A	c.(466-468)CAG>AAG	p.Q156K	C6orf182_uc003psv.3_Missense_Mutation_p.Q140K|C6orf182_uc003psw.3_Missense_Mutation_p.Q156K|C6orf182_uc003psx.3_Missense_Mutation_p.Q156K|C6orf182_uc010kdl.2_Missense_Mutation_p.Q156K|C6orf182_uc003psy.3_Missense_Mutation_p.Q156K	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	156	Potential.					microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)														---	---	---	---	capture		Missense_Mutation	SNP	109475039	109475039	2451	6	C	A	A	21	21	C6orf182	A	2	2
LAMA4	3910	broad.mit.edu	37	6	112471822	112471822	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112471822A>T	uc003pvu.2	-	17	2373	c.2064T>A	c.(2062-2064)GAT>GAA	p.D688E	LAMA4_uc003pvv.2_Missense_Mutation_p.D681E|LAMA4_uc003pvt.2_Missense_Mutation_p.D681E	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	688	Domain II and I.|Potential.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)														---	---	---	---	capture		Missense_Mutation	SNP	112471822	112471822	8931	6	A	T	T	8	8	LAMA4	T	4	4
ASF1A	25842	broad.mit.edu	37	6	119222018	119222018	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119222018C>A	uc011ebn.1	+	2	534	c.197C>A	c.(196-198)CCC>CAC	p.P66H		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	66	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)														---	---	---	---	capture		Missense_Mutation	SNP	119222018	119222018	1056	6	C	A	A	22	22	ASF1A	A	2	2
HSF2	3298	broad.mit.edu	37	6	122743330	122743330	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:122743330G>T	uc003pyu.2	+	8	904	c.717G>T	c.(715-717)AGG>AGT	p.R239S	HSF2_uc003pyv.2_Missense_Mutation_p.R239S	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	239					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)														---	---	---	---	capture		Missense_Mutation	SNP	122743330	122743330	7691	6	G	T	T	43	43	HSF2	T	2	2
ARHGAP18	93663	broad.mit.edu	37	6	129959562	129959562	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129959562G>T	uc003qbr.2	-	3	618	c.529C>A	c.(529-531)CAA>AAA	p.Q177K	ARHGAP18_uc011ebw.1_Missense_Mutation_p.Q177K	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	177					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	129959562	129959562	879	6	G	T	T	45	45	ARHGAP18	T	2	2
ENPP1	5167	broad.mit.edu	37	6	132171156	132171156	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132171156G>T	uc011ecf.1	+	3	360	c.340G>T	c.(340-342)GAG>TAG	p.E114*		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	114	SMB 1.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---	capture		Nonsense_Mutation	SNP	132171156	132171156	5322	6	G	T	T	37	37	ENPP1	T	5	1
ENPP1	5167	broad.mit.edu	37	6	132203589	132203589	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132203589G>T	uc011ecf.1	+	21	2225	c.2205G>T	c.(2203-2205)GTG>GTT	p.V735V		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	735	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---	capture		Silent	SNP	132203589	132203589	5322	6	G	T	T	45	45	ENPP1	T	2	2
PDE7B	27115	broad.mit.edu	37	6	136502408	136502408	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136502408G>T	uc003qgp.2	+	11	1295	c.992G>T	c.(991-993)TGG>TTG	p.W331L	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.W383L	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	331	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---	capture		Missense_Mutation	SNP	136502408	136502408	12073	6	G	T	T	47	47	PDE7B	T	2	2
BCLAF1	9774	broad.mit.edu	37	6	136597355	136597355	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136597355G>T	uc003qgx.1	-	5	1561	c.1308C>A	c.(1306-1308)CTC>CTA	p.L436L	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.L434L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L434L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	436					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---	capture		Silent	SNP	136597355	136597355	1404	6	G	T	T	45	45	BCLAF1	T	2	2
MAP3K5	4217	broad.mit.edu	37	6	136932471	136932471	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136932471C>A	uc003qhc.2	-	18	2831	c.2470G>T	c.(2470-2472)GGA>TGA	p.G824*	MAP3K5_uc011edj.1_Nonsense_Mutation_p.G71*|MAP3K5_uc011edk.1_Nonsense_Mutation_p.G669*	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	824	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)														---	---	---	---	capture		Nonsense_Mutation	SNP	136932471	136932471	9636	6	C	A	A	23	23	MAP3K5	A	5	1
HEBP2	23593	broad.mit.edu	37	6	138727204	138727204	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138727204C>A	uc003qhw.1	+	3	632	c.335C>A	c.(334-336)CCC>CAC	p.P112H		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	112						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)														---	---	---	---	capture		Missense_Mutation	SNP	138727204	138727204	7320	6	C	A	A	22	22	HEBP2	A	2	2
HIVEP2	3097	broad.mit.edu	37	6	143093065	143093065	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143093065G>T	uc003qjd.2	-	5	3554	c.2811C>A	c.(2809-2811)CCC>CCA	p.P937P		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	937	Nuclear localization signal (Potential).				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		Silent	SNP	143093065	143093065	7478	6	G	T	T	47	47	HIVEP2	T	2	2
STXBP5	134957	broad.mit.edu	37	6	147588257	147588257	+	Missense_Mutation	SNP	G	T	T	rs111341385		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147588257G>T	uc003qlz.2	+	7	829	c.668G>T	c.(667-669)TGG>TTG	p.W223L	STXBP5_uc010khz.1_Missense_Mutation_p.W223L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	223	WD 4.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---	capture		Missense_Mutation	SNP	147588257	147588257	15876	6	G	T	T	47	47	STXBP5	T	2	2
SASH1	23328	broad.mit.edu	37	6	148865881	148865881	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865881A>T	uc003qme.1	+	18	3750	c.3275A>T	c.(3274-3276)GAT>GTT	p.D1092V	SASH1_uc011eeb.1_Missense_Mutation_p.D853V|SASH1_uc003qmf.1_Missense_Mutation_p.D502V	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1092							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---	capture		Missense_Mutation	SNP	148865881	148865881	14329	6	A	T	T	12	12	SASH1	T	4	4
ULBP3	79465	broad.mit.edu	37	6	150385786	150385786	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150385786C>A	uc003qns.3	-	4	692	c.692G>T	c.(691-693)TGG>TTG	p.W231L	ULBP3_uc011eej.1_Missense_Mutation_p.W106L	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3 precursor	231					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity				0		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)														---	---	---	---	capture		Missense_Mutation	SNP	150385786	150385786	17532	6	C	A	A	21	21	ULBP3	A	2	2
C6orf97	80129	broad.mit.edu	37	6	151894542	151894542	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151894542C>A	uc003qol.2	+	6	1097	c.1008C>A	c.(1006-1008)GGC>GGA	p.G336G		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	336											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---	capture		Silent	SNP	151894542	151894542	2481	6	C	A	A	25	25	C6orf97	A	2	2
OPRM1	4988	broad.mit.edu	37	6	154412160	154412160	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154412160C>A	uc003qpr.2	+	3	954	c.717C>A	c.(715-717)TTC>TTA	p.F239L	OPRM1_uc011efc.1_Missense_Mutation_p.F158L|OPRM1_uc011efd.1_Missense_Mutation_p.F139L|OPRM1_uc011efe.1_Missense_Mutation_p.F332L|OPRM1_uc003qpn.2_Missense_Mutation_p.F239L|OPRM1_uc003qpo.1_Missense_Mutation_p.F239L|OPRM1_uc011eff.1_Missense_Mutation_p.F239L|OPRM1_uc011efg.1_Missense_Mutation_p.F239L|OPRM1_uc011efh.1_Missense_Mutation_p.F239L|OPRM1_uc003qpq.1_Missense_Mutation_p.F239L|OPRM1_uc003qpt.1_Missense_Mutation_p.F239L|OPRM1_uc011efi.1_Missense_Mutation_p.F239L|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.F139L|OPRM1_uc003qpu.2_Missense_Mutation_p.F139L	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	239	Helical; Name=5; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)													---	---	---	---	capture		Missense_Mutation	SNP	154412160	154412160	11293	6	C	A	A	29	29	OPRM1	A	2	2
LPA	4018	broad.mit.edu	37	6	161012070	161012070	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161012070C>A	uc003qtl.2	-	24	3813	c.3693G>T	c.(3691-3693)ATG>ATT	p.M1231I		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3739	Kringle 33.				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		Missense_Mutation	SNP	161012070	161012070	9276	6	C	A	A	21	21	LPA	A	2	2
MAP3K4	4216	broad.mit.edu	37	6	161513173	161513173	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161513173C>A	uc003qtn.2	+	13	3409	c.3267C>A	c.(3265-3267)CCC>CCA	p.P1089P	MAP3K4_uc010kkc.1_Silent_p.P1089P|MAP3K4_uc003qto.2_Silent_p.P1089P|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.P542P|MAP3K4_uc003qtp.2_Silent_p.P79P	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1089					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)														---	---	---	---	capture		Silent	SNP	161513173	161513173	9635	6	C	A	A	21	21	MAP3K4	A	2	2
QKI	9444	broad.mit.edu	37	6	163836265	163836265	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:163836265A>T	uc003qui.2	+	1	591	c.40A>T	c.(40-42)ACC>TCC	p.T14S	QKI_uc003que.2_Missense_Mutation_p.T14S|QKI_uc003quf.2_Missense_Mutation_p.T14S|QKI_uc003qug.2_Missense_Mutation_p.T14S|QKI_uc003quh.2_Missense_Mutation_p.T14S|QKI_uc003quj.2_Missense_Mutation_p.T14S	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	14					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)														---	---	---	---	capture		Missense_Mutation	SNP	163836265	163836265	13331	6	A	T	T	6	6	QKI	T	4	4
TNRC18	84629	broad.mit.edu	37	7	5353184	5353184	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5353184C>A	uc003soi.3	-	27	7687	c.7338G>T	c.(7336-7338)TCG>TCT	p.S2446S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2446							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---	capture		Silent	SNP	5353184	5353184	16880	7	C	A	A	23	23	TNRC18	A	1	1
TNRC18	84629	broad.mit.edu	37	7	5391687	5391687	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5391687C>A	uc003soi.3	-	17	5582	c.5233G>T	c.(5233-5235)GAG>TAG	p.E1745*	TNRC18_uc003soj.2_Nonsense_Mutation_p.E127*	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1745							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---	capture		Nonsense_Mutation	SNP	5391687	5391687	16880	7	C	A	A	31	31	TNRC18	A	5	1
TNRC18	84629	broad.mit.edu	37	7	5399106	5399106	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5399106G>T	uc003soi.3	-	15	5105	c.4756C>A	c.(4756-4758)CTC>ATC	p.L1586I	TNRC18_uc003soj.2_5'Flank	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1586							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---	capture		Missense_Mutation	SNP	5399106	5399106	16880	7	G	T	T	35	35	TNRC18	T	2	2
RSPH10B2	728194	broad.mit.edu	37	7	5968009	5968009	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5968009G>T	uc003sph.1	-	20	2521	c.2250C>A	c.(2248-2250)CCC>CCA	p.P750P	RSPH10B2_uc003spg.1_Silent_p.P597P|RSPH10B2_uc010ktd.1_Silent_p.P750P|RSPH10B2_uc011jwk.1_Missense_Mutation_p.P372Q	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	750										ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	5968009	5968009	14184	7	G	T	T	47	47	RSPH10B2	T	2	2
MIOS	54468	broad.mit.edu	37	7	7628158	7628158	+	Silent	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7628158A>G	uc003srf.2	+	8	2156	c.1848A>G	c.(1846-1848)AGA>AGG	p.R616R	MIOS_uc003srg.2_Silent_p.R151R|MIOS_uc010ktq.2_Missense_Mutation_p.E14G	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	616											0																		---	---	---	---	capture		Silent	SNP	7628158	7628158	9979	7	A	G	G	11	11	MIOS	G	4	4
THSD7A	221981	broad.mit.edu	37	7	11485769	11485769	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11485769C>A	uc003ssf.3	-	13	3235	c.2983G>T	c.(2983-2985)GGA>TGA	p.G995*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	995	TSP type-1 10.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---	capture		Nonsense_Mutation	SNP	11485769	11485769	16407	7	C	A	A	23	23	THSD7A	A	5	1
ETV1	2115	broad.mit.edu	37	7	13949310	13949310	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:13949310T>C	uc011jxq.1	-	11	1626	c.887A>G	c.(886-888)AAG>AGG	p.K296R	ETV1_uc011jxn.1_Missense_Mutation_p.K256R|ETV1_uc011jxo.1_Missense_Mutation_p.K193R|ETV1_uc011jxp.1_Missense_Mutation_p.K238R|ETV1_uc003ssw.3_Missense_Mutation_p.K273R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.K278R|ETV1_uc011jxs.1_Missense_Mutation_p.K278R|ETV1_uc010ktv.2_Missense_Mutation_p.R165G	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	296					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35								T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								---	---	---	---	capture		Missense_Mutation	SNP	13949310	13949310	5470	7	T	C	C	56	56	ETV1	C	4	4
TMEM195	392636	broad.mit.edu	37	7	15427143	15427143	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15427143C>A	uc003stb.1	-	9	1015	c.845G>T	c.(844-846)TGG>TTG	p.W282L		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	282					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15427143	15427143	16652	7	C	A	A	21	21	TMEM195	A	2	2
HDAC9	9734	broad.mit.edu	37	7	18688187	18688187	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18688187A>G	uc003suh.2	+	10	1380	c.1339A>G	c.(1339-1341)AAC>GAC	p.N447D	HDAC9_uc003sue.2_Missense_Mutation_p.N447D|HDAC9_uc011jyd.1_Missense_Mutation_p.N447D|HDAC9_uc003sui.2_Missense_Mutation_p.N450D|HDAC9_uc003suj.2_Missense_Mutation_p.N406D|HDAC9_uc011jya.1_Missense_Mutation_p.N444D|HDAC9_uc003sua.1_Missense_Mutation_p.N425D|HDAC9_uc011jyb.1_Missense_Mutation_p.N403D|HDAC9_uc003sud.1_Missense_Mutation_p.N447D|HDAC9_uc011jyc.1_Missense_Mutation_p.N406D|HDAC9_uc003suf.1_Missense_Mutation_p.N478D|HDAC9_uc010kud.1_Missense_Mutation_p.N450D|HDAC9_uc011jye.1_Missense_Mutation_p.N419D|HDAC9_uc011jyf.1_Missense_Mutation_p.N370D|HDAC9_uc010kue.1_Missense_Mutation_p.N190D	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	447					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)													---	---	---	---	capture		Missense_Mutation	SNP	18688187	18688187	7297	7	A	G	G	9	9	HDAC9	G	4	4
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20683155C>A	uc010kuh.2	+	7	815	c.578C>A	c.(577-579)TCG>TAG	p.S193*		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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		Nonsense_Mutation	SNP	20683155	20683155	45	7	C	A	A	31	31	ABCB5	A	5	1
IL6	3569	broad.mit.edu	37	7	22767125	22767125	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:22767125G>T	uc011jyn.1	+	3	541	c.82G>T	c.(82-84)GCC>TCC	p.A28S	uc010kun.1_Intron|IL6_uc011jyo.1_Missense_Mutation_p.A28S|IL6_uc011jyp.1_Intron|IL6_uc003svj.3_Missense_Mutation_p.A28S|IL6_uc011jyq.1_Missense_Mutation_p.A82S	NM_000600	NP_000591	P05231	IL6_HUMAN	interleukin 6 precursor	28					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding				0					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	22767125	22767125	8002	7	G	T	T	46	46	IL6	T	2	2
GPNMB	10457	broad.mit.edu	37	7	23296619	23296619	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23296619G>T	uc003swc.2	+	4	637	c.476G>T	c.(475-477)GGG>GTG	p.G159V	GPNMB_uc003swa.2_Missense_Mutation_p.G159V|GPNMB_uc003swb.2_Missense_Mutation_p.G159V|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.G60V	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	159	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	23296619	23296619	6894	7	G	T	T	43	43	GPNMB	T	2	2
STK31	56164	broad.mit.edu	37	7	23794014	23794014	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23794014C>A	uc003sws.3	+	10	1281	c.1214C>A	c.(1213-1215)CCA>CAA	p.P405Q	STK31_uc003swt.3_Missense_Mutation_p.P382Q|STK31_uc011jze.1_Missense_Mutation_p.P405Q|STK31_uc010kuq.2_Missense_Mutation_p.P382Q	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	405							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	23794014	23794014	15816	7	C	A	A	21	21	STK31	A	2	2
HOXA6	3203	broad.mit.edu	37	7	27187272	27187272	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27187272C>T	uc003syo.1	-	1	97	c.97G>A	c.(97-99)GAC>AAC	p.D33N	uc003syp.1_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	27187272	27187272	7588	7	C	T	T	29	29	HOXA6	T	2	2
TAX1BP1	8887	broad.mit.edu	37	7	27868362	27868362	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27868362G>T	uc003szl.2	+	17	2442	c.2284G>T	c.(2284-2286)GAG>TAG	p.E762*	TAX1BP1_uc011jzo.1_Nonsense_Mutation_p.E720*|TAX1BP1_uc003szk.2_Nonsense_Mutation_p.E720*|TAX1BP1_uc011jzp.1_Nonsense_Mutation_p.E563*	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	762					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)															---	---	---	---	capture		Nonsense_Mutation	SNP	27868362	27868362	16116	7	G	T	T	37	37	TAX1BP1	T	5	1
FAM188B	84182	broad.mit.edu	37	7	30830841	30830841	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30830841C>A	uc003tbt.2	+	5	801	c.724C>A	c.(724-726)CAA>AAA	p.Q242K	FAM188B_uc010kwe.2_Missense_Mutation_p.Q213K	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	242											0																		---	---	---	---	capture		Missense_Mutation	SNP	30830841	30830841	5725	7	C	A	A	21	21	FAM188B	A	2	2
NEUROD6	63974	broad.mit.edu	37	7	31378807	31378807	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31378807C>A	uc003tch.2	-	2	429	c.76G>T	c.(76-78)GAG>TAG	p.E26*		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	26					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	31378807	31378807	10751	7	C	A	A	31	31	NEUROD6	A	5	1
NPSR1	387129	broad.mit.edu	37	7	34724182	34724182	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34724182C>A	uc003teg.1	+	2	294	c.166C>A	c.(166-168)CTG>ATG	p.L56M	AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L56M|NPSR1_uc010kwt.1_Translation_Start_Site|NPSR1_uc010kwu.1_Translation_Start_Site|NPSR1_uc010kwv.1_Missense_Mutation_p.L56M|NPSR1_uc003tei.1_Missense_Mutation_p.L56M|NPSR1_uc010kww.1_Missense_Mutation_p.L56M|NPSR1_uc011kar.1_Missense_Mutation_p.L56M	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	56	Helical; Name=1; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)													---	---	---	---	capture		Missense_Mutation	SNP	34724182	34724182	11005	7	C	A	A	32	32	NPSR1	A	2	2
ANLN	54443	broad.mit.edu	37	7	36455406	36455406	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36455406G>T	uc003tff.2	+	8	1639	c.1435G>T	c.(1435-1437)GGT>TGT	p.G479C	ANLN_uc011kaz.1_Missense_Mutation_p.G391C|ANLN_uc003tfg.2_Missense_Mutation_p.G479C|ANLN_uc010kxe.2_Missense_Mutation_p.G479C	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	479	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	36455406	36455406	702	7	G	T	T	35	35	ANLN	T	2	2
SFRP4	6424	broad.mit.edu	37	7	37951810	37951810	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37951810T>A	uc003tfo.3	-	4	1088	c.702A>T	c.(700-702)CAA>CAT	p.Q234H		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	234	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	37951810	37951810	14652	7	T	A	A	56	56	SFRP4	A	4	4
STARD3NL	83930	broad.mit.edu	37	7	38256824	38256824	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38256824C>A	uc003tfr.2	+	6	619	c.471C>A	c.(469-471)CCC>CCA	p.P157P	STARD3NL_uc003tfs.2_Silent_p.P157P|STARD3NL_uc003tft.2_Silent_p.P139P	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	157	MENTAL.|Helical; (Potential).					integral to membrane|late endosome membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	38256824	38256824	15777	7	C	A	A	21	21	STARD3NL	A	2	2
AMPH	273	broad.mit.edu	37	7	38502670	38502670	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38502670C>A	uc003tgu.2	-	10	862	c.793G>T	c.(793-795)GAG>TAG	p.E265*	AMPH_uc003tgv.2_Nonsense_Mutation_p.E265*|AMPH_uc003tgt.2_Nonsense_Mutation_p.E18*	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	265					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	38502670	38502670	591	7	C	A	A	29	29	AMPH	A	5	2
VPS41	27072	broad.mit.edu	37	7	38783135	38783135	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38783135C>A	uc003tgy.2	-	24	2015	c.1989G>T	c.(1987-1989)ATG>ATT	p.M663I	VPS41_uc003tgz.2_Missense_Mutation_p.M638I|VPS41_uc010kxn.2_Missense_Mutation_p.M574I|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	663	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	38783135	38783135	17777	7	C	A	A	21	21	VPS41	A	2	2
VPS41	27072	broad.mit.edu	37	7	38869888	38869888	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38869888C>A	uc003tgy.2	-	5	313	c.287G>T	c.(286-288)GGA>GTA	p.G96V	VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Missense_Mutation_p.G96V	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	96					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	38869888	38869888	17777	7	C	A	A	30	30	VPS41	A	2	2
NPC1L1	29881	broad.mit.edu	37	7	44556514	44556514	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44556514C>A	uc003tlb.2	-	17	3444	c.3388G>T	c.(3388-3390)GAG>TAG	p.E1130*	NPC1L1_uc003tlc.2_Nonsense_Mutation_p.E1103*|NPC1L1_uc011kbw.1_Nonsense_Mutation_p.E1057*|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1130	Cytoplasmic (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		Nonsense_Mutation	SNP	44556514	44556514	10975	7	C	A	A	29	29	NPC1L1	A	5	2
POM121L12	285877	broad.mit.edu	37	7	53103589	53103589	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53103589C>T	uc003tpz.2	+	1	241	c.225C>T	c.(223-225)ACC>ACT	p.T75T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	75											0																		---	---	---	---	capture		Silent	SNP	53103589	53103589	12669	7	C	T	T	22	22	POM121L12	T	2	2
POM121L12	285877	broad.mit.edu	37	7	53103999	53103999	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53103999C>A	uc003tpz.2	+	1	651	c.635C>A	c.(634-636)CCC>CAC	p.P212H		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	212											0																		---	---	---	---	capture		Missense_Mutation	SNP	53103999	53103999	12669	7	C	A	A	22	22	POM121L12	A	2	2
SUMF2	25870	broad.mit.edu	37	7	56141875	56141875	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56141875C>A	uc003trv.2	+	4	436	c.405C>A	c.(403-405)CTC>CTA	p.L135L	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.L135L|SUMF2_uc011kcx.1_Silent_p.L135L|SUMF2_uc003trt.2_Silent_p.L28L|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	116						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)													OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	56141875	56141875	15906	7	C	A	A	32	32	SUMF2	A	2	2
FKBP6	8468	broad.mit.edu	37	7	72754819	72754819	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72754819C>T	uc003tya.2	+	6	900	c.768C>T	c.(766-768)CTC>CTT	p.L256L	FKBP6_uc003twz.2_Silent_p.L226L|FKBP6_uc011kew.1_Silent_p.L251L|FKBP6_uc010lbe.1_RNA	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	256	TPR 3.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---	capture		Silent	SNP	72754819	72754819	6150	7	C	T	T	32	32	FKBP6	T	2	2
PCLO	27445	broad.mit.edu	37	7	82545331	82545331	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82545331C>A	uc003uhx.2	-	7	12260	c.11971G>T	c.(11971-11973)GTT>TTT	p.V3991F	PCLO_uc003uhv.2_Missense_Mutation_p.V3991F|PCLO_uc010lec.2_Missense_Mutation_p.V956F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3922					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	82545331	82545331	12003	7	C	A	A	17	17	PCLO	A	2	2
SEMA3A	10371	broad.mit.edu	37	7	83689810	83689810	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83689810G>T	uc003uhz.2	-	5	833	c.518C>A	c.(517-519)CCT>CAT	p.P173H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	173	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	83689810	83689810	14510	7	G	T	T	35	35	SEMA3A	T	2	2
ABCB4	5244	broad.mit.edu	37	7	87076452	87076452	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87076452C>A	uc003uiv.1	-	9	979	c.903G>T	c.(901-903)ATG>ATT	p.M301I	ABCB4_uc003uiw.1_Missense_Mutation_p.M301I|ABCB4_uc003uix.1_Missense_Mutation_p.M301I	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	301	Helical; (By similarity).|ABC transmembrane type-1 1.		M -> T (in GBD1).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)																	---	---	---	---	capture		Missense_Mutation	SNP	87076452	87076452	44	7	C	A	A	21	21	ABCB4	A	2	2
ABCB4	5244	broad.mit.edu	37	7	87081012	87081012	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87081012C>G	uc003uiv.1	-	7	711	c.635G>C	c.(634-636)AGA>ACA	p.R212T	ABCB4_uc003uiw.1_Missense_Mutation_p.R212T|ABCB4_uc003uix.1_Missense_Mutation_p.R212T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	212	ABC transmembrane type-1 1.|Extracellular (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)																	---	---	---	---	capture		Missense_Mutation	SNP	87081012	87081012	44	7	C	G	G	32	32	ABCB4	G	3	3
ZNF804B	219578	broad.mit.edu	37	7	88965209	88965209	+	Silent	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88965209C>T	uc011khi.1	+	4	3451	c.2913C>T	c.(2911-2913)GGC>GGT	p.G971G		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---	capture		Silent	SNP	88965209	88965209	18769	7	C	T	T	28	28	ZNF804B	T	2	2
C7orf63	79846	broad.mit.edu	37	7	89887459	89887459	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89887459G>T	uc010lep.2	+	3	479	c.228G>T	c.(226-228)CAG>CAT	p.Q76H	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.Q76H|C7orf63_uc010leo.2_Missense_Mutation_p.Q76H	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	76							binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	89887459	89887459	2516	7	G	T	T	36	36	C7orf63	T	2	2
PEX1	5189	broad.mit.edu	37	7	92140260	92140260	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92140260G>T	uc003uly.2	-	8	1681	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K	PEX1_uc011khr.1_Missense_Mutation_p.Q321K|PEX1_uc010ley.2_Missense_Mutation_p.Q529K|PEX1_uc011khs.1_Missense_Mutation_p.Q207K|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	529					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)															---	---	---	---	capture		Missense_Mutation	SNP	92140260	92140260	12157	7	G	T	T	48	48	PEX1	T	2	2
LMTK2	22853	broad.mit.edu	37	7	97822171	97822171	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97822171C>A	uc003upd.1	+	11	2687	c.2394C>A	c.(2392-2394)CTC>CTA	p.L798L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	798					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)																	---	---	---	---	capture		Silent	SNP	97822171	97822171	9188	7	C	A	A	29	29	LMTK2	A	2	2
TRRAP	8295	broad.mit.edu	37	7	98601960	98601960	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98601960C>A	uc003upp.2	+	67	10624	c.10415C>A	c.(10414-10416)TCG>TAG	p.S3472*	TRRAP_uc011kis.1_Nonsense_Mutation_p.S3443*|TRRAP_uc003upr.2_Nonsense_Mutation_p.S3178*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3472					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		Nonsense_Mutation	SNP	98601960	98601960	17152	7	C	A	A	31	31	TRRAP	A	5	1
ZKSCAN5	23660	broad.mit.edu	37	7	99128838	99128838	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99128838C>A	uc003uqv.2	+	7	1610	c.1486C>A	c.(1486-1488)CAA>AAA	p.Q496K	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.Q496K|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.Q496K|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.Q423K|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.Q232K	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	496					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---	capture		Missense_Mutation	SNP	99128838	99128838	18281	7	C	A	A	29	29	ZKSCAN5	A	2	2
AZGP1	563	broad.mit.edu	37	7	99565936	99565936	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99565936G>T	uc003ush.2	-	3	499	c.455C>A	c.(454-456)CCA>CAA	p.P152Q		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	152					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)																	---	---	---	---	capture		Missense_Mutation	SNP	99565936	99565936	1260	7	G	T	T	47	47	AZGP1	T	2	2
PCOLCE	5118	broad.mit.edu	37	7	100201832	100201832	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100201832C>A	uc003uvo.2	+	3	653	c.455C>A	c.(454-456)TCG>TAG	p.S152*	uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Nonsense_Mutation_p.S152*|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	152					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Nonsense_Mutation	SNP	100201832	100201832	12014	7	C	A	A	31	31	PCOLCE	A	5	1
SLC12A9	56996	broad.mit.edu	37	7	100457574	100457574	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100457574G>T	uc003uwp.2	+	8	1187	c.1045G>T	c.(1045-1047)GGA>TGA	p.G349*	SLC12A9_uc003uwq.2_Nonsense_Mutation_p.G260*|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Nonsense_Mutation_p.G85*|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Nonsense_Mutation_p.G85*|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	349	Helical; (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---	capture		Nonsense_Mutation	SNP	100457574	100457574	14885	7	G	T	T	39	39	SLC12A9	T	5	1
MUC17	140453	broad.mit.edu	37	7	100681823	100681823	+	Missense_Mutation	SNP	G	C	C	rs147490705	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100681823G>C	uc003uxp.1	+	3	7179	c.7126G>C	c.(7126-7128)GGT>CGT	p.G2376R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2376	Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.					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	100681823	100681823	10368	7	G	C	C	39	39	MUC17	C	3	3
PLOD3	8985	broad.mit.edu	37	7	100855549	100855549	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100855549G>T	uc003uyd.2	-	10	1568	c.1112C>A	c.(1111-1113)GCC>GAC	p.A371D	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	371					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Missense_Mutation	SNP	100855549	100855549	12529	7	G	T	T	42	42	PLOD3	T	2	2
SLC26A5	375611	broad.mit.edu	37	7	103030879	103030879	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103030879G>T	uc003vbz.2	-	12	1544	c.1308C>A	c.(1306-1308)CCC>CCA	p.P436P	SLC26A5_uc003vbt.1_Silent_p.P436P|SLC26A5_uc003vbu.1_Silent_p.P436P|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.P436P|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	436	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	103030879	103030879	15017	7	G	T	T	43	43	SLC26A5	T	2	2
PUS7	54517	broad.mit.edu	37	7	105135669	105135669	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105135669C>A	uc003vcx.2	-	6	981	c.762G>T	c.(760-762)AGG>AGT	p.R254S	PUS7_uc010lji.2_Missense_Mutation_p.R260S|PUS7_uc003vcy.2_Missense_Mutation_p.R254S|PUS7_uc003vcz.1_Missense_Mutation_p.R254S	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	254					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	105135669	105135669	13291	7	C	A	A	22	22	PUS7	A	2	2
SPAM1	6677	broad.mit.edu	37	7	123593690	123593690	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123593690G>A	uc003vld.2	+	4	468	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	SPAM1_uc003vle.2_Silent_p.Q22Q|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.Q22Q|SPAM1_uc010lku.2_Silent_p.Q22Q	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	22					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)													---	---	---	---	capture		Silent	SNP	123593690	123593690	15489	7	G	A	A	33	33	SPAM1	A	2	2
LRRC4	64101	broad.mit.edu	37	7	127668824	127668824	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127668824C>A	uc003vmk.2	-	2	2007	c.1870G>T	c.(1870-1872)GGG>TGG	p.G624W	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	624	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	127668824	127668824	9372	7	C	A	A	22	22	LRRC4	A	2	2
CALU	813	broad.mit.edu	37	7	128399070	128399070	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128399070C>A	uc003vns.2	+	4	713	c.561C>A	c.(559-561)TAC>TAA	p.Y187*	CALU_uc003vnq.2_Nonsense_Mutation_p.Y187*|CALU_uc003vnr.2_Nonsense_Mutation_p.Y187*	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	187					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	128399070	128399070	2711	7	C	A	A	17	17	CALU	A	5	2
KLHDC10	23008	broad.mit.edu	37	7	129769365	129769365	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129769365C>A	uc003vpj.1	+	9	1203	c.1068C>A	c.(1066-1068)CTC>CTA	p.L356L	KLHDC10_uc003vpk.1_Silent_p.L327L|KLHDC10_uc010lmb.1_Silent_p.L253L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	356	Kelch 5.										0																		---	---	---	---	capture		Silent	SNP	129769365	129769365	8667	7	C	A	A	30	30	KLHDC10	A	2	2
PLXNA4	91584	broad.mit.edu	37	7	131848963	131848963	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131848963C>T	uc003vra.3	-	24	4667	c.4438G>A	c.(4438-4440)GAG>AAG	p.E1480K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1480	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	131848963	131848963	12548	7	C	T	T	31	31	PLXNA4	T	1	1
TBXAS1	6916	broad.mit.edu	37	7	139611111	139611111	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139611111C>A	uc011kqv.1	+	4	491	c.327C>A	c.(325-327)ACC>ACA	p.T109T	TBXAS1_uc003vvh.2_Silent_p.T109T|TBXAS1_uc010lne.2_Silent_p.T41T|TBXAS1_uc011kqu.1_Silent_p.T60T|TBXAS1_uc003vvi.2_Silent_p.T109T|TBXAS1_uc003vvj.2_Silent_p.T109T|TBXAS1_uc011kqw.1_Silent_p.T89T|TBXAS1_uc011kqx.1_Silent_p.T109T	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	108	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)																	---	---	---	---	capture		Silent	SNP	139611111	139611111	16190	7	C	A	A	21	21	TBXAS1	A	2	2
ADCK2	90956	broad.mit.edu	37	7	140373931	140373931	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140373931C>A	uc003vvy.1	+	1	979	c.801C>A	c.(799-801)CTC>CTA	p.L267L	ADCK2_uc003vvz.2_Silent_p.L267L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)																	---	---	---	---	capture		Silent	SNP	140373931	140373931	290	7	C	A	A	31	31	ADCK2	A	1	1
AGK	55750	broad.mit.edu	37	7	141341086	141341086	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141341086G>T	uc003vwi.2	+	12	936	c.765G>T	c.(763-765)ACG>ACT	p.T255T	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	255					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)																	---	---	---	---	capture		Silent	SNP	141341086	141341086	386	7	G	T	T	39	39	AGK	T	1	1
WEE2	494551	broad.mit.edu	37	7	141408871	141408871	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141408871C>A	uc003vwn.2	+	1	719	c.313C>A	c.(313-315)CTG>ATG	p.L105M	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	105					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)																	---	---	---	---	capture		Missense_Mutation	SNP	141408871	141408871	17919	7	C	A	A	28	28	WEE2	A	2	2
CNTNAP2	26047	broad.mit.edu	37	7	146818203	146818203	+	Missense_Mutation	SNP	T	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:146818203T>G	uc003weu.1	+	6	1403	c.887T>G	c.(886-888)ATG>AGG	p.M296R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	296	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---	capture		Missense_Mutation	SNP	146818203	146818203	3785	7	T	G	G	51	51	CNTNAP2	G	4	4
CNTNAP2	26047	broad.mit.edu	37	7	147259238	147259238	+	Nonsense_Mutation	SNP	G	T	T	rs141064983	byFrequency	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147259238G>T	uc003weu.1	+	12	2302	c.1786G>T	c.(1786-1788)GAG>TAG	p.E596*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	596	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---	capture		Nonsense_Mutation	SNP	147259238	147259238	3785	7	G	T	T	37	37	CNTNAP2	T	5	1
CNTNAP2	26047	broad.mit.edu	37	7	147336352	147336352	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147336352G>T	uc003weu.1	+	13	2568	c.2052G>T	c.(2050-2052)CAG>CAT	p.Q684H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	684	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---	capture		Missense_Mutation	SNP	147336352	147336352	3785	7	G	T	T	36	36	CNTNAP2	T	2	2
GIMAP7	168537	broad.mit.edu	37	7	150217741	150217741	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150217741C>A	uc003whk.2	+	2	809	c.679C>A	c.(679-681)CAA>AAA	p.Q227K		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	227							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150217741	150217741	6652	7	C	A	A	21	21	GIMAP7	A	2	2
MLL3	58508	broad.mit.edu	37	7	151880108	151880108	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151880108G>T	uc003wla.2	-	35	5435	c.5216C>A	c.(5215-5217)CCT>CAT	p.P1739H	MLL3_uc003wkz.2_Missense_Mutation_p.P800H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1739	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---	capture		Missense_Mutation	SNP	151880108	151880108	10012	7	G	T	T	35	35	MLL3	T	2	2
RBM33	155435	broad.mit.edu	37	7	155567310	155567310	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155567310C>A	uc010lqk.1	+	17	3801	c.3433C>A	c.(3433-3435)CAC>AAC	p.H1145N	RBM33_uc003wmg.2_Missense_Mutation_p.H81N	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1145	RRM.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	155567310	155567310	13592	7	C	A	A	21	21	RBM33	A	2	2
ZNF596	169270	broad.mit.edu	37	8	193754	193754	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:193754C>A	uc003wot.2	+	4	460	c.172C>A	c.(172-174)CAA>AAA	p.Q58K	ZNF596_uc003wou.2_5'UTR|ZNF596_uc003wov.2_Missense_Mutation_p.Q58K|ZNF596_uc003wow.2_Missense_Mutation_p.Q58K	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)														---	---	---	---	capture		Missense_Mutation	SNP	193754	193754	18621	8	C	A	A	21	21	ZNF596	A	2	2
MCPH1	79648	broad.mit.edu	37	8	6289033	6289033	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6289033G>T	uc003wqi.2	+	4	315	c.247G>T	c.(247-249)GGA>TGA	p.G83*	MCPH1_uc003wqh.2_Nonsense_Mutation_p.G83*|MCPH1_uc011kwl.1_Nonsense_Mutation_p.G83*	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	83	BRCT 1.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---	capture		Nonsense_Mutation	SNP	6289033	6289033	9787	8	G	T	T	47	47	MCPH1	T	5	2
TNKS	8658	broad.mit.edu	37	8	9590860	9590860	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9590860G>T	uc003wss.2	+	15	2224	c.2219G>T	c.(2218-2220)GGG>GTG	p.G740V	TNKS_uc011kww.1_Missense_Mutation_p.G503V|TNKS_uc010lrt.1_5'Flank	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	740	ANK 11.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---	capture		Missense_Mutation	SNP	9590860	9590860	16860	8	G	T	T	43	43	TNKS	T	2	2
RP1L1	94137	broad.mit.edu	37	8	10466047	10466047	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466047G>T	uc003wtc.2	-	4	5790	c.5561C>A	c.(5560-5562)CCA>CAA	p.P1854Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1854					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---	capture		Missense_Mutation	SNP	10466047	10466047	14012	8	G	T	T	47	47	RP1L1	T	2	2
EFHA2	286097	broad.mit.edu	37	8	16921702	16921702	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16921702C>A	uc003wxd.2	+	2	533	c.491C>A	c.(490-492)ACT>AAT	p.T164N		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	164						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)														---	---	---	---	capture		Missense_Mutation	SNP	16921702	16921702	5132	8	C	A	A	20	20	EFHA2	A	2	2
NAT2	10	broad.mit.edu	37	8	18258273	18258273	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18258273G>T	uc003wyw.1	+	2	867	c.760G>T	c.(760-762)GAG>TAG	p.E254*		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	254					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)										Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---	capture		Nonsense_Mutation	SNP	18258273	18258273	10573	8	G	T	T	37	37	NAT2	T	5	1
EGR3	1960	broad.mit.edu	37	8	22548495	22548495	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22548495G>C	uc003xcm.1	-	2	1013	c.655C>G	c.(655-657)CGG>GGG	p.R219G	EGR3_uc011kzn.1_Missense_Mutation_p.R181G|EGR3_uc011kzo.1_Missense_Mutation_p.R165G	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	219					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)														---	---	---	---	capture		Missense_Mutation	SNP	22548495	22548495	5162	8	G	C	C	39	39	EGR3	C	3	3
NEFM	4741	broad.mit.edu	37	8	24771448	24771448	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771448G>T	uc003xed.3	+	1	175	c.142G>T	c.(142-144)GTG>TTG	p.V48L	NEFM_uc011lac.1_Missense_Mutation_p.V48L|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	48	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---	capture		Missense_Mutation	SNP	24771448	24771448	10715	8	G	T	T	40	40	NEFM	T	1	1
RBPMS	11030	broad.mit.edu	37	8	30332342	30332342	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30332342G>T	uc003xic.1	+	2	779	c.114G>T	c.(112-114)CGG>CGT	p.R38R	RBPMS_uc003xid.1_Silent_p.R38R|RBPMS_uc003xie.1_Silent_p.R38R|RBPMS_uc003xif.1_5'Flank|RBPMS_uc011lba.1_Silent_p.R38R|RBPMS_uc003xib.2_Silent_p.R38R|RBPMS_uc010lvh.1_5'UTR	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	38	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)														---	---	---	---	capture		Silent	SNP	30332342	30332342	13632	8	G	T	T	43	43	RBPMS	T	2	2
C8orf41	80185	broad.mit.edu	37	8	33369531	33369531	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33369531C>A	uc003xjl.3	-	1	1126	c.601G>T	c.(601-603)GGG>TGG	p.G201W	C8orf41_uc003xjk.3_Missense_Mutation_p.G201W|C8orf41_uc010lvv.2_Missense_Mutation_p.G201W|C8orf41_uc003xjm.3_Missense_Mutation_p.G201W|C8orf41_uc003xjn.1_Missense_Mutation_p.G201W	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	201							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	33369531	33369531	2537	8	C	A	A	24	24	C8orf41	A	2	2
GPR124	25960	broad.mit.edu	37	8	37697062	37697062	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37697062G>T	uc003xkj.2	+	16	2796	c.2433G>T	c.(2431-2433)TTG>TTT	p.L811F	GPR124_uc010lvy.2_Missense_Mutation_p.L594F	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	811	Helical; Name=2; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)															---	---	---	---	capture		Missense_Mutation	SNP	37697062	37697062	6912	8	G	T	T	48	48	GPR124	T	2	2
ADAM2	2515	broad.mit.edu	37	8	39627087	39627087	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39627087T>A	uc003xnj.2	-	12	1111	c.1036A>T	c.(1036-1038)AGT>TGT	p.S346C	ADAM2_uc003xnk.2_Missense_Mutation_p.S327C|ADAM2_uc011lck.1_Missense_Mutation_p.S346C|ADAM2_uc003xnl.2_Missense_Mutation_p.S220C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	346	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---	capture		Missense_Mutation	SNP	39627087	39627087	242	8	T	A	A	55	55	ADAM2	A	4	4
RP1	6101	broad.mit.edu	37	8	55539499	55539499	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55539499C>A	uc003xsd.1	+	4	3205	c.3057C>A	c.(3055-3057)CCC>CCA	p.P1019P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1019					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---	capture		Silent	SNP	55539499	55539499	14011	8	C	A	A	22	22	RP1	A	2	2
NKAIN3	286183	broad.mit.edu	37	8	63492131	63492131	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:63492131C>A	uc010lyq.1	+	2	220	c.88C>A	c.(88-90)CTT>ATT	p.L30I		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	30						integral to membrane|plasma membrane					0	Breast(64;0.127)	Lung NSC(129;0.187)																---	---	---	---	capture		Missense_Mutation	SNP	63492131	63492131	10838	8	C	A	A	24	24	NKAIN3	A	2	2
PDE7A	5150	broad.mit.edu	37	8	66639131	66639131	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66639131G>T	uc003xvq.2	-	9	911	c.899C>A	c.(898-900)TCA>TAA	p.S300*	PDE7A_uc003xvr.2_Nonsense_Mutation_p.S300*|PDE7A_uc003xvp.2_Nonsense_Mutation_p.S274*	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	300	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---	capture		Nonsense_Mutation	SNP	66639131	66639131	12072	8	G	T	T	45	45	PDE7A	T	5	2
COPS5	10987	broad.mit.edu	37	8	67963499	67963499	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67963499C>A	uc003xxe.2	-	6	1068	c.737G>T	c.(736-738)TGG>TTG	p.W246L	COPS5_uc003xxd.2_Missense_Mutation_p.W182L|COPS5_uc003xxf.2_Missense_Mutation_p.W291L|COPS5_uc010lyu.1_RNA|COPS5_uc010lyv.1_Missense_Mutation_p.W246L	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	246					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---	capture		Missense_Mutation	SNP	67963499	67963499	3874	8	C	A	A	21	21	COPS5	A	2	2
CSPP1	79848	broad.mit.edu	37	8	67998343	67998343	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67998343C>A	uc003xxi.2	+	4	440	c.409C>A	c.(409-411)CAG>AAG	p.Q137K	CSPP1_uc003xxg.1_Missense_Mutation_p.Q137K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.Q137K|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	137						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---	capture		Missense_Mutation	SNP	67998343	67998343	4103	8	C	A	A	29	29	CSPP1	A	2	2
TRAM1	23471	broad.mit.edu	37	8	71495456	71495456	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71495456G>A	uc003xyo.1	-	10	1164	c.994C>T	c.(994-996)CCA>TCA	p.P332S	TRAM1_uc011lfc.1_Missense_Mutation_p.P301S	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	332	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)															---	---	---	---	capture		Missense_Mutation	SNP	71495456	71495456	16995	8	G	A	A	44	44	TRAM1	A	2	2
TRPA1	8989	broad.mit.edu	37	8	72958840	72958840	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72958840C>A	uc003xza.2	-	17	2144	c.1969G>T	c.(1969-1971)GAG>TAG	p.E657*	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	657	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---	capture		Nonsense_Mutation	SNP	72958840	72958840	17128	8	C	A	A	31	31	TRPA1	A	5	1
RALYL	138046	broad.mit.edu	37	8	85441608	85441608	+	Missense_Mutation	SNP	T	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:85441608T>G	uc003ycq.3	+	3	468	c.52T>G	c.(52-54)TCC>GCC	p.S18A	RALYL_uc003ycr.3_Missense_Mutation_p.S18A|RALYL_uc003ycs.3_Missense_Mutation_p.S18A|RALYL_uc010lzy.2_Missense_Mutation_p.S18A|RALYL_uc003yct.3_Missense_Mutation_p.S31A	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	18							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	85441608	85441608	13480	8	T	G	G	58	58	RALYL	G	4	4
ATP6V0D2	245972	broad.mit.edu	37	8	87155174	87155174	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87155174C>A	uc003ydp.1	+	5	699	c.630C>A	c.(628-630)CCC>CCA	p.P210P		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	210					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0																		---	---	---	---	capture		Silent	SNP	87155174	87155174	1193	8	C	A	A	21	21	ATP6V0D2	A	2	2
POP1	10940	broad.mit.edu	37	8	99149137	99149137	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99149137C>A	uc003yij.3	+	9	1417	c.1317C>A	c.(1315-1317)TCC>TCA	p.S439S	POP1_uc011lgv.1_Silent_p.S439S|POP1_uc003yik.2_Silent_p.S439S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	439					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---	capture		Silent	SNP	99149137	99149137	12680	8	C	A	A	22	22	POP1	A	2	2
PABPC1	26986	broad.mit.edu	37	8	101721377	101721377	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101721377C>A	uc003yjs.1	-	9	1824	c.1320G>T	c.(1318-1320)CAG>CAT	p.Q440H	PABPC1_uc011lhc.1_Missense_Mutation_p.Q408H|PABPC1_uc011lhd.1_Missense_Mutation_p.Q395H|PABPC1_uc003yjt.1_Missense_Mutation_p.Q437H|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	440					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	101721377	101721377	11776	8	C	A	A	24	24	PABPC1	A	2	2
PABPC1	26986	broad.mit.edu	37	8	101724590	101724590	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101724590C>A	uc003yjs.1	-	7	1476	c.972G>T	c.(970-972)AAG>AAT	p.K324N	PABPC1_uc011lhc.1_Missense_Mutation_p.K292N|PABPC1_uc011lhd.1_Missense_Mutation_p.K279N|PABPC1_uc003yjt.1_Missense_Mutation_p.K321N|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	324	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	101724590	101724590	11776	8	C	A	A	24	24	PABPC1	A	2	2
UBR5	51366	broad.mit.edu	37	8	103359276	103359276	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103359276G>T	uc003ykr.1	-	6	464	c.431C>A	c.(430-432)TCT>TAT	p.S144Y	UBR5_uc003yks.1_Missense_Mutation_p.S144Y	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	144					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	103359276	103359276	17463	8	G	T	T	33	33	UBR5	T	2	2
FZD6	8323	broad.mit.edu	37	8	104330888	104330888	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104330888C>A	uc003ylh.2	+	3	532	c.248C>A	c.(247-249)CCA>CAA	p.P83Q	FZD6_uc003yli.2_Missense_Mutation_p.P83Q|FZD6_uc003ylj.2_Missense_Mutation_p.P83Q|FZD6_uc011lhn.1_Missense_Mutation_p.P49Q|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.P28Q	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	83	FZ.|Extracellular (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---	capture		Missense_Mutation	SNP	104330888	104330888	6385	8	C	A	A	21	21	FZD6	A	2	2
FZD6	8323	broad.mit.edu	37	8	104340586	104340586	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104340586G>T	uc003ylh.2	+	5	1767	c.1483G>T	c.(1483-1485)GGA>TGA	p.G495*	FZD6_uc003yli.2_Nonsense_Mutation_p.G495*|FZD6_uc003ylj.2_Nonsense_Mutation_p.G495*|FZD6_uc011lhn.1_Nonsense_Mutation_p.G461*|FZD6_uc011lho.1_Nonsense_Mutation_p.G190*|FZD6_uc011lhp.1_Nonsense_Mutation_p.G440*	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	495	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---	capture		Nonsense_Mutation	SNP	104340586	104340586	6385	8	G	T	T	47	47	FZD6	T	5	2
RIMS2	9699	broad.mit.edu	37	8	104897584	104897584	+	Missense_Mutation	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104897584A>G	uc003yls.2	+	2	332	c.91A>G	c.(91-93)AGA>GGA	p.R31G	RIMS2_uc003ylp.2_Missense_Mutation_p.R253G|RIMS2_uc003ylw.2_Missense_Mutation_p.R61G|RIMS2_uc003ylq.2_Missense_Mutation_p.R61G|RIMS2_uc003ylr.2_Missense_Mutation_p.R61G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	284					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	104897584	104897584	13845	8	A	G	G	3	3	RIMS2	G	4	4
ENY2	56943	broad.mit.edu	37	8	110355665	110355665	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110355665C>A	uc003ynd.2	+	5	323	c.261C>A	c.(259-261)CTC>CTA	p.L87L	ENY2_uc003ync.2_Silent_p.L82L	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	87					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)															---	---	---	---	capture		Silent	SNP	110355665	110355665	5339	8	C	A	A	30	30	ENY2	A	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110476645	110476645	+	Silent	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110476645A>T	uc003yne.2	+	49	7688	c.7584A>T	c.(7582-7584)ATA>ATT	p.I2528I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2528	PbH1 1.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---	capture		Silent	SNP	110476645	110476645	12397	8	A	T	T	15	15	PKHD1L1	T	4	4
PKHD1L1	93035	broad.mit.edu	37	8	110509432	110509432	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110509432C>A	uc003yne.2	+	65	10634	c.10530C>A	c.(10528-10530)GCC>GCA	p.A3510A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3510	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---	capture		Silent	SNP	110509432	110509432	12397	8	C	A	A	21	21	PKHD1L1	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113241017	113241017	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113241017A>C	uc003ynu.2	-	70	11091	c.10932T>G	c.(10930-10932)TTT>TTG	p.F3644L	CSMD3_uc003yns.2_Missense_Mutation_p.F2846L|CSMD3_uc003ynt.2_Missense_Mutation_p.F3604L|CSMD3_uc011lhx.1_Missense_Mutation_p.F3475L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3644	Helical; (Potential).					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	113241017	113241017	4087	8	A	C	C	5	5	CSMD3	C	4	4
CSMD3	114788	broad.mit.edu	37	8	113484930	113484930	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113484930C>A	uc003ynu.2	-	32	5444	c.5285G>T	c.(5284-5286)TGT>TTT	p.C1762F	CSMD3_uc003yns.2_Missense_Mutation_p.C1034F|CSMD3_uc003ynt.2_Missense_Mutation_p.C1722F|CSMD3_uc011lhx.1_Missense_Mutation_p.C1658F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1762	Extracellular (Potential).|CUB 10.					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	113484930	113484930	4087	8	C	A	A	17	17	CSMD3	A	2	2
SNTB1	6641	broad.mit.edu	37	8	121706103	121706103	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121706103G>T	uc010mdg.2	-	2	843	c.617C>A	c.(616-618)CCA>CAA	p.P206Q	SNTB1_uc003ype.2_Missense_Mutation_p.P206Q	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	206	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---	capture		Missense_Mutation	SNP	121706103	121706103	15372	8	G	T	T	47	47	SNTB1	T	2	2
FBXO32	114907	broad.mit.edu	37	8	124546943	124546943	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124546943C>A	uc003yqr.2	-	2	420	c.228G>T	c.(226-228)CAG>CAT	p.Q76H	FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.Q76H	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	76										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---	capture		Missense_Mutation	SNP	124546943	124546943	5979	8	C	A	A	20	20	FBXO32	A	2	2
TATDN1	83940	broad.mit.edu	37	8	125531059	125531059	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125531059C>A	uc003yrd.2	-	4	244	c.202G>T	c.(202-204)GGT>TGT	p.G68C	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Missense_Mutation_p.G21C|TATDN1_uc003yrf.2_Missense_Mutation_p.G68C	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	68						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---	capture		Missense_Mutation	SNP	125531059	125531059	16113	8	C	A	A	21	21	TATDN1	A	2	2
ZNF572	137209	broad.mit.edu	37	8	125989495	125989495	+	Missense_Mutation	SNP	C	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125989495C>G	uc003yrr.2	+	3	1140	c.985C>G	c.(985-987)CAA>GAA	p.Q329E		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	329	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)												HNSCC(60;0.17)			---	---	---	---	capture		Missense_Mutation	SNP	125989495	125989495	18599	8	C	G	G	29	29	ZNF572	G	3	3
COL22A1	169044	broad.mit.edu	37	8	139668172	139668172	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139668172G>T	uc003yvd.2	-	45	3748	c.3301C>A	c.(3301-3303)CTG>ATG	p.L1101M	COL22A1_uc011ljo.1_Missense_Mutation_p.L381M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1101	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	SNP	139668172	139668172	3819	8	G	T	T	36	36	COL22A1	T	2	2
GSDMD	79792	broad.mit.edu	37	8	144644930	144644930	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144644930G>A	uc010mfe.2	+	14	2014	c.1311G>A	c.(1309-1311)CCG>CCA	p.P437P	GSDMD_uc003yyf.2_Silent_p.P485P|GSDMD_uc003yyg.2_Silent_p.P437P|GSDMD_uc003yyh.2_Silent_p.P368P	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	437				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).							0																		---	---	---	---	capture		Silent	SNP	144644930	144644930	7099	8	G	A	A	39	39	GSDMD	A	1	1
ZNF623	9831	broad.mit.edu	37	8	144733436	144733436	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144733436G>T	uc003yzd.2	+	1	1483	c.1394G>T	c.(1393-1395)GGG>GTG	p.G465V	ZNF623_uc011lkp.1_Missense_Mutation_p.G425V|ZNF623_uc003yzc.2_Missense_Mutation_p.G425V	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	465	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---	capture		Missense_Mutation	SNP	144733436	144733436	18642	8	G	T	T	43	43	ZNF623	T	2	2
PUF60	22827	broad.mit.edu	37	8	144898966	144898966	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144898966G>T	uc003yzs.2	-	12	1468	c.1404C>A	c.(1402-1404)AAC>AAA	p.N468K	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.N408K|PUF60_uc003yzt.2_Missense_Mutation_p.N451K|PUF60_uc003yzq.2_Missense_Mutation_p.N425K	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	468	RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---	capture		Missense_Mutation	SNP	144898966	144898966	13282	8	G	T	T	48	48	PUF60	T	2	2
PLEC	5339	broad.mit.edu	37	8	144993558	144993558	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144993558G>T	uc003zaf.1	-	32	11012	c.10842C>A	c.(10840-10842)CCC>CCA	p.P3614P	PLEC_uc003zab.1_Silent_p.P3477P|PLEC_uc003zac.1_Silent_p.P3481P|PLEC_uc003zad.2_Silent_p.P3477P|PLEC_uc003zae.1_Silent_p.P3445P|PLEC_uc003zag.1_Silent_p.P3455P|PLEC_uc003zah.2_Silent_p.P3463P|PLEC_uc003zaj.2_Silent_p.P3504P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3614	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---	capture		Silent	SNP	144993558	144993558	12478	8	G	T	T	39	39	PLEC	T	1	1
RPL8	6132	broad.mit.edu	37	8	146017419	146017419	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146017419C>A	uc003zeb.2	-	2	207	c.96G>T	c.(94-96)GTG>GTT	p.V32V	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.V32V|RPL8_uc003zec.2_Silent_p.V32V|RPL8_uc010mgc.2_Silent_p.V32V|RPL8_uc011lll.1_5'Flank	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	32					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---	capture		Silent	SNP	146017419	146017419	14081	8	C	A	A	21	21	RPL8	A	2	2
DMRT2	10655	broad.mit.edu	37	9	1056400	1056400	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:1056400C>A	uc003zha.2	+	4	1013	c.813C>A	c.(811-813)CCC>CCA	p.P271P	DMRT2_uc003zgx.3_Silent_p.P38P|DMRT2_uc010mgz.2_Silent_p.P38P|DMRT2_uc003zgy.3_Silent_p.P115P|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.P271P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	271					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)														---	---	---	---	capture		Silent	SNP	1056400	1056400	4766	9	C	A	A	21	21	DMRT2	A	2	2
SMARCA2	6595	broad.mit.edu	37	9	2033005	2033005	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2033005C>A	uc003zhc.2	+	3	378	c.279C>A	c.(277-279)TCC>TCA	p.S93S	SMARCA2_uc003zhd.2_Silent_p.S93S|SMARCA2_uc010mha.2_Silent_p.S84S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	93					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---	capture		Silent	SNP	2033005	2033005	15267	9	C	A	A	21	21	SMARCA2	A	2	2
KCNV2	169522	broad.mit.edu	37	9	2718311	2718311	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718311G>T	uc003zho.1	+	1	786	c.572G>T	c.(571-573)CGG>CTG	p.R191L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	191	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---	capture		Missense_Mutation	SNP	2718311	2718311	8400	9	G	T	T	39	39	KCNV2	T	1	1
KIAA2026	158358	broad.mit.edu	37	9	5920622	5920622	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5920622C>A	uc003zjq.3	-	8	5590	c.5374G>T	c.(5374-5376)GGG>TGG	p.G1792W	KIAA2026_uc010mht.2_Missense_Mutation_p.G967W	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1792										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	5920622	5920622	8581	9	C	A	A	24	24	KIAA2026	A	2	2
UHRF2	115426	broad.mit.edu	37	9	6460735	6460735	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6460735C>A	uc003zjy.2	+	4	1147	c.807C>A	c.(805-807)ACC>ACA	p.T269T	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Silent_p.T46T	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	269	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)														---	---	---	---	capture		Silent	SNP	6460735	6460735	17528	9	C	A	A	21	21	UHRF2	A	2	2
GLDC	2731	broad.mit.edu	37	9	6595065	6595065	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6595065G>T	uc003zkc.2	-	9	1403	c.1210C>A	c.(1210-1212)CTG>ATG	p.L404M		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	404					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	6595065	6595065	6701	9	G	T	T	34	34	GLDC	T	2	2
PTPRD	5789	broad.mit.edu	37	9	8636794	8636794	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8636794C>A	uc003zkk.2	-	12	826	c.115G>T	c.(115-117)GGA>TGA	p.G39*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zks.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zko.2_Nonsense_Mutation_p.G39*|PTPRD_uc003zkt.1_Nonsense_Mutation_p.G39*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	39	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---	capture		Nonsense_Mutation	SNP	8636794	8636794	13256	9	C	A	A	23	23	PTPRD	A	5	1
SNAPC3	6619	broad.mit.edu	37	9	15447131	15447131	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15447131G>T	uc003zlt.2	+	5	717	c.621G>T	c.(619-621)TTG>TTT	p.L207F	SNAPC3_uc011lmt.1_Missense_Mutation_p.L207F|SNAPC3_uc003zlu.2_RNA	NM_001039697	NP_001034786	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex,	207					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding				0				GBM - Glioblastoma multiforme(50;2.15e-06)														---	---	---	---	capture		Missense_Mutation	SNP	15447131	15447131	15336	9	G	T	T	47	47	SNAPC3	T	2	2
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)				T	MLL	ALL								---	---	---	---	capture		Silent	SNP	20414343	20414343	10018	9	A	G	G	14	14	MLLT3	G	4	4
MTAP	4507	broad.mit.edu	37	9	21816734	21816734	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21816734G>T	uc003zph.2	+	3	255	c.142G>T	c.(142-144)GGG>TGG	p.G48W	MTAP_uc003zpi.1_Missense_Mutation_p.G48W|MTAP_uc010mit.2_RNA|MTAP_uc011lnk.1_Missense_Mutation_p.G65W|MTAP_uc011lnl.1_5'Flank	NM_002451	NP_002442	Q13126	MTAP_HUMAN	5'-methylthioadenosine phosphorylase	48					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity			central_nervous_system(1)	1		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)													---	---	---	---	capture		Missense_Mutation	SNP	21816734	21816734	10304	9	G	T	T	43	43	MTAP	T	2	2
C9orf82	79886	broad.mit.edu	37	9	26884875	26884875	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26884875C>A	uc003zqc.2	-	4	610	c.598G>T	c.(598-600)GGA>TGA	p.G200*	C9orf82_uc003zqb.2_Nonsense_Mutation_p.G55*	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	200											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---	capture		Nonsense_Mutation	SNP	26884875	26884875	2615	9	C	A	A	21	21	C9orf82	A	5	2
TAF1L	138474	broad.mit.edu	37	9	32630222	32630222	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32630222A>T	uc003zrg.1	-	1	5446	c.5356T>A	c.(5356-5358)TTC>ATC	p.F1786I		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1786					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---	capture		Missense_Mutation	SNP	32630222	32630222	16044	9	A	T	T	1	1	TAF1L	T	4	4
C9orf23	138716	broad.mit.edu	37	9	34610925	34610925	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34610925C>A	uc003zuu.2	-	2	650	c.369G>T	c.(367-369)CGG>CGT	p.R123R	C9orf23_uc003zuv.2_Silent_p.R123R	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	hypothetical protein LOC138716	123							nucleic acid binding				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)														---	---	---	---	capture		Silent	SNP	34610925	34610925	2589	9	C	A	A	22	22	C9orf23	A	2	2
CREB3	10488	broad.mit.edu	37	9	35736299	35736299	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35736299G>T	uc003zxv.2	+	8	1225	c.772G>T	c.(772-774)GAG>TAG	p.E258*	CREB3_uc010mla.2_Nonsense_Mutation_p.E177*	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	282	Lumenal (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)												OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Nonsense_Mutation	SNP	35736299	35736299	3994	9	G	T	T	45	45	CREB3	T	5	2
MSMP	692094	broad.mit.edu	37	9	35754006	35754006	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35754006G>T	uc003zyb.1	-	1	267	c.121C>A	c.(121-123)CAA>AAA	p.Q41K		NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN	PC3-secreted microprotein precursor	41						extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	35754006	35754006	10277	9	G	T	T	47	47	MSMP	T	2	2
NPR2	4882	broad.mit.edu	37	9	35792877	35792877	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35792877G>T	uc003zyd.2	+	1	472	c.472G>T	c.(472-474)GGG>TGG	p.G158W	NPR2_uc010mlb.2_Missense_Mutation_p.G158W	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	158	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)													---	---	---	---	capture		Missense_Mutation	SNP	35792877	35792877	11000	9	G	T	T	39	39	NPR2	T	1	1
GNE	10020	broad.mit.edu	37	9	36229070	36229070	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36229070G>T	uc010mlh.2	-	6	1233	c.1018C>A	c.(1018-1020)CAA>AAA	p.Q340K	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.Q340K|GNE_uc011lpl.1_Missense_Mutation_p.Q230K|GNE_uc010mli.2_Missense_Mutation_p.Q371K|GNE_uc010mlj.2_Missense_Mutation_p.Q335K	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	340	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Missense_Mutation	SNP	36229070	36229070	6791	9	G	T	T	47	47	GNE	T	2	2
MELK	9833	broad.mit.edu	37	9	36630331	36630331	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36630331C>A	uc003zzn.2	+	9	840	c.702C>A	c.(700-702)CCC>CCA	p.P234P	MELK_uc011lpm.1_Silent_p.P103P|MELK_uc011lpn.1_Silent_p.P234P|MELK_uc011lpo.1_Silent_p.P40P|MELK_uc010mll.2_Silent_p.P202P|MELK_uc011lpp.1_Silent_p.P186P|MELK_uc010mlm.2_Silent_p.P163P|MELK_uc011lpq.1_Silent_p.P40P|MELK_uc011lpr.1_Silent_p.P163P|MELK_uc011lps.1_Silent_p.P154P	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	234	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Silent	SNP	36630331	36630331	9859	9	C	A	A	21	21	MELK	A	2	2
CNTNAP3	79937	broad.mit.edu	37	9	39086791	39086791	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:39086791G>T	uc004abi.2	-	20	3515	c.3276C>A	c.(3274-3276)ACC>ACA	p.T1092T	CNTNAP3_uc004abj.2_Silent_p.T1011T|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.T1092T	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	1092	Laminin G-like 4.|Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)														---	---	---	---	capture		Silent	SNP	39086791	39086791	3786	9	G	T	T	35	35	CNTNAP3	T	2	2
TRPM6	140803	broad.mit.edu	37	9	77442742	77442742	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77442742G>A	uc004ajl.1	-	7	1031	c.793C>T	c.(793-795)CTC>TTC	p.L265F	TRPM6_uc004ajk.1_Missense_Mutation_p.L260F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.L265F|TRPM6_uc010mpd.1_Missense_Mutation_p.L265F|TRPM6_uc010mpe.1_Missense_Mutation_p.L265F|TRPM6_uc004ajn.1_Missense_Mutation_p.L265F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	265	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77442742	77442742	17141	9	G	A	A	34	34	TRPM6	A	2	2
C9orf95	54981	broad.mit.edu	37	9	77683961	77683961	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77683961G>T	uc004aju.2	-	7	1045	c.447C>A	c.(445-447)CCC>CCA	p.P149P	C9orf95_uc004ajs.3_Silent_p.P153P|C9orf95_uc004ajr.3_Silent_p.P149P|C9orf95_uc004ajt.3_Silent_p.P125P	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	149					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0																		---	---	---	---	capture		Silent	SNP	77683961	77683961	2623	9	G	T	T	47	47	C9orf95	T	2	2
GCNT1	2650	broad.mit.edu	37	9	79117357	79117357	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79117357G>T	uc010mpf.2	+	3	401	c.60G>T	c.(58-60)ATG>ATT	p.M20I	GCNT1_uc010mpg.2_Missense_Mutation_p.M20I|GCNT1_uc010mph.2_Missense_Mutation_p.M20I|GCNT1_uc004akf.3_Missense_Mutation_p.M20I|GCNT1_uc010mpi.2_Missense_Mutation_p.M20I|GCNT1_uc004akh.3_Missense_Mutation_p.M20I	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	20	Helical; Signal-anchor for type II membrane protein; (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	79117357	79117357	6566	9	G	T	T	47	47	GCNT1	T	2	2
PSAT1	29968	broad.mit.edu	37	9	80921340	80921340	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80921340G>T	uc004ala.2	+	5	576	c.508G>T	c.(508-510)GGA>TGA	p.G170*	PSAT1_uc004alb.2_Nonsense_Mutation_p.G170*	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	170					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---	capture		Nonsense_Mutation	SNP	80921340	80921340	13097	9	G	T	T	43	43	PSAT1	T	5	2
RASEF	158158	broad.mit.edu	37	9	85619503	85619503	+	Splice_Site	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85619503T>A	uc004amo.1	-	9	1375	c.1114_splice	c.e9-1	p.H372_splice		NM_152573	NP_689786			RAS and EF-hand domain containing						protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3																		---	---	---	---	capture		Splice_Site	SNP	85619503	85619503	13529	9	T	A	A	55	55	RASEF	A	5	4
UBQLN1	29979	broad.mit.edu	37	9	86293468	86293468	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86293468C>A	uc004amv.2	-	5	1332	c.758G>T	c.(757-759)AGG>ATG	p.R253M	UBQLN1_uc004amw.2_Missense_Mutation_p.R253M	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	253					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	86293468	86293468	17454	9	C	A	A	24	24	UBQLN1	A	2	2
HNRNPK	3190	broad.mit.edu	37	9	86588865	86588865	+	Silent	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86588865A>C	uc004ang.3	-	8	578	c.354T>G	c.(352-354)ACT>ACG	p.T118T	HNRNPK_uc011lsw.1_5'UTR|HNRNPK_uc004and.3_5'UTR|HNRNPK_uc004ank.3_Silent_p.T118T|HNRNPK_uc004anf.3_Silent_p.T118T|HNRNPK_uc004anh.3_Intron|HNRNPK_uc011lsx.1_Intron|HNRNPK_uc004ani.3_Silent_p.T118T|HNRNPK_uc004anj.3_Silent_p.T118T|HNRNPK_uc004ann.3_Intron|HNRNPK_uc004anl.3_Silent_p.T118T|HNRNPK_uc004anm.3_Silent_p.T118T	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	118	5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	86588865	86588865	7561	9	A	C	C	7	7	HNRNPK	C	4	4
FAM120A	23196	broad.mit.edu	37	9	96259804	96259804	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96259804G>T	uc004atw.2	+	4	881	c.856G>T	c.(856-858)GTT>TTT	p.V286F	FAM120A_uc004atv.2_Missense_Mutation_p.V286F|FAM120A_uc004atx.2_Missense_Mutation_p.V68F|FAM120A_uc004aty.2_Missense_Mutation_p.V68F	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	286						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	96259804	96259804	5612	9	G	T	T	40	40	FAM120A	T	1	1
SMC2	10592	broad.mit.edu	37	9	106891965	106891965	+	Nonsense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:106891965G>T	uc004bbv.2	+	21	3118	c.2830G>T	c.(2830-2832)GAG>TAG	p.E944*	SMC2_uc004bbw.2_Nonsense_Mutation_p.E944*|SMC2_uc011lvl.1_Nonsense_Mutation_p.E944*|SMC2_uc004bbx.2_Nonsense_Mutation_p.E944*|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	944					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	106891965	106891965	15281	9	G	T	T	33	33	SMC2	T	5	2
OR2K2	26248	broad.mit.edu	37	9	114090594	114090594	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114090594C>A	uc011lwp.1	-	1	120	c.120G>T	c.(118-120)TTG>TTT	p.L40F		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	69	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	114090594	114090594	11411	9	C	A	A	21	21	OR2K2	A	2	2
C9orf84	158401	broad.mit.edu	37	9	114520464	114520464	+	Missense_Mutation	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114520464G>A	uc004bfr.2	-	5	551	c.416C>T	c.(415-417)TCT>TTT	p.S139F	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.S203F|C9orf84_uc004bfq.2_Missense_Mutation_p.S100F|C9orf84_uc010mug.2_Missense_Mutation_p.S85F	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	139										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	114520464	114520464	2616	9	G	A	A	33	33	C9orf84	A	2	2
SLC31A1	1317	broad.mit.edu	37	9	116022625	116022625	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116022625C>A	uc004bgu.2	+	5	631	c.445C>A	c.(445-447)CTC>ATC	p.L149I	FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Intron	NM_001859	NP_001850	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporters),	149	Helical; (Potential).					integral to plasma membrane	copper ion transmembrane transporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	116022625	116022625	15060	9	C	A	A	24	24	SLC31A1	A	2	2
ATP6V1G1	9550	broad.mit.edu	37	9	117359862	117359862	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117359862C>A	uc004bjc.2	+	3	321	c.196C>A	c.(196-198)CGT>AGT	p.R66S		NM_004888	NP_004879	O75348	VATG1_HUMAN	vacuolar H+ ATPase G1	66					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances				0																		---	---	---	---	capture		Missense_Mutation	SNP	117359862	117359862	1205	9	C	A	A	23	23	ATP6V1G1	A	1	1
DBC1	1620	broad.mit.edu	37	9	122075590	122075590	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:122075590C>A	uc004bkc.2	-	2	500	c.44G>T	c.(43-45)TGG>TTG	p.W15L	DBC1_uc004bkd.2_Missense_Mutation_p.W15L	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	15					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	122075590	122075590	4418	9	C	A	A	21	21	DBC1	A	2	2
OR1J4	26219	broad.mit.edu	37	9	125281654	125281654	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125281654C>A	uc011lyw.1	+	1	235	c.235C>A	c.(235-237)CCA>ACA	p.P79T		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	125281654	125281654	11367	9	C	A	A	22	22	OR1J4	A	2	2
HSPA5	3309	broad.mit.edu	37	9	128001526	128001526	+	Silent	SNP	G	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128001526G>A	uc004bpn.2	-	5	946	c.690C>T	c.(688-690)TTC>TTT	p.F230F		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	230					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)										Prostate(1;0.17)			---	---	---	---	capture		Silent	SNP	128001526	128001526	7713	9	G	A	A	37	37	HSPA5	A	1	1
DOLPP1	57171	broad.mit.edu	37	9	131846978	131846978	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131846978G>T	uc004bxc.2	+	2	136	c.108G>T	c.(106-108)CTG>CTT	p.L36L	DOLPP1_uc004bxd.2_Silent_p.L36L|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	36	Helical; (Potential).				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	131846978	131846978	4888	9	G	T	T	45	45	DOLPP1	T	2	2
TOR1B	27348	broad.mit.edu	37	9	132566464	132566464	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132566464C>A	uc004byk.1	+	2	372	c.312C>A	c.(310-312)ACC>ACA	p.T104T		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	104					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)																---	---	---	---	capture		Silent	SNP	132566464	132566464	16916	9	C	A	A	22	22	TOR1B	A	2	2
ABL1	25	broad.mit.edu	37	9	133759576	133759576	+	Silent	SNP	C	A	A	rs2229068	byFrequency;by1000genomes	TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133759576C>A	uc004bzw.2	+	11	1902	c.1899C>A	c.(1897-1899)GCC>GCA	p.A633A	ABL1_uc004bzv.2_Silent_p.A652A	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	633					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								---	---	---	---	capture		Silent	SNP	133759576	133759576	93	9	C	A	A	23	23	ABL1	A	1	1
SETX	23064	broad.mit.edu	37	9	135218091	135218091	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135218091G>T	uc004cbk.2	-	5	667	c.484C>A	c.(484-486)CAT>AAT	p.H162N		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	162					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)														---	---	---	---	capture		Missense_Mutation	SNP	135218091	135218091	14630	9	G	T	T	47	47	SETX	T	2	2
CAMSAP1	157922	broad.mit.edu	37	9	138714106	138714106	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138714106G>T	uc004cgr.3	-	11	2401	c.2401C>A	c.(2401-2403)CAG>AAG	p.Q801K	CAMSAP1_uc004cgq.3_Missense_Mutation_p.Q691K|CAMSAP1_uc010nbg.2_Missense_Mutation_p.Q523K	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	801						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---	capture		Missense_Mutation	SNP	138714106	138714106	2728	9	G	T	T	45	45	CAMSAP1	T	2	2
SDCCAG3	10807	broad.mit.edu	37	9	139299141	139299141	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139299141C>A	uc004chi.2	-	8	1215	c.1010G>T	c.(1009-1011)CGG>CTG	p.R337L	SDCCAG3_uc004chj.2_Missense_Mutation_p.R314L|SDCCAG3_uc004chk.2_Missense_Mutation_p.R264L	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	337	Potential.					cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)														---	---	---	---	capture		Missense_Mutation	SNP	139299141	139299141	14443	9	C	A	A	23	23	SDCCAG3	A	1	1
CSF2RA	1438	broad.mit.edu	37	X	1409342	1409342	+	Nonsense_Mutation	SNP	G	T	T	rs137852353		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1409342G>T	uc010nct.2	+	8	908	c.586G>T	c.(586-588)GGA>TGA	p.G196*	CSF2RA_uc011mhb.1_Nonsense_Mutation_p.G196*|CSF2RA_uc004cpq.2_Nonsense_Mutation_p.G196*|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.G196*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.G196*|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.G63*|CSF2RA_uc004cpp.2_Nonsense_Mutation_p.G196*|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.G196*|CSF2RA_uc004cpr.2_Nonsense_Mutation_p.G196*	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	196	Extracellular (Potential).		G -> R (in SMDP4).			extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Nonsense_Mutation	SNP	1409342	1409342	4075	23	G	T	T	39	39	CSF2RA	T	5	1
GLRA2	2742	broad.mit.edu	37	X	14708867	14708867	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14708867G>T	uc010nep.2	+	9	1298	c.966G>T	c.(964-966)GCG>GCT	p.A322A	GLRA2_uc010neq.2_Silent_p.A322A|GLRA2_uc004cwe.3_Silent_p.A322A|GLRA2_uc011mio.1_Silent_p.A233A|GLRA2_uc011mip.1_Silent_p.A300A	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	322	Helical; (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)													---	---	---	---	capture		Silent	SNP	14708867	14708867	6723	23	G	T	T	39	39	GLRA2	T	1	1
CDKL5	6792	broad.mit.edu	37	X	18616696	18616696	+	Missense_Mutation	SNP	A	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18616696A>C	uc004cym.2	+	11	1193	c.940A>C	c.(940-942)AAA>CAA	p.K314Q	CDKL5_uc004cyn.2_Missense_Mutation_p.K314Q	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	314					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	18616696	18616696	3286	23	A	C	C	1	1	CDKL5	C	4	4
PHEX	5251	broad.mit.edu	37	X	22095759	22095759	+	Missense_Mutation	SNP	C	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22095759C>T	uc004dah.2	+	5	805	c.602C>T	c.(601-603)TCT>TTT	p.S201F	PHEX_uc011mjr.1_Missense_Mutation_p.S201F|PHEX_uc011mjs.1_Missense_Mutation_p.S104F	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	201	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	22095759	22095759	12242	23	C	T	T	32	32	PHEX	T	2	2
APOO	79135	broad.mit.edu	37	X	23858459	23858459	+	Nonstop_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23858459C>A	uc004dax.2	-	8	828	c.597G>T	c.(595-597)TAG>TAT	p.*199Y	APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	199					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0																		---	---	---	---	capture		Nonstop_Mutation	SNP	23858459	23858459	824	23	C	A	A	32	32	APOO	A	5	2
CXorf21	80231	broad.mit.edu	37	X	30577741	30577741	+	Silent	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30577741G>C	uc004dcg.1	-	3	1008	c.732C>G	c.(730-732)CTC>CTG	p.L244L		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	244										ovary(1)	1																		---	---	---	---	capture		Silent	SNP	30577741	30577741	4261	23	G	C	C	45	45	CXorf21	C	3	3
CXorf21	80231	broad.mit.edu	37	X	30577970	30577970	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30577970G>C	uc004dcg.1	-	3	779	c.503C>G	c.(502-504)TCC>TGC	p.S168C		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	168										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30577970	30577970	4261	23	G	C	C	41	41	CXorf21	C	3	3
CXorf21	80231	broad.mit.edu	37	X	30578451	30578451	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30578451T>C	uc004dcg.1	-	3	298	c.22A>G	c.(22-24)AGT>GGT	p.S8G		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	8										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30578451	30578451	4261	23	T	C	C	55	55	CXorf21	C	4	4
WNK3	65267	broad.mit.edu	37	X	54275131	54275131	+	Missense_Mutation	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54275131T>A	uc004dtd.1	-	17	4089	c.3650A>T	c.(3649-3651)CAT>CTT	p.H1217L	WNK3_uc004dtc.1_Missense_Mutation_p.H1217L	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1217					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11																		---	---	---	---	capture		Missense_Mutation	SNP	54275131	54275131	17953	23	T	A	A	51	51	WNK3	A	4	4
ZC4H2	55906	broad.mit.edu	37	X	64138996	64138996	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64138996G>T	uc004dvu.2	-	4	575	c.487C>A	c.(487-489)CAA>AAA	p.Q163K	ZC4H2_uc004dvv.2_Missense_Mutation_p.Q140K|ZC4H2_uc011mov.1_Missense_Mutation_p.Q140K|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	163							metal ion binding|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	64138996	64138996	18166	23	G	T	T	47	47	ZC4H2	T	2	2
VSIG4	11326	broad.mit.edu	37	X	65252402	65252402	+	Missense_Mutation	SNP	G	T	T	rs150666044		TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65252402G>T	uc004dwh.2	-	3	729	c.602C>A	c.(601-603)GCG>GAG	p.A201E	VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.A201E|VSIG4_uc004dwj.2_Missense_Mutation_p.A201E|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.A201E|VSIG4_uc004dwl.2_Missense_Mutation_p.A97E	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	201	Ig-like 2.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	65252402	65252402	17793	23	G	T	T	38	38	VSIG4	T	1	1
ABCB7	22	broad.mit.edu	37	X	74282203	74282203	+	Missense_Mutation	SNP	T	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74282203T>C	uc004eca.2	-	14	1920	c.1895A>G	c.(1894-1896)TAT>TGT	p.Y632C	ABCB7_uc004ebz.2_Missense_Mutation_p.Y633C|ABCB7_uc011mqn.1_Missense_Mutation_p.Y606C|ABCB7_uc010nls.2_Missense_Mutation_p.Y593C|ABCB7_uc010nlt.2_Missense_Mutation_p.Y592C	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	632	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74282203	74282203	47	23	T	C	C	49	49	ABCB7	C	4	4
ATP7A	538	broad.mit.edu	37	X	77301961	77301961	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77301961C>A	uc004ecx.3	+	23	4557	c.4397C>A	c.(4396-4398)TCA>TAA	p.S1466*		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1466	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	77301961	77301961	1209	23	C	A	A	29	29	ATP7A	A	5	2
BRWD3	254065	broad.mit.edu	37	X	79975108	79975108	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79975108G>T	uc004edt.2	-	18	2187	c.1924C>A	c.(1924-1926)CAA>AAA	p.Q642K	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.Q238K|BRWD3_uc004edp.2_Missense_Mutation_p.Q471K|BRWD3_uc004edq.2_Missense_Mutation_p.Q238K|BRWD3_uc010nmj.1_Missense_Mutation_p.Q238K|BRWD3_uc004edr.2_Missense_Mutation_p.Q312K|BRWD3_uc004eds.2_Missense_Mutation_p.Q238K|BRWD3_uc004edu.2_Missense_Mutation_p.Q312K|BRWD3_uc004edv.2_Missense_Mutation_p.Q238K|BRWD3_uc004edw.2_Missense_Mutation_p.Q238K|BRWD3_uc004edx.2_Missense_Mutation_p.Q238K|BRWD3_uc004edy.2_Missense_Mutation_p.Q238K|BRWD3_uc004edz.2_Missense_Mutation_p.Q312K|BRWD3_uc004eea.2_Missense_Mutation_p.Q312K|BRWD3_uc004eeb.2_Missense_Mutation_p.Q238K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	642										ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	79975108	79975108	1557	23	G	T	T	47	47	BRWD3	T	2	2
KLHL4	56062	broad.mit.edu	37	X	86773049	86773049	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:86773049G>T	uc004efb.2	+	1	335	c.153G>T	c.(151-153)AGG>AGT	p.R51S	KLHL4_uc004efa.2_Missense_Mutation_p.R51S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	51						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	86773049	86773049	8705	23	G	T	T	44	44	KLHL4	T	2	2
GLA	2717	broad.mit.edu	37	X	100653780	100653780	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100653780G>T	uc004ehl.1	-	5	904	c.794C>A	c.(793-795)CCA>CAA	p.P265Q		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	265			P -> R (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)													---	---	---	---	capture		Missense_Mutation	SNP	100653780	100653780	6694	23	G	T	T	47	47	GLA	T	2	2
RAB40AL	282808	broad.mit.edu	37	X	102192998	102192998	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102192998G>T	uc004ejs.2	+	1	799	c.752G>T	c.(751-753)AGG>ATG	p.R251M		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	251					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	102192998	102192998	13399	23	G	T	T	35	35	RAB40AL	T	2	2
NRK	203447	broad.mit.edu	37	X	105183976	105183976	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105183976G>T	uc004emd.2	+	23	4213	c.3910G>T	c.(3910-3912)GCC>TCC	p.A1304S	NRK_uc010npc.1_Missense_Mutation_p.A972S	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1304	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	105183976	105183976	11060	23	G	T	T	34	34	NRK	T	2	2
MORC4	79710	broad.mit.edu	37	X	106228456	106228456	+	Nonsense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106228456C>A	uc004emu.3	-	5	787	c.544G>T	c.(544-546)GAG>TAG	p.E182*	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Nonsense_Mutation_p.E182*|MORC4_uc004emw.3_Intron	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	182							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	106228456	106228456	10095	23	C	A	A	31	31	MORC4	A	5	1
IRS4	8471	broad.mit.edu	37	X	107979494	107979494	+	Silent	SNP	T	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107979494T>A	uc004eoc.2	-	1	114	c.81A>T	c.(79-81)GCA>GCT	p.A27A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	27	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10																		---	---	---	---	capture		Silent	SNP	107979494	107979494	8146	23	T	A	A	55	55	IRS4	A	4	4
KLHL13	90293	broad.mit.edu	37	X	117044003	117044003	+	Silent	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117044003G>T	uc004eql.2	-	5	689	c.627C>A	c.(625-627)ACC>ACA	p.T209T	KLHL13_uc004eqk.2_Silent_p.T158T|KLHL13_uc011mtn.1_Silent_p.T49T|KLHL13_uc011mto.1_Silent_p.T203T|KLHL13_uc011mtp.1_Silent_p.T211T|KLHL13_uc004eqm.2_Silent_p.T158T|KLHL13_uc011mtq.1_Silent_p.T193T	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	209	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	117044003	117044003	8681	23	G	T	T	39	39	KLHL13	T	1	1
CUL4B	8450	broad.mit.edu	37	X	119664005	119664005	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119664005G>T	uc004esw.2	-	21	3035	c.2598C>A	c.(2596-2598)CAC>CAA	p.H866Q	CUL4B_uc010nqq.2_Missense_Mutation_p.H567Q|CUL4B_uc004esv.2_Missense_Mutation_p.H848Q	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	866					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	119664005	119664005	4218	23	G	T	T	48	48	CUL4B	T	2	2
OCRL	4952	broad.mit.edu	37	X	128710040	128710040	+	Splice_Site	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128710040G>T	uc004euq.2	+	17	2044	c.1879_splice	c.e17+1	p.N627_splice	OCRL_uc004eur.2_Splice_Site_p.N627_splice	NM_000276	NP_000267			phosphatidylinositol polyphosphate 5-phosphatase						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4																		---	---	---	---	capture		Splice_Site	SNP	128710040	128710040	11228	23	G	T	T	36	36	OCRL	T	5	2
ARHGAP36	158763	broad.mit.edu	37	X	130217734	130217734	+	Missense_Mutation	SNP	A	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130217734A>T	uc004evz.2	+	4	691	c.346A>T	c.(346-348)AGC>TGC	p.S116C	ARHGAP36_uc004ewa.2_Missense_Mutation_p.S104C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S85C|ARHGAP36_uc004ewc.2_5'UTR	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	116					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	130217734	130217734	895	23	A	T	T	15	15	ARHGAP36	T	4	4
GPC4	2239	broad.mit.edu	37	X	132458415	132458415	+	Missense_Mutation	SNP	G	T	T			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132458415G>T	uc004exc.1	-	3	681	c.469C>A	c.(469-471)CTG>ATG	p.L157M	GPC4_uc011mvg.1_Missense_Mutation_p.L87M	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	157					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	132458415	132458415	6874	23	G	T	T	35	35	GPC4	T	2	2
CD40LG	959	broad.mit.edu	37	X	135741406	135741406	+	Silent	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135741406C>A	uc004faa.2	+	5	690	c.618C>A	c.(616-618)CTC>CTA	p.L206L	CD40LG_uc010nsd.2_Silent_p.L185L	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	206	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)									Immune_Deficiency_with_Hyper-IgM				---	---	---	---	capture		Silent	SNP	135741406	135741406	3144	23	C	A	A	29	29	CD40LG	A	2	2
CDR1	1038	broad.mit.edu	37	X	139866047	139866047	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139866047C>A	uc004fbg.1	-	1	677	c.485G>T	c.(484-486)AGA>ATA	p.R162I	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	162	4.|6 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)																---	---	---	---	capture		Missense_Mutation	SNP	139866047	139866047	3300	23	C	A	A	32	32	CDR1	A	2	2
MAGEC1	9947	broad.mit.edu	37	X	140993421	140993421	+	Missense_Mutation	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140993421G>C	uc004fbt.2	+	4	517	c.231G>C	c.(229-231)CAG>CAC	p.Q77H	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	77							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---	capture		Missense_Mutation	SNP	140993421	140993421	9561	23	G	C	C	36	36	MAGEC1	C	3	3
AFF2	2334	broad.mit.edu	37	X	147967502	147967502	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147967502C>A	uc004fcp.2	+	8	1825	c.1346C>A	c.(1345-1347)ACT>AAT	p.T449N	AFF2_uc004fco.2_Missense_Mutation_p.T410N|AFF2_uc004fcq.2_Missense_Mutation_p.T439N|AFF2_uc004fcr.2_Missense_Mutation_p.T410N|AFF2_uc011mxb.1_Missense_Mutation_p.T414N|AFF2_uc004fcs.2_Missense_Mutation_p.T416N|AFF2_uc011mxc.1_Missense_Mutation_p.T90N	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	449					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		Missense_Mutation	SNP	147967502	147967502	358	23	C	A	A	20	20	AFF2	A	2	2
TMEM185A	84548	broad.mit.edu	37	X	148690401	148690401	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148690401C>A	uc011mxq.1	-	4	647	c.336G>T	c.(334-336)TGG>TGT	p.W112C	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.W53C|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.W29C	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	112	Helical; (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---	capture		Missense_Mutation	SNP	148690401	148690401	16641	23	C	A	A	26	26	TMEM185A	A	2	2
CNGA2	1260	broad.mit.edu	37	X	150911689	150911689	+	Silent	SNP	G	C	C			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911689G>C	uc004fey.1	+	7	938	c.714G>C	c.(712-714)GTG>GTC	p.V238V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	238	Helical; Name=H3; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	150911689	150911689	3735	23	G	C	C	47	47	CNGA2	C	3	3
USP9Y	8287	broad.mit.edu	37	Y	14959215	14959215	+	Missense_Mutation	SNP	C	A	A			TCGA-85-6561-01	TCGA-85-6561-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:14959215C>A	uc004fst.1	+	42	7972	c.7027C>A	c.(7027-7029)CAA>AAA	p.Q2343K	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	2343					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	14959215	14959215	17655	24	C	A	A	21	21	USP9Y	A	2	2
