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
MTHFD2L	441024	broad.mit.edu	37	4	75040299	75040300	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75040299_75040300TG>AT	uc003hhn.1	+	5	564_565	c.46_47TG>AT	c.(46-48)TGG>ATG	p.W16M	MTHFD2L_uc011cbj.1_Missense_Mutation_p.W16M|MTHFD2L_uc011cbk.1_Missense_Mutation_p.W74M|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	16					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)															---	---	---	---	capture		Missense_Mutation	DNP	75040299	75040300	10323	4	TG	AT	AT	51	51	MTHFD2L	AT	4	4
VSTM2A	222008	broad.mit.edu	37	7	54610429	54610430	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:54610429_54610430GG>TT	uc010kzf.2	+	1	411_412	c.6_7GG>TT	c.(4-9)ATGGGG>ATTTGG	p.2_3MG>IW	VSTM2A_uc010kze.2_Missense_Mutation_p.2_3MG>IW|VSTM2A_uc003tqc.3_Missense_Mutation_p.2_3MG>IW	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	2_3						extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)															---	---	---	---	capture		Missense_Mutation	DNP	54610429	54610430	17797	7	GG	TT	TT	47	47	VSTM2A	TT	2	2
EGFR	1956	broad.mit.edu	37	7	55249109	55249110	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55249109_55249110CG>AT	uc003tqk.2	+	20	2653_2654	c.2407_2408CG>AT	c.(2407-2409)CGG>ATG	p.R803M	EGFR_uc010kzg.1_Missense_Mutation_p.R758M|EGFR_uc011kco.1_Missense_Mutation_p.R750M|uc003tqo.2_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	803	Cytoplasmic (Potential).|Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R803L(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---	capture		Missense_Mutation	DNP	55249109	55249110	5156	7	CG	AT	AT	23	23	EGFR	AT	1	1
ACBD7	414149	broad.mit.edu	37	10	15059240	15059240	+	Frame_Shift_Del	DEL	G	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15059240delG	uc010qby.1	-	6	442	c.133delC	c.(133-135)CAAfs	p.Q45fs				Q8N6N7	ACBD7_HUMAN	SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-);	Error:Variant_position_missing_in_Q8N6N7_after_alignment							fatty-acyl-CoA binding				0																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	15059240	15059240	128	10	G	-	-	47	47	ACBD7	-	5	5
CELF6	60677	broad.mit.edu	37	15	72582506	72582507	+	Frame_Shift_Ins	INS	-	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72582506_72582507insA	uc002auh.2	-	4	794_795	c.484_485insT	c.(484-486)GAGfs	p.E162fs	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Frame_Shift_Ins_p.E49fs|CELF6_uc010ukl.1_Frame_Shift_Ins_p.E47fs|CELF6_uc010ukm.1_Frame_Shift_Ins_p.E162fs|CELF6_uc002aui.2_Frame_Shift_Ins_p.E268fs|CELF6_uc002auj.2_Frame_Shift_Ins_p.E49fs	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	162	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	72582506	72582507	3353	15	-	A	A	54	54	CELF6	A	5	5
ZNF160	90338	broad.mit.edu	37	19	53571486	53571486	+	Frame_Shift_Del	DEL	C	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53571486delC	uc010eqk.2	-	7	2717	c.2301delG	c.(2299-2301)GGGfs	p.G767fs	ZNF160_uc002qaq.3_Frame_Shift_Del_p.G767fs|ZNF160_uc002qar.3_Frame_Shift_Del_p.G767fs	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	767	C2H2-type 19.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	53571486	53571486	18330	19	C	-	-	30	30	ZNF160	-	5	5
FER1L5	90342	broad.mit.edu	37	2	97329243	97329243	+	Frame_Shift_Del	DEL	A	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97329243delA	uc010fia.2	+	13	1088	c.1088delA	c.(1087-1089)CAGfs	p.Q363fs		NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	363	C2 3.					integral to membrane				ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	97329243	97329243	6051	2	A	-	-	7	7	FER1L5	-	5	5
CHMP4B	128866	broad.mit.edu	37	20	32399279	32399279	+	Frame_Shift_Del	DEL	C	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32399279delC	uc002xaa.2	+	1	161	c.5delC	c.(4-6)TCGfs	p.S2fs		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B	2					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	32399279	32399279	3491	20	C	-	-	31	31	CHMP4B	-	5	5
KRTAP10-3	386682	broad.mit.edu	37	21	45978509	45978509	+	Frame_Shift_Del	DEL	G	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45978509delG	uc002zfj.1	-	1	135	c.90delC	c.(88-90)CCCfs	p.P30fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	keratin associated protein 10-3	30	1.|18 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	45978509	45978509	8825	21	G	-	-	35	35	KRTAP10-3	-	5	5
OXSR1	9943	broad.mit.edu	37	3	38207437	38207437	+	Frame_Shift_Del	DEL	G	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38207437delG	uc003chy.2	+	1	412	c.70delG	c.(70-72)GGGfs	p.G24fs	OXSR1_uc010hhb.2_5'UTR|OXSR1_uc010hha.1_5'UTR	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	24	Protein kinase.|ATP (By similarity).				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	38207437	38207437	11749	3	G	-	-	39	39	OXSR1	-	5	5
BAK1	578	broad.mit.edu	37	6	33541613	33541623	+	Frame_Shift_Del	DEL	GCCCAACAGAA	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33541613_33541623delGCCCAACAGAA	uc003oes.2	-	6	893_903	c.593_603delTTCTGTTGGGC	c.(592-603)GTTCTGTTGGGCfs	p.V198fs	BAK1_uc003oer.2_Frame_Shift_Del_p.V128fs|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Frame_Shift_Del_p.V198fs|BAK1_uc003oeu.2_Frame_Shift_Del_p.V139fs	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	198_201	Helical; (Potential).				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	33541613	33541623	1326	6	GCCCAACAGAA	-	-	42	42	BAK1	-	5	5
GLIS3	169792	broad.mit.edu	37	9	3829318	3829318	+	Frame_Shift_Del	DEL	C	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3829318delC	uc003zhw.1	-	9	2377	c.2183delG	c.(2182-2184)GGCfs	p.G728fs	GLIS3_uc003zhx.1_Frame_Shift_Del_p.G883fs|GLIS3_uc010mhf.1_Frame_Shift_Del_p.G277fs|GLIS3_uc003zhv.1_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	728					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	3829318	3829318	6715	9	C	-	-	26	26	GLIS3	-	5	5
CNTNAP3	79937	broad.mit.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	-	-			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:39149853delC	uc004abi.2	-	10	1838	c.1599delG	c.(1597-1599)GCGfs	p.A533fs	CNTNAP3_uc004abj.2_Frame_Shift_Del_p.A533fs|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Frame_Shift_Del_p.A533fs|CNTNAP3_uc011lqs.1_Intron|CNTNAP3_uc004abl.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	533	Extracellular (Potential).|Laminin G-like 2.				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_indel		Frame_Shift_Del	DEL	39149853	39149853	3786	9	C	-	-	27	27	CNTNAP3	-	5	5
PEX10	5192	broad.mit.edu	37	1	2340172	2340172	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2340172C>G	uc001ajh.2	-	3	388	c.319G>C	c.(319-321)GAC>CAC	p.D107H	PEX10_uc001ajg.2_Missense_Mutation_p.D107H	NM_002617	NP_002608	O60683	PEX10_HUMAN	peroxisome biogenesis factor 10 isoform 2	107					protein import into peroxisome matrix|protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	2340172	2340172	12158	1	C	G	G	30	30	PEX10	G	3	3
PRAMEF2	65122	broad.mit.edu	37	1	12921252	12921252	+	Missense_Mutation	SNP	C	A	A	rs150748226	by1000genomes	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12921252C>A	uc001aum.1	+	4	1130	c.1043C>A	c.(1042-1044)GCT>GAT	p.A348D		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	348	LRR 2.										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;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	12921252	12921252	12872	1	C	A	A	28	28	PRAMEF2	A	2	2
PRAMEF4	400735	broad.mit.edu	37	1	12942116	12942116	+	Missense_Mutation	SNP	C	T	T	rs145911043	byFrequency	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12942116C>T	uc001aun.2	-	3	505	c.434G>A	c.(433-435)GGA>GAA	p.G145E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	145										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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		Missense_Mutation	SNP	12942116	12942116	12877	1	C	T	T	30	30	PRAMEF4	T	2	2
DNAJC16	23341	broad.mit.edu	37	1	15894409	15894409	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15894409G>T	uc001aws.2	+	15	2206	c.2086G>T	c.(2086-2088)GGT>TGT	p.G696C	DNAJC16_uc001awt.2_Missense_Mutation_p.G384C|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	696	Extracellular (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)														---	---	---	---	capture		Missense_Mutation	SNP	15894409	15894409	4818	1	G	T	T	47	47	DNAJC16	T	2	2
UBR4	23352	broad.mit.edu	37	1	19403254	19403254	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19403254G>A	uc001bbi.2	-	105	15471	c.15467C>T	c.(15466-15468)TCA>TTA	p.S5156L	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.S51L|UBR4_uc010ocv.1_Missense_Mutation_p.S679L|UBR4_uc009vph.2_Missense_Mutation_p.S811L|UBR4_uc010ocw.1_Missense_Mutation_p.S820L|UBR4_uc001bbg.2_Missense_Mutation_p.S867L|UBR4_uc001bbh.2_Missense_Mutation_p.S865L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5156					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---	capture		Missense_Mutation	SNP	19403254	19403254	17462	1	G	A	A	45	45	UBR4	A	2	2
UBR4	23352	broad.mit.edu	37	1	19492186	19492186	+	Missense_Mutation	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19492186T>A	uc001bbi.2	-	30	4179	c.4175A>T	c.(4174-4176)CAG>CTG	p.Q1392L	UBR4_uc001bbm.1_Missense_Mutation_p.Q603L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1392					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---	capture		Missense_Mutation	SNP	19492186	19492186	17462	1	T	A	A	55	55	UBR4	A	4	4
SFRS4	6429	broad.mit.edu	37	1	29475549	29475549	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29475549G>T	uc001bro.2	-	6	1231	c.858C>A	c.(856-858)CCC>CCA	p.P286P	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	286	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)														---	---	---	---	capture		Silent	SNP	29475549	29475549	14669	1	G	T	T	47	47	SFRS4	T	2	2
MATN1	4146	broad.mit.edu	37	1	31188829	31188829	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31188829C>A	uc001brz.2	-	5	1168	c.1134G>T	c.(1132-1134)AAG>AAT	p.K378N	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.K296N	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	378	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	31188829	31188829	9717	1	C	A	A	24	24	MATN1	A	2	2
ZSCAN20	7579	broad.mit.edu	37	1	33960553	33960553	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33960553C>A	uc001bxj.3	+	8	2776	c.2609C>A	c.(2608-2610)TCA>TAA	p.S870*	ZSCAN20_uc009vui.2_Nonsense_Mutation_p.S869*	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	870					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)																---	---	---	---	capture		Nonsense_Mutation	SNP	33960553	33960553	18836	1	C	A	A	29	29	ZSCAN20	A	5	2
ZMYM6	9204	broad.mit.edu	37	1	35476451	35476451	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35476451G>T	uc001byh.2	-	9	1477	c.1249C>A	c.(1249-1251)CAG>AAG	p.Q417K	ZMYM6_uc001byf.1_Missense_Mutation_p.Q417K|ZMYM6_uc010oht.1_Missense_Mutation_p.Q320K|ZMYM6_uc009vup.2_Missense_Mutation_p.Q223K|ZMYM6_uc009vuq.1_Missense_Mutation_p.Q417K|ZMYM6_uc009vur.1_Missense_Mutation_p.Q223K	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	417	MYM-type 5.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)																---	---	---	---	capture		Missense_Mutation	SNP	35476451	35476451	18295	1	G	T	T	47	47	ZMYM6	T	2	2
INPP5B	3633	broad.mit.edu	37	1	38338764	38338764	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38338764G>C	uc001ccg.1	-	19	2119	c.2025C>G	c.(2023-2025)GAC>GAG	p.D675E	INPP5B_uc009vvk.1_Missense_Mutation_p.D616E|INPP5B_uc001ccf.1_Missense_Mutation_p.D511E	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	755					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---	capture		Missense_Mutation	SNP	38338764	38338764	8056	1	G	C	C	48	48	INPP5B	C	3	3
HIVEP3	59269	broad.mit.edu	37	1	41976621	41976621	+	Missense_Mutation	SNP	C	T	T	rs147749727		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41976621C>T	uc001cgz.3	-	9	7935	c.6722G>A	c.(6721-6723)CGA>CAA	p.R2241Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R2240Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2241					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---	capture		Missense_Mutation	SNP	41976621	41976621	7479	1	C	T	T	31	31	HIVEP3	T	1	1
HIVEP3	59269	broad.mit.edu	37	1	42045798	42045798	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42045798C>T	uc001cgz.3	-	4	5884	c.4671G>A	c.(4669-4671)AAG>AAA	p.K1557K	HIVEP3_uc001cha.3_Silent_p.K1557K|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1557					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---	capture		Silent	SNP	42045798	42045798	7479	1	C	T	T	24	24	HIVEP3	T	2	2
KIAA0467	23334	broad.mit.edu	37	1	43914311	43914311	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43914311G>T	uc001cjk.1	+	55	7763	c.7301G>T	c.(7300-7302)TGG>TTG	p.W2434L	KIAA0467_uc001cjl.1_Missense_Mutation_p.W422L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3333						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Missense_Mutation	SNP	43914311	43914311	8485	1	G	T	T	47	47	KIAA0467	T	2	2
PTPRF	5792	broad.mit.edu	37	1	44056897	44056897	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44056897G>A	uc001cjr.2	+	9	1544	c.1204G>A	c.(1204-1206)GAG>AAG	p.E402K	PTPRF_uc001cjs.2_Missense_Mutation_p.E402K|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	402	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---	capture		Missense_Mutation	SNP	44056897	44056897	13258	1	G	A	A	37	37	PTPRF	A	1	1
TESK2	10420	broad.mit.edu	37	1	45821049	45821049	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45821049G>C	uc001cns.1	-	5	869	c.466C>G	c.(466-468)CTG>GTG	p.L156V	TESK2_uc009vxr.1_Missense_Mutation_p.L156V|TESK2_uc010olo.1_Missense_Mutation_p.L73V|TESK2_uc009vxs.1_5'UTR	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	156	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	45821049	45821049	16295	1	G	C	C	36	36	TESK2	C	3	3
MMACHC	25974	broad.mit.edu	37	1	45966078	45966078	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45966078C>A	uc009vxv.2	+	1	223	c.74C>A	c.(73-75)CCC>CAC	p.P25H	CCDC163P_uc001cnt.2_5'Flank|CCDC163P_uc001cnw.2_5'Flank|CCDC163P_uc001cnu.2_5'Flank|CCDC163P_uc009vxt.1_5'Flank|CCDC163P_uc001cnv.2_5'Flank|CCDC163P_uc009vxu.1_5'Flank|MMACHC_uc001cny.2_RNA	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency)	25							cobalamin binding				0	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	45966078	45966078	10031	1	C	A	A	22	22	MMACHC	A	2	2
TTC39A	22996	broad.mit.edu	37	1	51753897	51753897	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51753897C>A	uc001csl.2	-	18	1879	c.1774G>T	c.(1774-1776)GCC>TCC	p.A592S	TTC39A_uc001csk.2_Missense_Mutation_p.A557S|TTC39A_uc010ond.1_Missense_Mutation_p.A529S|TTC39A_uc010one.1_Missense_Mutation_p.A556S|TTC39A_uc010onf.1_Missense_Mutation_p.A560S|TTC39A_uc001csj.2_Missense_Mutation_p.A193S	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	592							binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	51753897	51753897	17262	1	C	A	A	28	28	TTC39A	A	2	2
SLC1A7	6512	broad.mit.edu	37	1	53554564	53554564	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53554564C>A	uc001cuy.2	-	10	1617	c.1449G>T	c.(1447-1449)CGG>CGT	p.R483R	SLC1A7_uc001cux.2_Silent_p.R136R	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	483						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Silent	SNP	53554564	53554564	14933	1	C	A	A	22	22	SLC1A7	A	2	2
CYB5RL	606495	broad.mit.edu	37	1	54661276	54661276	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54661276C>A	uc009vzo.2	-	3	334	c.14G>T	c.(13-15)AGG>ATG	p.R5M	CYB5RL_uc001cww.2_Translation_Start_Site|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Translation_Start_Site	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	5							cytochrome-b5 reductase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	54661276	54661276	4295	1	C	A	A	24	24	CYB5RL	A	2	2
FGGY	55277	broad.mit.edu	37	1	59844452	59844452	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:59844452G>A	uc001czi.3	+	5	709	c.497G>A	c.(496-498)GGA>GAA	p.G166E	FGGY_uc001czg.2_Missense_Mutation_p.G54E|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.G166E|FGGY_uc001czj.3_Missense_Mutation_p.G166E|FGGY_uc001czk.3_Missense_Mutation_p.G54E|FGGY_uc001czl.3_Missense_Mutation_p.G78E	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	166					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	59844452	59844452	6108	1	G	A	A	41	41	FGGY	A	2	2
MCOLN3	55283	broad.mit.edu	37	1	85498404	85498404	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85498404G>T	uc001dkp.2	-	6	800	c.707C>A	c.(706-708)CCT>CAT	p.P236H	MCOLN3_uc001dkq.2_Missense_Mutation_p.P180H|MCOLN3_uc001dkr.2_Missense_Mutation_p.P236H|MCOLN3_uc001dks.3_Missense_Mutation_p.P81H	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	236						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)														---	---	---	---	capture		Missense_Mutation	SNP	85498404	85498404	9786	1	G	T	T	35	35	MCOLN3	T	2	2
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91778938G>A	uc001doa.3	-	30	3459	c.3359C>T	c.(3358-3360)TCA>TTA	p.S1120L	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1120							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	91778938	91778938	7366	1	G	A	A	45	45	HFM1	A	2	2
CNN3	1266	broad.mit.edu	37	1	95368960	95368960	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95368960C>A	uc010otw.1	-	3	260	c.178G>T	c.(178-180)GAA>TAA	p.E60*	CNN3_uc010otv.1_Nonsense_Mutation_p.E19*|CNN3_uc001dqz.3_Nonsense_Mutation_p.E60*|CNN3_uc010otx.1_Nonsense_Mutation_p.E60*	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	60	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)														---	---	---	---	capture		Nonsense_Mutation	SNP	95368960	95368960	3749	1	C	A	A	31	31	CNN3	A	5	1
FNDC7	163479	broad.mit.edu	37	1	109271508	109271508	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109271508G>T	uc001dvx.2	+	8	1624	c.1624G>T	c.(1624-1626)GTG>TTG	p.V542L	FNDC7_uc010ova.1_Missense_Mutation_p.V309L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	543						extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	109271508	109271508	6215	1	G	T	T	35	35	FNDC7	T	2	2
GSTM4	2948	broad.mit.edu	37	1	110201701	110201701	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110201701C>A	uc001dyf.2	+	7	850	c.536C>A	c.(535-537)CCA>CAA	p.P179Q	GSTM4_uc001dyg.2_Missense_Mutation_p.P75Q|GSTM4_uc009wfj.2_Missense_Mutation_p.P118Q|GSTM4_uc001dyh.2_Missense_Mutation_p.P179Q|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	179	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)													---	---	---	---	capture		Missense_Mutation	SNP	110201701	110201701	7120	1	C	A	A	21	21	GSTM4	A	2	2
CSF1	1435	broad.mit.edu	37	1	110460061	110460061	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110460061C>A	uc001dyu.2	+	4	785	c.372C>A	c.(370-372)ACC>ACA	p.T124T	CSF1_uc001dyt.2_Silent_p.T124T|CSF1_uc001dyv.3_Silent_p.T124T|CSF1_uc001dyw.3_Silent_p.T124T	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	124	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---	capture		Silent	SNP	110460061	110460061	4072	1	C	A	A	21	21	CSF1	A	2	2
CD101	9398	broad.mit.edu	37	1	117556285	117556285	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117556285C>G	uc010oxb.1	+	4	1157	c.1099C>G	c.(1099-1101)CTG>GTG	p.L367V	CD101_uc009whd.2_Missense_Mutation_p.L367V|CD101_uc010oxc.1_Missense_Mutation_p.L367V|CD101_uc010oxd.1_Missense_Mutation_p.L305V	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	367	Ig-like C2-type 3.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	117556285	117556285	3089	1	C	G	G	32	32	CD101	G	3	3
PDE4DIP	9659	broad.mit.edu	37	1	144873931	144873931	+	Missense_Mutation	SNP	T	C	C	rs137931320	byFrequency	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144873931T>C	uc001elw.3	-	31	5317	c.5026A>G	c.(5026-5028)ATC>GTC	p.I1676V	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.I1632V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I683V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1676					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	144873931	144873931	12064	1	T	C	C	51	51	PDE4DIP	C	4	4
ITGA10	8515	broad.mit.edu	37	1	145531022	145531022	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145531022G>T	uc001eoa.2	+	7	830	c.754G>T	c.(754-756)GCC>TCC	p.A252S	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.A121S|ITGA10_uc009wiw.2_Missense_Mutation_p.A109S|ITGA10_uc010oyw.1_Missense_Mutation_p.A197S	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	252	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145531022	145531022	8177	1	G	T	T	42	42	ITGA10	T	2	2
BCL9	607	broad.mit.edu	37	1	147091547	147091547	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147091547G>T	uc001epq.2	+	8	2326	c.1586G>T	c.(1585-1587)GGG>GTG	p.G529V	BCL9_uc010ozr.1_Missense_Mutation_p.G455V	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	529	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---	capture		Missense_Mutation	SNP	147091547	147091547	1402	1	G	T	T	43	43	BCL9	T	2	2
ACP6	51205	broad.mit.edu	37	1	147126410	147126410	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147126410C>A	uc001epr.2	-	6	1143	c.679G>T	c.(679-681)GGA>TGA	p.G227*	ACP6_uc009wjj.1_Nonsense_Mutation_p.G184*	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	227					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)																	---	---	---	---	capture		Nonsense_Mutation	SNP	147126410	147126410	166	1	C	A	A	24	24	ACP6	A	5	2
FCGR1A	2209	broad.mit.edu	37	1	149761656	149761656	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149761656C>T	uc001esp.3	+	5	656	c.606C>T	c.(604-606)CTC>CTT	p.L202L	HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor	202	Extracellular (Potential).|Ig-like C2-type 3.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---	capture		Silent	SNP	149761656	149761656	6016	1	C	T	T	30	30	FCGR1A	T	2	2
MTMR11	10903	broad.mit.edu	37	1	149905510	149905510	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149905510C>G	uc001etl.3	-	9	1104	c.853G>C	c.(853-855)GAT>CAT	p.D285H	MTMR11_uc001etm.1_Missense_Mutation_p.D213H|MTMR11_uc010pbm.1_Missense_Mutation_p.D257H|MTMR11_uc010pbn.1_Missense_Mutation_p.D127H	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	285	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---	capture		Missense_Mutation	SNP	149905510	149905510	10333	1	C	G	G	30	30	MTMR11	G	3	3
HRNR	388697	broad.mit.edu	37	1	152190884	152190884	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152190884G>T	uc001ezt.1	-	3	3297	c.3221C>A	c.(3220-3222)TCT>TAT	p.S1074Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1074	12.				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		Missense_Mutation	SNP	152190884	152190884	7653	1	G	T	T	33	33	HRNR	T	2	2
FLG	2312	broad.mit.edu	37	1	152285051	152285051	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152285051G>T	uc001ezu.1	-	3	2347	c.2311C>A	c.(2311-2313)CAT>AAT	p.H771N	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	771	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		Missense_Mutation	SNP	152285051	152285051	6160	1	G	T	T	47	47	FLG	T	2	2
KPRP	448834	broad.mit.edu	37	1	152732412	152732412	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152732412G>T	uc001fal.1	+	2	406	c.348G>T	c.(346-348)GAG>GAT	p.E116D		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	116	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	152732412	152732412	8751	1	G	T	T	35	35	KPRP	T	2	2
PGLYRP4	57115	broad.mit.edu	37	1	153318633	153318633	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153318633C>A	uc001fbo.2	-	3	149	c.84G>T	c.(82-84)CAG>CAT	p.Q28H	PGLYRP4_uc001fbp.2_Missense_Mutation_p.Q28H	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	28					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	153318633	153318633	12219	1	C	A	A	24	24	PGLYRP4	A	2	2
TDRD10	126668	broad.mit.edu	37	1	154479760	154479760	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154479760G>T	uc009wow.2	+	3	884	c.46G>T	c.(46-48)GGG>TGG	p.G16W	TDRD10_uc001ffd.2_Missense_Mutation_p.G16W	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	16							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	154479760	154479760	16257	1	G	T	T	47	47	TDRD10	T	2	2
CLK2	1196	broad.mit.edu	37	1	155239429	155239429	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155239429G>T	uc001fjy.2	-	3	539	c.249C>A	c.(247-249)AGC>AGA	p.S83R	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.S83R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.S83R	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	83						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)										Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Missense_Mutation	SNP	155239429	155239429	3675	1	G	T	T	42	42	CLK2	T	2	2
ARHGEF11	9826	broad.mit.edu	37	1	156954202	156954202	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156954202T>C	uc001fqo.2	-	3	1192	c.152A>G	c.(151-153)CAA>CGA	p.Q51R	ARHGEF11_uc001fqn.2_Missense_Mutation_p.Q51R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	51	PDZ.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156954202	156954202	910	1	T	C	C	63	63	ARHGEF11	C	4	4
FCRL5	83416	broad.mit.edu	37	1	157504490	157504490	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157504490G>A	uc001fqu.2	-	8	1753	c.1595C>T	c.(1594-1596)ACT>ATT	p.T532I	FCRL5_uc009wsm.2_Missense_Mutation_p.T532I|FCRL5_uc010phv.1_Missense_Mutation_p.T532I|FCRL5_uc010phw.1_Missense_Mutation_p.T447I|FCRL5_uc001fqv.1_Missense_Mutation_p.T532I|FCRL5_uc010phx.1_Missense_Mutation_p.T283I	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	532	Extracellular (Potential).|Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---	capture		Missense_Mutation	SNP	157504490	157504490	6035	1	G	A	A	36	36	FCRL5	A	2	2
PYHIN1	149628	broad.mit.edu	37	1	158914791	158914791	+	Nonsense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158914791C>T	uc001ftb.2	+	7	1563	c.1318C>T	c.(1318-1320)CAG>TAG	p.Q440*	PYHIN1_uc001ftc.2_Nonsense_Mutation_p.Q431*|PYHIN1_uc001ftd.2_Nonsense_Mutation_p.Q440*|PYHIN1_uc001fte.2_Nonsense_Mutation_p.Q431*	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	440					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Nonsense_Mutation	SNP	158914791	158914791	13323	1	C	T	T	29	29	PYHIN1	T	5	2
B4GALT3	8703	broad.mit.edu	37	1	161143443	161143443	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161143443G>T	uc001fyq.1	-	6	1017	c.755C>A	c.(754-756)CCC>CAC	p.P252H	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.P32H|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.P252H|B4GALT3_uc001fys.1_Missense_Mutation_p.P252H|B4GALT3_uc009wud.1_3'UTR	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	252	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)													---	---	---	---	capture		Missense_Mutation	SNP	161143443	161143443	1293	1	G	T	T	43	43	B4GALT3	T	2	2
OLFML2B	25903	broad.mit.edu	37	1	161967615	161967615	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161967615C>A	uc001gbu.2	-	6	1898	c.1474G>T	c.(1474-1476)GGA>TGA	p.G492*	OLFML2B_uc010pkq.1_Nonsense_Mutation_p.G493*	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	492										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---	capture		Nonsense_Mutation	SNP	161967615	161967615	11263	1	C	A	A	24	24	OLFML2B	A	5	2
ILDR2	387597	broad.mit.edu	37	1	166908752	166908752	+	Silent	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166908752T>A	uc001gdx.1	-	4	611	c.555A>T	c.(553-555)CCA>CCT	p.P185P		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	185	Extracellular (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	166908752	166908752	8011	1	T	A	A	55	55	ILDR2	A	4	4
LHX4	89884	broad.mit.edu	37	1	180243618	180243618	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180243618C>A	uc001goe.1	+	6	1300	c.1077C>A	c.(1075-1077)CCC>CCA	p.P359P	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	180243618	180243618	9099	1	C	A	A	21	21	LHX4	A	2	2
SMG7	9887	broad.mit.edu	37	1	183511607	183511607	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183511607G>T	uc001gqg.2	+	14	1934	c.1812G>T	c.(1810-1812)CAG>CAT	p.Q604H	SMG7_uc010pob.1_Intron|SMG7_uc001gqf.2_Intron|SMG7_uc001gqh.2_Intron|SMG7_uc001gqi.2_Intron|SMG7_uc010poc.1_Missense_Mutation_p.Q562H	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	604					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	183511607	183511607	15296	1	G	T	T	35	35	SMG7	T	2	2
FAM129A	116496	broad.mit.edu	37	1	184764133	184764133	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184764133G>T	uc001gra.2	-	14	2959	c.2765C>A	c.(2764-2766)CCA>CAA	p.P922Q	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	922					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	184764133	184764133	5633	1	G	T	T	47	47	FAM129A	T	2	2
TPR	7175	broad.mit.edu	37	1	186294905	186294905	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186294905G>C	uc001grv.2	-	42	6400	c.6103C>G	c.(6103-6105)CAA>GAA	p.Q2035E		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2035					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	186294905	186294905	16960	1	G	C	C	45	45	TPR	C	3	3
TPR	7175	broad.mit.edu	37	1	186324872	186324872	+	Silent	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186324872T>C	uc001grv.2	-	16	2214	c.1917A>G	c.(1915-1917)GCA>GCG	p.A639A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	639					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		Silent	SNP	186324872	186324872	16960	1	T	C	C	51	51	TPR	C	4	4
CFHR4	10877	broad.mit.edu	37	1	196882045	196882045	+	Silent	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196882045T>A	uc001gto.2	+	3	501	c.432T>A	c.(430-432)ATT>ATA	p.I144I	CFHR4_uc009wyy.2_Silent_p.I390I|CFHR4_uc001gtp.2_Silent_p.I391I	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	144	Sushi 2.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	196882045	196882045	3420	1	T	A	A	64	64	CFHR4	A	4	4
SHISA4	149345	broad.mit.edu	37	1	201859588	201859588	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201859588G>A	uc001gxa.2	+	3	343	c.252G>A	c.(250-252)AAG>AAA	p.K84K		NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	shisa homolog 4 precursor	84	Extracellular (Potential).					integral to membrane					0																		---	---	---	---	capture		Silent	SNP	201859588	201859588	14774	1	G	A	A	33	33	SHISA4	A	2	2
SYT2	127833	broad.mit.edu	37	1	202571625	202571625	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202571625C>A	uc001gye.2	-	5	707	c.514G>T	c.(514-516)GGA>TGA	p.G172*	SYT2_uc010pqb.1_Nonsense_Mutation_p.G172*|SYT2_uc009xaf.2_Nonsense_Mutation_p.G2*	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	172	Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)													---	---	---	---	capture		Nonsense_Mutation	SNP	202571625	202571625	15995	1	C	A	A	22	22	SYT2	A	5	2
PPFIA4	8497	broad.mit.edu	37	1	203036822	203036822	+	Splice_Site	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203036822G>C	uc001gyz.2	+	13	2126	c.1533_splice	c.e13-1	p.R511_splice	PPFIA4_uc009xaj.2_Splice_Site_p.R1142_splice|PPFIA4_uc010pqf.1_Splice_Site_p.R724_splice|PPFIA4_uc001gza.2_Splice_Site_p.R502_splice|PPFIA4_uc001gzb.1_Splice_Site_p.R197_splice|PPFIA4_uc001gzc.1_Splice_Site_p.R53_splice	NM_015053	NP_055868			protein tyrosine phosphatase, receptor type, f						cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Splice_Site	SNP	203036822	203036822	12742	1	G	C	C	33	33	PPFIA4	C	5	3
CHI3L1	1116	broad.mit.edu	37	1	203153729	203153729	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203153729C>A	uc001gzi.2	-	4	460	c.289G>T	c.(289-291)GGA>TGA	p.G97*	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Nonsense_Mutation_p.G97*	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	97	Chitooligosaccharide binding.				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	203153729	203153729	3474	1	C	A	A	23	23	CHI3L1	A	5	1
PLEKHA6	22874	broad.mit.edu	37	1	204228516	204228516	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204228516C>A	uc001hau.2	-	8	1194	c.877G>T	c.(877-879)GGG>TGG	p.G293W	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	293	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	204228516	204228516	12486	1	C	A	A	21	21	PLEKHA6	A	2	2
AVPR1B	553	broad.mit.edu	37	1	206224482	206224482	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206224482G>T	uc001hds.2	+	1	200	c.42G>T	c.(40-42)CGG>CGT	p.R14R		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	14	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---	capture		Silent	SNP	206224482	206224482	1253	1	G	T	T	43	43	AVPR1B	T	2	2
TMEM206	55248	broad.mit.edu	37	1	212558649	212558649	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212558649G>A	uc001hjc.3	-	4	630	c.462C>T	c.(460-462)ATC>ATT	p.I154I	TMEM206_uc010pte.1_Silent_p.I215I	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	154	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		Silent	SNP	212558649	212558649	16666	1	G	A	A	45	45	TMEM206	A	2	2
USH2A	7399	broad.mit.edu	37	1	216052233	216052233	+	Missense_Mutation	SNP	G	A	A	rs111033529		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216052233G>A	uc001hku.1	-	42	8818	c.8431C>T	c.(8431-8433)CCT>TCT	p.P2811S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2811	Fibronectin type-III 14.|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		Missense_Mutation	SNP	216052233	216052233	17598	1	G	A	A	44	44	USH2A	A	2	2
ESRRG	2104	broad.mit.edu	37	1	216850693	216850693	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216850693C>A	uc001hkw.1	-	2	363	c.197G>T	c.(196-198)GGG>GTG	p.G66V	ESRRG_uc001hky.1_Missense_Mutation_p.G43V|ESRRG_uc009xdp.1_Missense_Mutation_p.G43V|ESRRG_uc001hkz.1_Missense_Mutation_p.G43V|ESRRG_uc010puc.1_Missense_Mutation_p.G43V|ESRRG_uc001hla.1_Missense_Mutation_p.G43V|ESRRG_uc001hlb.1_Missense_Mutation_p.G43V|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G43V|ESRRG_uc001hld.1_Missense_Mutation_p.G43V|ESRRG_uc001hkx.1_Missense_Mutation_p.G71V|ESRRG_uc009xdo.1_Missense_Mutation_p.G43V|ESRRG_uc001hle.1_Missense_Mutation_p.G43V	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	66					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)													---	---	---	---	capture		Missense_Mutation	SNP	216850693	216850693	5455	1	C	A	A	22	22	ESRRG	A	2	2
FBXO28	23219	broad.mit.edu	37	1	224340929	224340929	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224340929G>T	uc001hoh.2	+	4	643	c.602G>T	c.(601-603)AGG>ATG	p.R201M	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_Translation_Start_Site	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	201										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)														---	---	---	---	capture		Missense_Mutation	SNP	224340929	224340929	5975	1	G	T	T	35	35	FBXO28	T	2	2
RAB4A	5867	broad.mit.edu	37	1	229438650	229438650	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229438650G>T	uc001hth.2	+	7	791	c.583G>T	c.(583-585)GGA>TGA	p.G195*	RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA|SPHAR_uc001htk.3_5'Flank	NM_004578	NP_004569	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	190							GDP binding|GTP binding|GTPase activity			ovary(1)	1	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)																---	---	---	---	capture		Nonsense_Mutation	SNP	229438650	229438650	13405	1	G	T	T	39	39	RAB4A	T	5	1
SIPA1L2	57568	broad.mit.edu	37	1	232607249	232607249	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232607249T>C	uc001hvg.2	-	6	2269	c.2111A>G	c.(2110-2112)AAT>AGT	p.N704S		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	704	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---	capture		Missense_Mutation	SNP	232607249	232607249	14825	1	T	C	C	52	52	SIPA1L2	C	4	4
KIAA1383	54627	broad.mit.edu	37	1	232942333	232942333	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232942333C>G	uc001hvh.2	+	1	1696	c.1564C>G	c.(1564-1566)CAA>GAA	p.Q522E		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	380										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)																---	---	---	---	capture		Missense_Mutation	SNP	232942333	232942333	8537	1	C	G	G	29	29	KIAA1383	G	3	3
LYST	1130	broad.mit.edu	37	1	235969397	235969397	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235969397C>A	uc001hxj.2	-	6	3214	c.3039G>T	c.(3037-3039)GAG>GAT	p.E1013D	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.E1013D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1013					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	235969397	235969397	9505	1	C	A	A	24	24	LYST	A	2	2
HEATR1	55127	broad.mit.edu	37	1	236727825	236727825	+	Silent	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236727825G>C	uc001hyd.1	-	32	4697	c.4572C>G	c.(4570-4572)CTC>CTG	p.L1524L	HEATR1_uc009xgh.1_Silent_p.L686L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1524					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---	capture		Silent	SNP	236727825	236727825	7310	1	G	C	C	41	41	HEATR1	C	3	3
ACTN2	88	broad.mit.edu	37	1	236917316	236917316	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236917316C>T	uc001hyf.2	+	16	2113	c.1909C>T	c.(1909-1911)CGT>TGT	p.R637C	ACTN2_uc001hyg.2_Missense_Mutation_p.R429C|ACTN2_uc009xgi.1_Missense_Mutation_p.R637C|ACTN2_uc010pxu.1_Missense_Mutation_p.R326C|ACTN2_uc001hyh.2_Missense_Mutation_p.R325C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	637	Spectrin 4.				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	236917316	236917316	206	1	C	T	T	27	27	ACTN2	T	1	1
ACTN2	88	broad.mit.edu	37	1	236918460	236918460	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236918460C>A	uc001hyf.2	+	17	2320	c.2116C>A	c.(2116-2118)CTT>ATT	p.L706I	ACTN2_uc001hyg.2_Missense_Mutation_p.L498I|ACTN2_uc009xgi.1_Missense_Mutation_p.L706I|ACTN2_uc010pxu.1_Missense_Mutation_p.L395I|ACTN2_uc001hyh.2_Missense_Mutation_p.L394I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	706	Spectrin 4.				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	236918460	236918460	206	1	C	A	A	24	24	ACTN2	A	2	2
MTR	4548	broad.mit.edu	37	1	236973829	236973829	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236973829C>G	uc001hyi.3	+	5	859	c.436C>G	c.(436-438)CTG>GTG	p.L146V	MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.L146V|MTR_uc010pxy.1_Missense_Mutation_p.L146V|MTR_uc009xgj.1_5'UTR	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	146	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---	capture		Missense_Mutation	SNP	236973829	236973829	10351	1	C	G	G	32	32	MTR	G	3	3
FMN2	56776	broad.mit.edu	37	1	240341241	240341241	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240341241G>T	uc010pyd.1	+	3	2028	c.1803G>T	c.(1801-1803)TGG>TGT	p.W601C	FMN2_uc010pye.1_Missense_Mutation_p.W601C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	601					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	240341241	240341241	6192	1	G	T	T	43	43	FMN2	T	2	2
KMO	8564	broad.mit.edu	37	1	241712164	241712164	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241712164G>C	uc009xgp.2	+	2	155	c.90G>C	c.(88-90)AGG>AGC	p.R30S	KMO_uc001hyy.2_Missense_Mutation_p.R30S|KMO_uc009xgo.1_Missense_Mutation_p.R30S	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	30					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)															---	---	---	---	capture		Missense_Mutation	SNP	241712164	241712164	8738	1	G	C	C	41	41	KMO	C	3	3
OR13G1	441933	broad.mit.edu	37	1	247835807	247835807	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247835807G>T	uc001idi.1	-	1	537	c.537C>A	c.(535-537)CCC>CCA	p.P179P		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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;0.017)															---	---	---	---	capture		Silent	SNP	247835807	247835807	11348	1	G	T	T	43	43	OR13G1	T	2	2
OR2T4	127074	broad.mit.edu	37	1	248525429	248525429	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248525429C>T	uc001ieh.1	+	1	547	c.547C>T	c.(547-549)CTG>TTG	p.L183L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	183	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Silent	SNP	248525429	248525429	11433	1	C	T	T	24	24	OR2T4	T	2	2
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	A	A	rs138151830		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248685389G>A	uc001ien.1	+	1	442	c.442G>A	c.(442-444)GCA>ACA	p.A148T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	248685389	248685389	11406	1	G	A	A	34	34	OR2G6	A	2	2
DIP2C	22982	broad.mit.edu	37	10	372998	372998	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:372998C>T	uc001ifp.2	-	31	3962	c.3872G>A	c.(3871-3873)CGG>CAG	p.R1291Q		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1291						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---	capture		Missense_Mutation	SNP	372998	372998	4708	10	C	T	T	23	23	DIP2C	T	1	1
ITIH5	80760	broad.mit.edu	37	10	7608015	7608015	+	Silent	SNP	G	T	T	rs149503594		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7608015G>T	uc001ijq.2	-	13	2584	c.2505C>A	c.(2503-2505)TCC>TCA	p.S835S	ITIH5_uc001ijp.2_Silent_p.S621S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	835					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---	capture		Silent	SNP	7608015	7608015	8211	10	G	T	T	47	47	ITIH5	T	2	2
ITIH5	80760	broad.mit.edu	37	10	7679442	7679442	+	Splice_Site	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7679442C>G	uc001ijq.2	-	5	481	c.402_splice	c.e5-1	p.G134_splice	ITIH5_uc001ijr.1_Splice_Site_p.G134_splice	NM_030569	NP_085046			inter-alpha trypsin inhibitor heavy chain						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---	capture		Splice_Site	SNP	7679442	7679442	8211	10	C	G	G	32	32	ITIH5	G	5	3
TAF3	83860	broad.mit.edu	37	10	8007024	8007024	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8007024C>A	uc010qbd.1	+	3	1551	c.1551C>A	c.(1549-1551)TCC>TCA	p.S517S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	517	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	8007024	8007024	16046	10	C	A	A	24	24	TAF3	A	2	2
USP6NL	9712	broad.mit.edu	37	10	11560559	11560559	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11560559G>T	uc001ikt.3	-	5	491	c.170C>A	c.(169-171)CCA>CAA	p.P57Q	USP6NL_uc001iks.1_Missense_Mutation_p.P74Q	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	57						intracellular	Rab GTPase activator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	11560559	11560559	17651	10	G	T	T	47	47	USP6NL	T	2	2
SPAG6	9576	broad.mit.edu	37	10	22675703	22675703	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22675703G>C	uc001iri.2	+	5	635	c.493G>C	c.(493-495)GAT>CAT	p.D165H	SPAG6_uc001irj.2_Missense_Mutation_p.D165H|SPAG6_uc010qct.1_Missense_Mutation_p.D135H|SPAG6_uc009xkh.2_Missense_Mutation_p.D143H	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	165	ARM 4.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	22675703	22675703	15485	10	G	C	C	41	41	SPAG6	C	3	3
NRP1	8829	broad.mit.edu	37	10	33552639	33552639	+	Nonsense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33552639G>C	uc001iwx.3	-	4	1116	c.593C>G	c.(592-594)TCA>TGA	p.S198*	NRP1_uc001iwv.3_Nonsense_Mutation_p.S198*|NRP1_uc009xlz.2_Nonsense_Mutation_p.S198*|NRP1_uc001iww.3_Nonsense_Mutation_p.S17*|NRP1_uc001iwy.3_Nonsense_Mutation_p.S198*|NRP1_uc001iwz.2_Nonsense_Mutation_p.S198*|NRP1_uc001ixa.2_Nonsense_Mutation_p.S198*|NRP1_uc001ixb.1_Nonsense_Mutation_p.S198*|NRP1_uc001ixc.1_Nonsense_Mutation_p.S198*	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	198	Extracellular (Potential).|CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---	capture		Nonsense_Mutation	SNP	33552639	33552639	11065	10	G	C	C	45	45	NRP1	C	5	3
FXYD4	53828	broad.mit.edu	37	10	43870982	43870982	+	Nonsense_Mutation	SNP	G	T	T	rs140339086		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43870982G>T	uc001jaq.1	+	6	465	c.133G>T	c.(133-135)GGA>TGA	p.G45*		NM_173160	NP_775183	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	45	Helical; (Potential).					integral to membrane					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	43870982	43870982	6371	10	G	T	T	39	39	FXYD4	T	5	1
AGAP7	653268	broad.mit.edu	37	10	51465352	51465352	+	Silent	SNP	C	A	A	rs4043643		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51465352C>A	uc001jio.2	-	7	1230	c.1104G>T	c.(1102-1104)CCG>CCT	p.P368P	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	368	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	51465352	51465352	375	10	C	A	A	27	27	AGAP7	A	1	1
RTKN2	219790	broad.mit.edu	37	10	63958134	63958134	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63958134C>A	uc001jlw.2	-	12	1460	c.1363G>T	c.(1363-1365)GGG>TGG	p.G455W	RTKN2_uc009xpf.1_Missense_Mutation_p.G257W|RTKN2_uc001jlv.2_Missense_Mutation_p.G109W	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	455					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	63958134	63958134	14203	10	C	A	A	21	21	RTKN2	A	2	2
CH25H	9023	broad.mit.edu	37	10	90966727	90966727	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90966727G>A	uc001kfz.2	-	1	345	c.323C>T	c.(322-324)GCC>GTC	p.A108V		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	108					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)														---	---	---	---	capture		Missense_Mutation	SNP	90966727	90966727	3440	10	G	A	A	42	42	CH25H	A	2	2
IFIT1B	439996	broad.mit.edu	37	10	91143729	91143729	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91143729G>T	uc001kgh.2	+	2	739	c.659G>T	c.(658-660)AGG>ATG	p.R220M	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	220							binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	91143729	91143729	7823	10	G	T	T	35	35	IFIT1B	T	2	2
CPEB3	22849	broad.mit.edu	37	10	93841226	93841226	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93841226C>A	uc001khw.1	-	9	1893	c.1720G>T	c.(1720-1722)GGT>TGT	p.G574C	CPEB3_uc001khu.1_Missense_Mutation_p.G583C|CPEB3_uc001khv.1_Missense_Mutation_p.G560C|CPEB3_uc010qnn.1_Missense_Mutation_p.G560C	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	574	RRM 2.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)																---	---	---	---	capture		Missense_Mutation	SNP	93841226	93841226	3940	10	C	A	A	21	21	CPEB3	A	2	2
TMEM20	159371	broad.mit.edu	37	10	95661025	95661025	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95661025G>T	uc001kjg.1	+	3	937	c.876G>T	c.(874-876)GGG>GGT	p.G292G	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.G291G|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.G275G|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	292	DUF6 2.|Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)		STAD - Stomach adenocarcinoma(243;0.00345)														---	---	---	---	capture		Silent	SNP	95661025	95661025	16657	10	G	T	T	42	42	TMEM20	T	2	2
SORBS1	10580	broad.mit.edu	37	10	97154790	97154790	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97154790G>T	uc001kkp.2	-	12	1310	c.1265C>A	c.(1264-1266)CCT>CAT	p.P422H	SORBS1_uc001kkl.2_Missense_Mutation_p.P45H|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Missense_Mutation_p.P278H|SORBS1_uc001kko.2_Missense_Mutation_p.P422H|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Intron|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	422	SoHo.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---	capture		Missense_Mutation	SNP	97154790	97154790	15427	10	G	T	T	35	35	SORBS1	T	2	2
SORBS1	10580	broad.mit.edu	37	10	97170424	97170424	+	Silent	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97170424G>C	uc001kkp.2	-	8	966	c.921C>G	c.(919-921)GTC>GTG	p.V307V	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Silent_p.V140V|SORBS1_uc001kkm.2_Silent_p.V163V|SORBS1_uc001kko.2_Silent_p.V307V|SORBS1_uc001kkq.2_Silent_p.V238V|SORBS1_uc001kkr.2_Silent_p.V143V|SORBS1_uc001kks.2_Silent_p.V143V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.V184V|SORBS1_uc001kkv.2_Silent_p.V275V|SORBS1_uc001kkw.2_Silent_p.V307V|SORBS1_uc010qoe.1_Silent_p.V152V|SORBS1_uc010qof.1_Silent_p.V505V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	307					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---	capture		Silent	SNP	97170424	97170424	15427	10	G	C	C	45	45	SORBS1	C	3	3
SORBS1	10580	broad.mit.edu	37	10	97174525	97174525	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97174525G>C	uc001kkp.2	-	7	581	c.536C>G	c.(535-537)CCT>CGT	p.P179R	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.P179R|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.P147R|SORBS1_uc001kkw.2_Missense_Mutation_p.P179R|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.P377R|SORBS1_uc001kkx.1_Missense_Mutation_p.P147R	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	179					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---	capture		Missense_Mutation	SNP	97174525	97174525	15427	10	G	C	C	35	35	SORBS1	C	3	3
C10orf76	79591	broad.mit.edu	37	10	103751754	103751754	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103751754G>T	uc009xwy.1	-	18	1419	c.1317C>A	c.(1315-1317)CCC>CCA	p.P439P	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	439						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)														---	---	---	---	capture		Silent	SNP	103751754	103751754	1653	10	G	T	T	35	35	C10orf76	T	2	2
PDCD11	22984	broad.mit.edu	37	10	105166544	105166544	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105166544G>A	uc001kwy.1	+	7	954	c.867G>A	c.(865-867)CAG>CAA	p.Q289Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	289	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---	capture		Silent	SNP	105166544	105166544	12038	10	G	A	A	33	33	PDCD11	A	2	2
ITPRIP	85450	broad.mit.edu	37	10	106074526	106074526	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106074526G>A	uc001kye.2	-	2	1357	c.1284C>T	c.(1282-1284)CTC>CTT	p.L428L	ITPRIP_uc001kyf.2_Silent_p.L428L|ITPRIP_uc001kyg.2_Silent_p.L428L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	428						plasma membrane					0																		---	---	---	---	capture		Silent	SNP	106074526	106074526	8227	10	G	A	A	45	45	ITPRIP	A	2	2
NRAP	4892	broad.mit.edu	37	10	115381824	115381824	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115381824A>T	uc001laj.2	-	24	2737	c.2573T>A	c.(2572-2574)CTG>CAG	p.L858Q	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L823Q|NRAP_uc001lal.3_Missense_Mutation_p.L858Q	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	858	Nebulin 21.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---	capture		Missense_Mutation	SNP	115381824	115381824	11043	10	A	T	T	7	7	NRAP	T	4	4
TACC2	10579	broad.mit.edu	37	10	123847002	123847002	+	Nonsense_Mutation	SNP	G	T	T	rs144811256		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123847002G>T	uc001lfv.2	+	4	5347	c.4987G>T	c.(4987-4989)GGA>TGA	p.G1663*	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Nonsense_Mutation_p.G1663*|TACC2_uc010qtv.1_Nonsense_Mutation_p.G1663*	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1663						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---	capture		Nonsense_Mutation	SNP	123847002	123847002	16023	10	G	T	T	39	39	TACC2	T	5	1
DHX32	55760	broad.mit.edu	37	10	127555576	127555576	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127555576G>T	uc001ljf.1	-	2	950	c.459C>A	c.(457-459)ACC>ACA	p.T153T	DHX32_uc001ljg.1_Silent_p.T153T	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	153	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---	capture		Silent	SNP	127555576	127555576	4684	10	G	T	T	47	47	DHX32	T	2	2
LRRC27	80313	broad.mit.edu	37	10	134175013	134175013	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134175013C>A	uc010quw.1	+	9	1418	c.1223C>A	c.(1222-1224)CCA>CAA	p.P408Q	LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.P408Q|LRRC27_uc001llj.2_Missense_Mutation_p.P346Q|LRRC27_uc001llk.3_Missense_Mutation_p.P281Q	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	408										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)														---	---	---	---	capture		Missense_Mutation	SNP	134175013	134175013	9356	10	C	A	A	21	21	LRRC27	A	2	2
OR51G1	79324	broad.mit.edu	37	11	4945326	4945326	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4945326T>C	uc010qyr.1	-	1	244	c.244A>G	c.(244-246)ACT>GCT	p.T82A		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4945326	4945326	11508	11	T	C	C	59	59	OR51G1	C	4	4
HPX	3263	broad.mit.edu	37	11	6452991	6452991	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6452991G>T	uc001mdg.2	-	9	1070	c.1009C>A	c.(1009-1011)CTA>ATA	p.L337I	HPX_uc001mdf.2_Missense_Mutation_p.L83I|HPX_uc009yfc.2_RNA	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	337	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	6452991	6452991	7638	11	G	T	T	35	35	HPX	T	2	2
DCHS1	8642	broad.mit.edu	37	11	6648290	6648290	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6648290C>A	uc001mem.1	-	14	6390	c.5980G>T	c.(5980-5982)GGT>TGT	p.G1994C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1994	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6648290	6648290	4458	11	C	A	A	21	21	DCHS1	A	2	2
NLRP10	338322	broad.mit.edu	37	11	7982058	7982058	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7982058C>G	uc001mfv.1	-	2	1118	c.1101G>C	c.(1099-1101)CAG>CAC	p.Q367H		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	367	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	7982058	7982058	10875	11	C	G	G	32	32	NLRP10	G	3	3
DENND5A	23258	broad.mit.edu	37	11	9164270	9164270	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9164270C>A	uc001mhl.2	-	21	3765	c.3510G>T	c.(3508-3510)CTG>CTT	p.L1170L	DENND5A_uc001mhk.2_Silent_p.L513L|DENND5A_uc010rbw.1_Silent_p.L1170L	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1170	RUN 2.									liver(1)	1																		---	---	---	---	capture		Silent	SNP	9164270	9164270	4615	11	C	A	A	21	21	DENND5A	A	2	2
MICAL2	9645	broad.mit.edu	37	11	12280014	12280014	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12280014G>T	uc001mjz.2	+	25	3431	c.3143_splice	c.e25-1	p.G1048_splice	MICAL2_uc010rch.1_Splice_Site_p.G858_splice|MICAL2_uc001mka.2_Splice_Site_p.G1048_splice|MICAL2_uc010rci.1_Splice_Site_p.G1027_splice|MICAL2_uc001mkb.2_Splice_Site_p.G822_splice|MICAL2_uc001mkc.2_Splice_Site_p.G801_splice|MICAL2_uc001mkd.2_Splice_Site_p.G630_splice|MICAL2_uc010rcj.1_Splice_Site_p.G260_splice|MICAL2_uc001mkf.2_Splice_Site	NM_014632	NP_055447			microtubule associated monoxygenase, calponin							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)														---	---	---	---	capture		Splice_Site	SNP	12280014	12280014	9960	11	G	T	T	35	35	MICAL2	T	5	2
C11orf58	10944	broad.mit.edu	37	11	16766187	16766187	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16766187G>A	uc001mmk.2	+	2	281	c.103G>A	c.(103-105)GAA>AAA	p.E35K	C11orf58_uc010rct.1_5'UTR	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	35											0																		---	---	---	---	capture		Missense_Mutation	SNP	16766187	16766187	1690	11	G	A	A	45	45	C11orf58	A	2	2
DBX1	120237	broad.mit.edu	37	11	20177793	20177793	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20177793C>A	uc001mpw.1	-	4	1116	c.1116G>T	c.(1114-1116)GAG>GAT	p.E372D		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	333	Poly-Glu.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20177793	20177793	4430	11	C	A	A	24	24	DBX1	A	2	2
TRIM48	79097	broad.mit.edu	37	11	55032762	55032762	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55032762C>A	uc010rid.1	+	2	517	c.431C>A	c.(430-432)CCC>CAC	p.P144H		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	128	B box-type.					intracellular	zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	55032762	55032762	17068	11	C	A	A	22	22	TRIM48	A	2	2
OR5D13	390142	broad.mit.edu	37	11	55541450	55541450	+	Silent	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541450T>C	uc010ril.1	+	1	537	c.537T>C	c.(535-537)TTT>TTC	p.F179F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)																---	---	---	---	capture		Silent	SNP	55541450	55541450	11564	11	T	C	C	61	61	OR5D13	C	4	4
OR5R1	219479	broad.mit.edu	37	11	56184925	56184925	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56184925G>C	uc010rji.1	-	1	784	c.784C>G	c.(784-786)CCC>GCC	p.P262A		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56184925	56184925	11590	11	G	C	C	42	42	OR5R1	C	3	3
OR5M1	390168	broad.mit.edu	37	11	56380709	56380709	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56380709C>A	uc001nja.1	-	1	270	c.270G>T	c.(268-270)AAG>AAT	p.K90N		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	56380709	56380709	11582	11	C	A	A	32	32	OR5M1	A	2	2
OR5AR1	219493	broad.mit.edu	37	11	56431846	56431846	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56431846C>T	uc010rjm.1	+	1	685	c.685C>T	c.(685-687)CGT>TGT	p.R229C		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	56431846	56431846	11555	11	C	T	T	27	27	OR5AR1	T	1	1
MS4A2	2206	broad.mit.edu	37	11	59857872	59857872	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59857872G>C	uc001nop.2	+	3	352	c.250G>C	c.(250-252)GAT>CAT	p.D84H	MS4A2_uc009ymu.2_Missense_Mutation_p.D84H	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	84	Extracellular (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)													---	---	---	---	capture		Missense_Mutation	SNP	59857872	59857872	10253	11	G	C	C	45	45	MS4A2	C	3	3
MS4A13	503497	broad.mit.edu	37	11	60310041	60310041	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60310041C>T	uc001nps.2	+	7	775	c.452C>T	c.(451-453)ACT>ATT	p.T151I	MS4A13_uc009ync.2_Missense_Mutation_p.T111I|MS4A13_uc009ynd.2_Missense_Mutation_p.T92I	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	151						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	60310041	60310041	10250	11	C	T	T	20	20	MS4A13	T	2	2
CD5	921	broad.mit.edu	37	11	60885811	60885811	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60885811G>T	uc009ynk.2	+	3	362	c.259G>T	c.(259-261)GGG>TGG	p.G87W		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	87	Extracellular (Potential).|SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)														---	---	---	---	capture		Missense_Mutation	SNP	60885811	60885811	3149	11	G	T	T	47	47	CD5	T	2	2
MTA2	9219	broad.mit.edu	37	11	62365843	62365843	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62365843G>T	uc001ntq.1	-	5	709	c.328C>A	c.(328-330)CTC>ATC	p.L110I	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	110	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	62365843	62365843	10302	11	G	T	T	35	35	MTA2	T	2	2
CCDC88B	283234	broad.mit.edu	37	11	64124516	64124516	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64124516G>T	uc001nzy.2	+	27	4425	c.4381G>T	c.(4381-4383)GAG>TAG	p.E1461*	CCDC88B_uc001oaa.2_Silent_p.L565L|CCDC88B_uc001oab.1_3'UTR|CCDC88B_uc001oac.2_Silent_p.L76L|RPS6KA4_uc001oad.2_5'Flank|RPS6KA4_uc001oae.2_5'Flank|RPS6KA4_uc010rnl.1_5'Flank|RPS6KA4_uc001oaf.2_5'Flank|RPS6KA4_uc009ypp.2_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1461					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	64124516	64124516	2989	11	G	T	T	45	45	CCDC88B	T	5	2
ATG2A	23130	broad.mit.edu	37	11	64664289	64664289	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64664289C>T	uc001obx.2	-	38	5318	c.5203G>A	c.(5203-5205)GAC>AAC	p.D1735N	ATG2A_uc001obw.2_Missense_Mutation_p.D500N	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735							protein binding			ovary(1)|central_nervous_system(1)	2																OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Missense_Mutation	SNP	64664289	64664289	1112	11	C	T	T	30	30	ATG2A	T	2	2
SLC29A2	3177	broad.mit.edu	37	11	66136889	66136889	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66136889G>T	uc001oht.2	-	3	455	c.226C>A	c.(226-228)CAG>AAG	p.Q76K	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.Q76K|SLC29A2_uc001ohv.2_Missense_Mutation_p.Q76K|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	76	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	66136889	66136889	15032	11	G	T	T	47	47	SLC29A2	T	2	2
C11orf80	79703	broad.mit.edu	37	11	66555707	66555707	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66555707G>A	uc001ojf.2	+	5	607	c.600G>A	c.(598-600)ATG>ATA	p.M200I	C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Missense_Mutation_p.M34I	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	45											0																		---	---	---	---	capture		Missense_Mutation	SNP	66555707	66555707	1703	11	G	A	A	45	45	C11orf80	A	2	2
PC	5091	broad.mit.edu	37	11	66631415	66631415	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66631415C>A	uc001ojn.1	-	10	1247	c.1198G>T	c.(1198-1200)GGA>TGA	p.G400*	PC_uc001ojo.1_Nonsense_Mutation_p.G400*|PC_uc001ojp.1_Nonsense_Mutation_p.G400*	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	400	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---	capture		Nonsense_Mutation	SNP	66631415	66631415	11917	11	C	A	A	23	23	PC	A	5	1
PPFIA1	8500	broad.mit.edu	37	11	70171654	70171654	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70171654G>T	uc001opo.2	+	5	778	c.580G>T	c.(580-582)GAG>TAG	p.E194*	PPFIA1_uc001opn.1_Nonsense_Mutation_p.E194*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	194	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Nonsense_Mutation	SNP	70171654	70171654	12739	11	G	T	T	33	33	PPFIA1	T	5	2
KRTAP5-7	440050	broad.mit.edu	37	11	71238668	71238668	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71238668G>T	uc001oqq.1	+	1	356	c.322G>T	c.(322-324)GGG>TGG	p.G108W		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	108	7 X 4 AA repeats of C-C-X-P.					keratin filament					0																		---	---	---	---	capture		Missense_Mutation	SNP	71238668	71238668	8888	11	G	T	T	47	47	KRTAP5-7	T	2	2
ATG16L2	89849	broad.mit.edu	37	11	72539821	72539821	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72539821G>T	uc001otd.2	+	16	1710	c.1670G>T	c.(1669-1671)AGC>ATC	p.S557I	ATG16L2_uc001ote.2_Missense_Mutation_p.S451I|ATG16L2_uc009ytj.1_3'UTR|ATG16L2_uc001otf.2_Missense_Mutation_p.S312I|ATG16L2_uc001otg.2_Missense_Mutation_p.S291I|ATG16L2_uc009ytk.2_Missense_Mutation_p.S312I	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	557	WD 6.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)															---	---	---	---	capture		Missense_Mutation	SNP	72539821	72539821	1111	11	G	T	T	35	35	ATG16L2	T	2	2
PAAF1	80227	broad.mit.edu	37	11	73620623	73620623	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73620623C>A	uc001ouk.1	+	7	746	c.712C>A	c.(712-714)CCT>ACT	p.P238T	PAAF1_uc001oul.1_Missense_Mutation_p.P221T|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.P221T	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	238					interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	73620623	73620623	11775	11	C	A	A	22	22	PAAF1	A	2	2
AQP11	282679	broad.mit.edu	37	11	77301476	77301476	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77301476C>T	uc001oyj.2	+	1	797	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	147						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)															---	---	---	---	capture		Missense_Mutation	SNP	77301476	77301476	834	11	C	T	T	29	29	AQP11	T	2	2
GRM5	2915	broad.mit.edu	37	11	88780767	88780767	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88780767C>A	uc001pcq.2	-	1	474	c.274G>T	c.(274-276)GGC>TGC	p.G92C	GRM5_uc009yvm.2_Missense_Mutation_p.G92C|GRM5_uc009yvn.1_Missense_Mutation_p.G92C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	92	Extracellular (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	p.G92R(1)		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	88780767	88780767	7079	11	C	A	A	22	22	GRM5	A	2	2
TRPC6	7225	broad.mit.edu	37	11	101362388	101362388	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101362388C>A	uc001pgk.3	-	3	1452	c.1027G>T	c.(1027-1029)GAG>TAG	p.E343*	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Nonsense_Mutation_p.E343*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	343	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)														---	---	---	---	capture		Nonsense_Mutation	SNP	101362388	101362388	17134	11	C	A	A	31	31	TRPC6	A	5	1
BIRC3	330	broad.mit.edu	37	11	102201750	102201750	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102201750G>A	uc001pgx.2	+	7	1324	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	368					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	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)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)				T	MALT1	MALT								---	---	---	---	capture		Missense_Mutation	SNP	102201750	102201750	1461	11	G	A	A	33	33	BIRC3	A	2	2
BIRC3	330	broad.mit.edu	37	11	102201903	102201903	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102201903G>C	uc001pgx.2	+	7	1477	c.1255G>C	c.(1255-1257)GAC>CAC	p.D419H		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	419					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	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)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)				T	MALT1	MALT								---	---	---	---	capture		Missense_Mutation	SNP	102201903	102201903	1461	11	G	C	C	33	33	BIRC3	C	3	3
NCAM1	4684	broad.mit.edu	37	11	113103058	113103058	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113103058C>A	uc009yyq.1	+	12	1825	c.1131C>A	c.(1129-1131)CCC>CCA	p.P377P		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	469	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)														---	---	---	---	capture		Silent	SNP	113103058	113103058	10601	11	C	A	A	24	24	NCAM1	A	2	2
TMPRSS5	80975	broad.mit.edu	37	11	113568023	113568023	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113568023C>A	uc001poc.3	-	5	568	c.446G>T	c.(445-447)TGG>TTG	p.W149L	TMPRSS5_uc009yys.2_Missense_Mutation_p.W140L|TMPRSS5_uc009yyt.2_Missense_Mutation_p.W105L|TMPRSS5_uc001pod.3_5'UTR|TMPRSS5_uc010rww.1_Missense_Mutation_p.W139L|TMPRSS5_uc009yyu.2_5'UTR|TMPRSS5_uc010rwx.1_Missense_Mutation_p.W105L	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	149	SRCR.|Extracellular (Potential).				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)	1		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)														---	---	---	---	capture		Missense_Mutation	SNP	113568023	113568023	16791	11	C	A	A	21	21	TMPRSS5	A	2	2
TMPRSS5	80975	broad.mit.edu	37	11	113570845	113570845	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113570845C>T	uc001poc.3	-	2	171	c.49G>A	c.(49-51)GAG>AAG	p.E17K	TMPRSS5_uc009yys.2_5'UTR|TMPRSS5_uc009yyt.2_Intron|TMPRSS5_uc001pod.3_Intron|TMPRSS5_uc010rww.1_Missense_Mutation_p.E7K|TMPRSS5_uc009yyu.2_Intron|TMPRSS5_uc010rwx.1_Intron	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	17	Cytoplasmic (Potential).				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)	1		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)														---	---	---	---	capture		Missense_Mutation	SNP	113570845	113570845	16791	11	C	T	T	32	32	TMPRSS5	T	2	2
HTR3A	3359	broad.mit.edu	37	11	113853852	113853852	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113853852G>T	uc010rxb.1	+	5	636	c.403G>T	c.(403-405)GGG>TGG	p.G135W	HTR3A_uc010rxa.1_Missense_Mutation_p.G135W|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.G114W	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	129	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)													---	---	---	---	capture		Missense_Mutation	SNP	113853852	113853852	7744	11	G	T	T	43	43	HTR3A	T	2	2
SIDT2	51092	broad.mit.edu	37	11	117063911	117063911	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117063911C>A	uc001pqh.1	+	23	2189	c.2148C>A	c.(2146-2148)TCC>TCA	p.S716S	SIDT2_uc010rxe.1_Silent_p.S716S|SIDT2_uc001pqg.2_Silent_p.S737S|SIDT2_uc001pqi.1_Silent_p.S713S|SIDT2_uc001pqj.1_Silent_p.S28S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	716	Helical; (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)														---	---	---	---	capture		Silent	SNP	117063911	117063911	14798	11	C	A	A	24	24	SIDT2	A	2	2
RNF214	257160	broad.mit.edu	37	11	117153509	117153509	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117153509C>G	uc001pqt.2	+	13	1938	c.1893C>G	c.(1891-1893)ATC>ATG	p.I631M	RNF214_uc001pqu.2_Missense_Mutation_p.I631M|RNF214_uc010rxf.1_Missense_Mutation_p.I476M	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	631							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---	capture		Missense_Mutation	SNP	117153509	117153509	13956	11	C	G	G	29	29	RNF214	G	3	3
DSCAML1	57453	broad.mit.edu	37	11	117352798	117352798	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117352798C>A	uc001prh.1	-	12	2621	c.2619G>T	c.(2617-2619)CGG>CGT	p.R873R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	813	Extracellular (Potential).|Ig-like C2-type 9.				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	117352798	117352798	4953	11	C	A	A	22	22	DSCAML1	A	2	2
TMPRSS13	84000	broad.mit.edu	37	11	117785148	117785148	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117785148C>A	uc001prs.1	-	4	731	c.638G>T	c.(637-639)GGG>GTG	p.G213V	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.G213V	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	208	Extracellular (Potential).|SRCR.|LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)														---	---	---	---	capture		Missense_Mutation	SNP	117785148	117785148	16786	11	C	A	A	22	22	TMPRSS13	A	2	2
IL10RA	3587	broad.mit.edu	37	11	117869536	117869536	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117869536C>A	uc001prv.2	+	7	994	c.917C>A	c.(916-918)CCA>CAA	p.P306Q	IL10RA_uc010rxl.1_Missense_Mutation_p.P286Q|IL10RA_uc010rxm.1_Missense_Mutation_p.P286Q|IL10RA_uc010rxn.1_Missense_Mutation_p.P157Q|IL10RA_uc001prw.2_Missense_Mutation_p.P157Q	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	306	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)														---	---	---	---	capture		Missense_Mutation	SNP	117869536	117869536	7921	11	C	A	A	21	21	IL10RA	A	2	2
HYOU1	10525	broad.mit.edu	37	11	118925982	118925982	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118925982G>T	uc001puu.2	-	5	527	c.334C>A	c.(334-336)CAT>AAT	p.H112N	HYOU1_uc001put.2_Missense_Mutation_p.H77N|HYOU1_uc010ryu.1_Missense_Mutation_p.H132N|HYOU1_uc010ryv.1_Intron|HYOU1_uc001pux.3_Missense_Mutation_p.H112N|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.H112N	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	112						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118925982	118925982	7770	11	G	T	T	47	47	HYOU1	T	2	2
VPS11	55823	broad.mit.edu	37	11	118949976	118949976	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118949976C>A	uc010ryx.1	+	15	2446	c.2404C>A	c.(2404-2406)CGT>AGT	p.R802S	VPS11_uc010ryy.1_Missense_Mutation_p.R648S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	802	Potential.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118949976	118949976	17755	11	C	A	A	23	23	VPS11	A	1	1
USP2	9099	broad.mit.edu	37	11	119228484	119228484	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119228484G>T	uc001pwm.3	-	10	1779	c.1484C>A	c.(1483-1485)CCA>CAA	p.P495Q	USP2_uc001pwl.3_Missense_Mutation_p.P286Q|USP2_uc001pwn.3_Missense_Mutation_p.P252Q	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	495	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)														---	---	---	---	capture		Missense_Mutation	SNP	119228484	119228484	17614	11	G	T	T	47	47	USP2	T	2	2
GRIK4	2900	broad.mit.edu	37	11	120776023	120776023	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120776023G>T	uc001pxn.2	+	13	1584	c.1297G>T	c.(1297-1299)GGG>TGG	p.G433W	GRIK4_uc009zav.1_Missense_Mutation_p.G433W|GRIK4_uc009zaw.1_Missense_Mutation_p.G433W|GRIK4_uc009zax.1_Missense_Mutation_p.G433W	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	433	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	120776023	120776023	7055	11	G	T	T	43	43	GRIK4	T	2	2
SORL1	6653	broad.mit.edu	37	11	121358888	121358888	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121358888C>A	uc001pxx.2	+	4	756	c.676C>A	c.(676-678)CAC>AAC	p.H226N		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	226	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---	capture		Missense_Mutation	SNP	121358888	121358888	15434	11	C	A	A	21	21	SORL1	A	2	2
SPA17	53340	broad.mit.edu	37	11	124545209	124545209	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124545209G>T	uc001qap.2	+	2	185	c.49G>T	c.(49-51)GGG>TGG	p.G17W	SIAE_uc001qan.2_5'Flank|SIAE_uc001qao.1_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	17					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)														---	---	---	---	capture		Missense_Mutation	SNP	124545209	124545209	15472	11	G	T	T	47	47	SPA17	T	2	2
VSIG2	23584	broad.mit.edu	37	11	124617436	124617436	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124617436C>A	uc001qas.2	-	7	1055	c.979G>T	c.(979-981)GTG>TTG	p.V327L		NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	327	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)														---	---	---	---	capture		Missense_Mutation	SNP	124617436	124617436	17792	11	C	A	A	19	19	VSIG2	A	1	1
ADAMTS8	11095	broad.mit.edu	37	11	130286835	130286835	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130286835C>G	uc001qgg.3	-	3	1454	c.1096G>C	c.(1096-1098)GGG>CGG	p.G366R		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	366	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)														---	---	---	---	capture		Missense_Mutation	SNP	130286835	130286835	273	11	C	G	G	24	24	ADAMTS8	G	3	3
WNK1	65125	broad.mit.edu	37	12	1005676	1005676	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1005676A>G	uc001qio.3	+	24	6530	c.6023A>G	c.(6022-6024)AAT>AGT	p.N2008S	WNK1_uc001qip.3_Missense_Mutation_p.N1760S|WNK1_uc001qir.3_Missense_Mutation_p.N1181S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2008					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	1005676	1005676	17951	12	A	G	G	4	4	WNK1	G	4	4
CHD4	1108	broad.mit.edu	37	12	6690856	6690856	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6690856C>A	uc001qpo.2	-	31	4804	c.4640G>T	c.(4639-4641)GGG>GTG	p.G1547V	CHD4_uc001qpn.2_Missense_Mutation_p.G1540V|CHD4_uc001qpp.2_Missense_Mutation_p.G1572V|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1547					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	6690856	6690856	3461	12	C	A	A	22	22	CHD4	A	2	2
LPAR5	57121	broad.mit.edu	37	12	6730124	6730124	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6730124C>A	uc009zer.2	-	2	572	c.291G>T	c.(289-291)ACG>ACT	p.T97T	LPAR5_uc001qps.2_Silent_p.T97T|LPAR5_uc010sff.1_Silent_p.T97T	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	97	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	6730124	6730124	9281	12	C	A	A	23	23	LPAR5	A	1	1
USP5	8078	broad.mit.edu	37	12	6965192	6965192	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6965192G>T	uc001qri.3	+	4	375	c.316G>T	c.(316-318)GGA>TGA	p.G106*	USP5_uc001qrh.3_Nonsense_Mutation_p.G106*	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	106					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	6965192	6965192	17645	12	G	T	T	39	39	USP5	T	5	1
A2ML1	144568	broad.mit.edu	37	12	8975787	8975787	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8975787G>T	uc001quz.3	+	2	170	c.72G>T	c.(70-72)CTG>CTT	p.L24L		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	Error:Variant_position_missing_in_B3KVV6_after_alignment						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	8975787	8975787	6	12	G	T	T	47	47	A2ML1	T	2	2
A2ML1	144568	broad.mit.edu	37	12	8990062	8990062	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8990062G>T	uc001quz.3	+	8	853	c.755G>T	c.(754-756)GGG>GTG	p.G252V		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	96						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	8990062	8990062	6	12	G	T	T	43	43	A2ML1	T	2	2
TAS2R42	353164	broad.mit.edu	37	12	11339450	11339450	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11339450A>T	uc001qzr.1	-	1	94	c.94T>A	c.(94-96)TGC>AGC	p.C32S	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	32	Cytoplasmic (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	11339450	11339450	16102	12	A	T	T	7	7	TAS2R42	T	4	4
PRB4	5545	broad.mit.edu	37	12	11461631	11461631	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11461631G>C	uc001qzf.1	-	3	320	c.286C>G	c.(286-288)CCA>GCA	p.P96A	PRB4_uc001qzt.2_Missense_Mutation_p.P96A	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	117	4.|9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				ovary(1)	1															HNSCC(22;0.051)			---	---	---	---	capture		Missense_Mutation	SNP	11461631	11461631	12887	12	G	C	C	41	41	PRB4	C	3	3
PLBD1	79887	broad.mit.edu	37	12	14688595	14688595	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14688595G>T	uc001rcc.1	-	6	1003	c.842C>A	c.(841-843)CCA>CAA	p.P281Q		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	281					lipid catabolic process	extracellular region	hydrolase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	14688595	14688595	12451	12	G	T	T	47	47	PLBD1	T	2	2
CMAS	55907	broad.mit.edu	37	12	22208428	22208428	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22208428G>A	uc001rfm.2	+	3	522	c.443G>A	c.(442-444)TGT>TAT	p.C148Y	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	148					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	22208428	22208428	3713	12	G	A	A	48	48	CMAS	A	2	2
PRICKLE1	144165	broad.mit.edu	37	12	42853690	42853690	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42853690G>T	uc010skv.1	-	8	2704	c.2417C>A	c.(2416-2418)CCC>CAC	p.P806H	PRICKLE1_uc001rnl.2_Missense_Mutation_p.P806H|PRICKLE1_uc010skw.1_Missense_Mutation_p.P806H|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P806H|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	806					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	42853690	42853690	12929	12	G	T	T	43	43	PRICKLE1	T	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43833468	43833468	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43833468C>A	uc010skx.1	-	18	2550	c.2550G>T	c.(2548-2550)TGG>TGT	p.W850C	ADAMTS20_uc001rno.1_Missense_Mutation_p.W4C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W4C	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	850	TSP type-1 2.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)														---	---	---	---	capture		Missense_Mutation	SNP	43833468	43833468	267	12	C	A	A	22	22	ADAMTS20	A	2	2
MLL2	8085	broad.mit.edu	37	12	49441761	49441761	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49441761C>A	uc001rta.3	-	14	4223	c.4223G>T	c.(4222-4224)TGT>TTT	p.C1408F		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1408	Cys-rich.|PHD-type 3.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	49441761	49441761	10011	12	C	A	A	17	17	MLL2	A	2	2
MLL2	8085	broad.mit.edu	37	12	49443899	49443899	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49443899C>A	uc001rta.3	-	11	3472	c.3472G>T	c.(3472-3474)GAG>TAG	p.E1158*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1158	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture		Nonsense_Mutation	SNP	49443899	49443899	10011	12	C	A	A	31	31	MLL2	A	5	1
TROAP	10024	broad.mit.edu	37	12	49723015	49723015	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49723015C>A	uc001rtx.3	+	10	1259	c.1092C>A	c.(1090-1092)CCC>CCA	p.P364P	TROAP_uc009zlh.2_Silent_p.P364P|TROAP_uc001rty.2_Silent_p.P72P	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	364					cell adhesion	cytoplasm				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	49723015	49723015	17126	12	C	A	A	21	21	TROAP	A	2	2
FAM186B	84070	broad.mit.edu	37	12	49994305	49994305	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49994305G>T	uc001ruo.2	-	4	1291	c.1118C>A	c.(1117-1119)CCA>CAA	p.P373Q	FAM186B_uc010smk.1_Missense_Mutation_p.P283Q	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	373						protein complex				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	49994305	49994305	5722	12	G	T	T	47	47	FAM186B	T	2	2
SCN8A	6334	broad.mit.edu	37	12	52162746	52162746	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52162746C>A	uc001ryw.2	+	17	3177	c.2999C>A	c.(2998-3000)TCA>TAA	p.S1000*	SCN8A_uc010snl.1_Nonsense_Mutation_p.S865*	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1000	II.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)													---	---	---	---	capture		Nonsense_Mutation	SNP	52162746	52162746	14406	12	C	A	A	29	29	SCN8A	A	5	2
KRT84	3890	broad.mit.edu	37	12	52778922	52778922	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52778922G>T	uc001sah.1	-	1	496	c.448C>A	c.(448-450)CTC>ATC	p.L150I		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	150	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	52778922	52778922	8813	12	G	T	T	35	35	KRT84	T	2	2
RDH5	5959	broad.mit.edu	37	12	56115129	56115129	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56115129G>C	uc001shk.2	+	2	344	c.161G>C	c.(160-162)CGA>CCA	p.R54P	BLOC1S1_uc001shj.3_Intron|RDH5_uc010spt.1_Missense_Mutation_p.R54P|RDH5_uc010spu.1_5'UTR|RDH5_uc001shl.2_Missense_Mutation_p.R54P	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	54	NADP (By similarity).				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	56115129	56115129	13664	12	G	C	C	37	37	RDH5	C	3	3
DGKA	1606	broad.mit.edu	37	12	56347166	56347166	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56347166G>T	uc001sij.2	+	23	2360	c.2096G>T	c.(2095-2097)GGA>GTA	p.G699V	DGKA_uc001sik.2_Missense_Mutation_p.G699V|DGKA_uc001sil.2_Missense_Mutation_p.G699V|DGKA_uc001sim.2_Missense_Mutation_p.G699V|DGKA_uc001sin.2_Missense_Mutation_p.G699V|DGKA_uc009zof.2_Missense_Mutation_p.G345V|DGKA_uc001sio.2_Missense_Mutation_p.G441V	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	699				G -> V (in Ref. 1; CAA44396).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	56347166	56347166	4644	12	G	T	T	41	41	DGKA	T	2	2
ANKRD52	283373	broad.mit.edu	37	12	56645804	56645804	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56645804G>A	uc001skm.3	-	15	1677	c.1587C>T	c.(1585-1587)GCC>GCT	p.A529A		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	529	ANK 15.						protein binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	56645804	56645804	686	12	G	A	A	35	35	ANKRD52	A	2	2
INHBC	3626	broad.mit.edu	37	12	57843575	57843575	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57843575A>T	uc001snv.1	+	2	956	c.829A>T	c.(829-831)ATA>TTA	p.I277L		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	277					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	57843575	57843575	8044	12	A	T	T	8	8	INHBC	T	4	4
GLI1	2735	broad.mit.edu	37	12	57859691	57859691	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57859691C>A	uc001snx.2	+	7	823	c.745C>A	c.(745-747)CAA>AAA	p.Q249K	GLI1_uc009zpq.2_Missense_Mutation_p.Q121K	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	249	C2H2-type 1.				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)															---	---	---	---	capture		Missense_Mutation	SNP	57859691	57859691	6705	12	C	A	A	21	21	GLI1	A	2	2
MON2	23041	broad.mit.edu	37	12	62954451	62954451	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62954451T>C	uc001sre.2	+	26	3981	c.3590T>C	c.(3589-3591)GTT>GCT	p.V1197A	MON2_uc009zqj.2_Missense_Mutation_p.V1197A|MON2_uc010ssl.1_Missense_Mutation_p.V1125A|MON2_uc010ssm.1_Missense_Mutation_p.V1174A|MON2_uc010ssn.1_Missense_Mutation_p.V1197A|MON2_uc001srf.2_Missense_Mutation_p.V960A|MON2_uc001srg.2_Missense_Mutation_p.V72A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1198					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	62954451	62954451	10091	12	T	C	C	60	60	MON2	C	4	4
SRGAP1	57522	broad.mit.edu	37	12	64519798	64519798	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64519798G>T	uc010ssp.1	+	19	2322	c.2266G>T	c.(2266-2268)GGG>TGG	p.G756W	SRGAP1_uc001srv.2_Missense_Mutation_p.G693W	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	756	SH3.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)														---	---	---	---	capture		Missense_Mutation	SNP	64519798	64519798	15659	12	G	T	T	47	47	SRGAP1	T	2	2
PTPRB	5787	broad.mit.edu	37	12	70933760	70933760	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70933760C>A	uc001swb.3	-	22	5013	c.4983G>T	c.(4981-4983)AGG>AGT	p.R1661S	PTPRB_uc010sto.1_Missense_Mutation_p.R1571S|PTPRB_uc010stp.1_Missense_Mutation_p.R1571S|PTPRB_uc001swc.3_Missense_Mutation_p.R1879S|PTPRB_uc001swa.3_Missense_Mutation_p.R1791S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1661	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)															---	---	---	---	capture		Missense_Mutation	SNP	70933760	70933760	13253	12	C	A	A	22	22	PTPRB	A	2	2
SLC6A15	55117	broad.mit.edu	37	12	85255533	85255533	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85255533C>A	uc001szv.2	-	12	2564	c.2071G>T	c.(2071-2073)GGT>TGT	p.G691C	SLC6A15_uc010sul.1_Missense_Mutation_p.G584C|SLC6A15_uc001szw.1_3'UTR	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	691	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	85255533	85255533	15175	12	C	A	A	21	21	SLC6A15	A	2	2
CEP290	80184	broad.mit.edu	37	12	88449427	88449427	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88449427G>T	uc001tar.2	-	50	7230	c.6886C>A	c.(6886-6888)CTT>ATT	p.L2296I	CEP290_uc001taq.2_Missense_Mutation_p.L1356I|uc001tas.2_Intron	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2296	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	88449427	88449427	3386	12	G	T	T	35	35	CEP290	T	2	2
CEP290	80184	broad.mit.edu	37	12	88479931	88479931	+	Nonsense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88479931G>C	uc001tar.2	-	34	4666	c.4322C>G	c.(4321-4323)TCA>TGA	p.S1441*	CEP290_uc001taq.2_Nonsense_Mutation_p.S501*	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1441	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---	capture		Nonsense_Mutation	SNP	88479931	88479931	3386	12	G	C	C	45	45	CEP290	C	5	3
LUM	4060	broad.mit.edu	37	12	91501991	91501991	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:91501991G>T	uc001tbm.2	-	2	1155	c.766C>A	c.(766-768)CTG>ATG	p.L256M	LUM_uc001tbn.2_RNA	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	256	LRR 9.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	91501991	91501991	9461	12	G	T	T	35	35	LUM	T	2	2
BTG1	694	broad.mit.edu	37	12	92539232	92539232	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:92539232C>G	uc001tby.3	-	1	442	c.80G>C	c.(79-81)CGC>CCC	p.R27P	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	B-cell translocation protein 1	27					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity				0		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)						T	MYC	BCLL								---	---	---	---	capture		Missense_Mutation	SNP	92539232	92539232	1587	12	C	G	G	27	27	BTG1	G	3	3
ANKS1B	56899	broad.mit.edu	37	12	99145273	99145273	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99145273G>T	uc001tge.1	-	25	3949	c.3532C>A	c.(3532-3534)CTG>ATG	p.L1178M	ANKS1B_uc001tgf.1_Missense_Mutation_p.L694M|ANKS1B_uc001tgk.2_Missense_Mutation_p.L475M|ANKS1B_uc010svd.1_Missense_Mutation_p.L184M|ANKS1B_uc001tgd.1_Missense_Mutation_p.L344M|ANKS1B_uc009ztq.2_Missense_Mutation_p.L80M|ANKS1B_uc010sve.1_Missense_Mutation_p.L208M|ANKS1B_uc001tgh.3_Missense_Mutation_p.L184M|ANKS1B_uc001tgi.2_Missense_Mutation_p.L428M|ANKS1B_uc009ztr.2_Missense_Mutation_p.L368M|ANKS1B_uc001tgj.2_Missense_Mutation_p.L344M|ANKS1B_uc009ztp.2_Missense_Mutation_p.L209M|ANKS1B_uc010svf.1_Missense_Mutation_p.L208M|ANKS1B_uc001tgg.3_Missense_Mutation_p.L276M|ANKS1B_uc010svg.1_Missense_Mutation_p.L313M|ANKS1B_uc009zts.1_Missense_Mutation_p.L404M	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	1178	PID.					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	99145273	99145273	697	12	G	T	T	35	35	ANKS1B	T	2	2
ANO4	121601	broad.mit.edu	37	12	101490328	101490328	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101490328G>C	uc010svm.1	+	19	2325	c.1753G>C	c.(1753-1755)GAG>CAG	p.E585Q	ANO4_uc001thw.2_Missense_Mutation_p.E550Q|ANO4_uc001thx.2_Missense_Mutation_p.E585Q|ANO4_uc001thy.2_Missense_Mutation_p.E105Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	585	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6															HNSCC(74;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	101490328	101490328	707	12	G	C	C	33	33	ANO4	C	3	3
UBE3B	89910	broad.mit.edu	37	12	109971303	109971303	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109971303G>T	uc001top.2	+	27	3558	c.2955G>T	c.(2953-2955)CTG>CTT	p.L985L	UBE3B_uc001toq.2_Silent_p.L985L|UBE3B_uc001tos.2_Silent_p.L412L|UBE3B_uc001tot.2_Silent_p.L103L|UBE3B_uc010sxp.1_Silent_p.L103L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	985	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---	capture		Silent	SNP	109971303	109971303	17438	12	G	T	T	47	47	UBE3B	T	2	2
CIT	11113	broad.mit.edu	37	12	120139707	120139707	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120139707G>A	uc001txi.1	-	41	5288	c.5235C>T	c.(5233-5235)CTC>CTT	p.L1745L	CIT_uc001txh.1_Silent_p.L1264L|CIT_uc001txj.1_Silent_p.L1787L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1745	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---	capture		Silent	SNP	120139707	120139707	3573	12	G	A	A	45	45	CIT	A	2	2
MLEC	9761	broad.mit.edu	37	12	121132899	121132899	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121132899G>T	uc001tyy.1	+	4	744	c.593G>T	c.(592-594)GGG>GTG	p.G198V		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	198	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	121132899	121132899	10003	12	G	T	T	43	43	MLEC	T	2	2
HPD	3242	broad.mit.edu	37	12	122295682	122295682	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122295682C>A	uc001ubj.2	-	3	114	c.74G>T	c.(73-75)TGG>TTG	p.W25L	HPD_uc001ubk.2_5'UTR	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	25					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)													---	---	---	---	capture		Missense_Mutation	SNP	122295682	122295682	7624	12	C	A	A	21	21	HPD	A	2	2
SLC15A4	121260	broad.mit.edu	37	12	129283934	129283934	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129283934G>T	uc001uhu.2	-	7	1496	c.1443C>A	c.(1441-1443)CCC>CCA	p.P481P	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	481					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)														---	---	---	---	capture		Silent	SNP	129283934	129283934	14896	12	G	T	T	47	47	SLC15A4	T	2	2
GOLGA3	2802	broad.mit.edu	37	12	133384838	133384838	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133384838G>T	uc001ukz.1	-	5	1376	c.817C>A	c.(817-819)CTG>ATG	p.L273M	GOLGA3_uc001ula.1_Missense_Mutation_p.L273M|GOLGA3_uc001ulb.2_Missense_Mutation_p.L273M	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	273					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---	capture		Missense_Mutation	SNP	133384838	133384838	6823	12	G	T	T	35	35	GOLGA3	T	2	2
ZNF10	7556	broad.mit.edu	37	12	133733275	133733275	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133733275G>A	uc009zzb.2	+	5	1890	c.1443G>A	c.(1441-1443)AGG>AGA	p.R481R	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.R481R	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	481	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)														---	---	---	---	capture		Silent	SNP	133733275	133733275	18303	12	G	A	A	41	41	ZNF10	A	2	2
TPTE2	93492	broad.mit.edu	37	13	20039430	20039430	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20039430C>A	uc001umd.2	-	10	852	c.641G>T	c.(640-642)AGG>ATG	p.R214M	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R103M|TPTE2_uc001ume.2_Missense_Mutation_p.R137M|TPTE2_uc009zzm.2_Translation_Start_Site|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	214	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)														---	---	---	---	capture		Missense_Mutation	SNP	20039430	20039430	16975	13	C	A	A	24	24	TPTE2	A	2	2
SACS	26278	broad.mit.edu	37	13	23912516	23912516	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23912516G>T	uc001uon.2	-	10	6088	c.5499C>A	c.(5497-5499)TCC>TCA	p.S1833S	SACS_uc001uoo.2_Silent_p.S1686S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1833					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---	capture		Silent	SNP	23912516	23912516	14284	13	G	T	T	43	43	SACS	T	2	2
MTMR6	9107	broad.mit.edu	37	13	25835837	25835837	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25835837C>G	uc001uqf.3	-	6	1014	c.695G>C	c.(694-696)CGC>CCC	p.R232P	MTMR6_uc001uqe.1_Missense_Mutation_p.R232P	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	232	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)														---	---	---	---	capture		Missense_Mutation	SNP	25835837	25835837	10340	13	C	G	G	27	27	MTMR6	G	3	3
FLT1	2321	broad.mit.edu	37	13	28893635	28893635	+	Missense_Mutation	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28893635T>A	uc001usb.3	-	24	3496	c.3211A>T	c.(3211-3213)ATC>TTC	p.I1071F	FLT1_uc010aap.2_Missense_Mutation_p.I76F|FLT1_uc010aaq.2_Missense_Mutation_p.I196F|FLT1_uc001usa.3_Missense_Mutation_p.I289F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1071	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---	capture		Missense_Mutation	SNP	28893635	28893635	6183	13	T	A	A	49	49	FLT1	A	4	4
NHLRC3	387921	broad.mit.edu	37	13	39621263	39621263	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39621263C>T	uc001uxc.2	+	6	1087	c.765C>T	c.(763-765)TTC>TTT	p.F255F	NHLRC3_uc001uxd.2_Silent_p.F188F|NHLRC3_uc001uxe.2_Silent_p.F58F	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	255						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)														---	---	---	---	capture		Silent	SNP	39621263	39621263	10807	13	C	T	T	29	29	NHLRC3	T	2	2
LCP1	3936	broad.mit.edu	37	13	46730703	46730703	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46730703C>A	uc001vaz.3	-	5	487	c.361G>T	c.(361-363)GAA>TAA	p.E121*	LCP1_uc001vba.3_Nonsense_Mutation_p.E121*	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	121	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)				T	BCL6	NHL 								---	---	---	---	capture		Nonsense_Mutation	SNP	46730703	46730703	9015	13	C	A	A	30	30	LCP1	A	5	2
SUCLA2	8803	broad.mit.edu	37	13	48563071	48563071	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48563071C>G	uc001vbs.2	-	3	374	c.317G>C	c.(316-318)AGA>ACA	p.R106T	SUCLA2_uc010tgb.1_Missense_Mutation_p.R46T|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Missense_Mutation_p.R46T|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.R106T	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	106	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)													---	---	---	---	capture		Missense_Mutation	SNP	48563071	48563071	15883	13	C	G	G	32	32	SUCLA2	G	3	3
CAB39L	81617	broad.mit.edu	37	13	49885033	49885033	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49885033C>G	uc001vcw.2	-	9	1429	c.931G>C	c.(931-933)GAA>CAA	p.E311Q	CAB39L_uc001vcx.2_Missense_Mutation_p.E311Q|CAB39L_uc010adf.2_Missense_Mutation_p.E308Q	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	311					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)														---	---	---	---	capture		Missense_Mutation	SNP	49885033	49885033	2642	13	C	G	G	32	32	CAB39L	G	3	3
COL4A2	1284	broad.mit.edu	37	13	111099154	111099154	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111099154G>T	uc001vqx.2	+	18	1310	c.1021G>T	c.(1021-1023)GGA>TGA	p.G341*		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	341	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---	capture		Nonsense_Mutation	SNP	111099154	111099154	3828	13	G	T	T	39	39	COL4A2	T	5	1
SOX1	6656	broad.mit.edu	37	13	112722129	112722129	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:112722129C>T	uc001vsb.1	+	1	217	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	53	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)														---	---	---	---	capture		Missense_Mutation	SNP	112722129	112722129	15440	13	C	T	T	19	19	SOX1	T	1	1
OR11H12	440153	broad.mit.edu	37	14	19377713	19377713	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19377713C>A	uc010tkp.1	+	1	120	c.120C>A	c.(118-120)ATC>ATA	p.I40I		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	40	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Silent	SNP	19377713	19377713	11333	14	C	A	A	32	32	OR11H12	A	2	2
CHD8	57680	broad.mit.edu	37	14	21884067	21884067	+	Splice_Site	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21884067C>T	uc001was.1	-	6	974	c.880_splice	c.e6-1	p.K294_splice	CHD8_uc001war.1_Splice_Site_p.K190_splice	NM_020920	NP_065971			chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---	capture		Splice_Site	SNP	21884067	21884067	3465	14	C	T	T	32	32	CHD8	T	5	2
OR4E2	26686	broad.mit.edu	37	14	22133417	22133417	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22133417G>T	uc010tmd.1	+	1	121	c.121G>T	c.(121-123)GGG>TGG	p.G41W		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)														---	---	---	---	capture		Missense_Mutation	SNP	22133417	22133417	11467	14	G	T	T	35	35	OR4E2	T	2	2
MMP14	4323	broad.mit.edu	37	14	23313003	23313003	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23313003C>A	uc001whc.2	+	6	1169	c.935C>A	c.(934-936)CCC>CAC	p.P312H		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	312	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)														---	---	---	---	capture		Missense_Mutation	SNP	23313003	23313003	10043	14	C	A	A	22	22	MMP14	A	2	2
PRKD1	5587	broad.mit.edu	37	14	30105671	30105671	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30105671C>T	uc001wqh.2	-	7	1196	c.1015G>A	c.(1015-1017)GTG>ATG	p.V339M		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	339					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---	capture		Missense_Mutation	SNP	30105671	30105671	12961	14	C	T	T	17	17	PRKD1	T	2	2
FANCM	57697	broad.mit.edu	37	14	45658053	45658053	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45658053G>A	uc001wwd.3	+	20	4927	c.4828G>A	c.(4828-4830)GAA>AAA	p.E1610K	FANCM_uc010anf.2_Missense_Mutation_p.E1584K|FANCM_uc001wwe.3_Missense_Mutation_p.E1146K|FANCM_uc010ang.2_Missense_Mutation_p.E824K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1610					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	45658053	45658053	5907	14	G	A	A	45	45	FANCM	A	2	2
MDGA2	161357	broad.mit.edu	37	14	47389363	47389363	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47389363C>A	uc001wwj.3	-	10	2079	c.1883G>T	c.(1882-1884)GGA>GTA	p.G628V	MDGA2_uc001wwi.3_Missense_Mutation_p.G399V|MDGA2_uc010ani.2_Missense_Mutation_p.G188V	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	628					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	47389363	47389363	9796	14	C	A	A	30	30	MDGA2	A	2	2
ACTR10	55860	broad.mit.edu	37	14	58678108	58678108	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58678108G>T	uc001xdf.2	+	5	544	c.441G>T	c.(439-441)CTG>CTT	p.L147L	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	147						cytoplasm				central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	58678108	58678108	209	14	G	T	T	47	47	ACTR10	T	2	2
SYNE2	23224	broad.mit.edu	37	14	64491954	64491954	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64491954C>A	uc001xgm.2	+	41	6297	c.6067C>A	c.(6067-6069)CAG>AAG	p.Q2023K	SYNE2_uc001xgl.2_Missense_Mutation_p.Q2023K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2023	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---	capture		Missense_Mutation	SNP	64491954	64491954	15967	14	C	A	A	21	21	SYNE2	A	2	2
C14orf50	145376	broad.mit.edu	37	14	65056048	65056048	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65056048C>A	uc001xhl.1	+	12	1357	c.1261C>A	c.(1261-1263)CCT>ACT	p.P421T	C14orf50_uc001xhm.1_Missense_Mutation_p.P151T	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	421										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)														---	---	---	---	capture		Missense_Mutation	SNP	65056048	65056048	1827	14	C	A	A	22	22	C14orf50	A	2	2
SPTB	6710	broad.mit.edu	37	14	65235769	65235769	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65235769C>A	uc001xht.2	-	28	6059	c.6005G>T	c.(6004-6006)TGG>TTG	p.W2002L	SPTB_uc001xhr.2_Missense_Mutation_p.W2002L|SPTB_uc001xhs.2_Missense_Mutation_p.W2002L|SPTB_uc001xhu.2_Missense_Mutation_p.W2002L|SPTB_uc010aqi.2_Missense_Mutation_p.W663L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2002	Spectrin 17.				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		Missense_Mutation	SNP	65235769	65235769	15632	14	C	A	A	21	21	SPTB	A	2	2
C14orf45	80127	broad.mit.edu	37	14	74516689	74516689	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74516689G>T	uc010tup.1	+	8	1200	c.1077G>T	c.(1075-1077)GTG>GTT	p.V359V	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	359	Potential.										0				BRCA - Breast invasive adenocarcinoma(234;0.00351)														---	---	---	---	capture		Silent	SNP	74516689	74516689	1825	14	G	T	T	47	47	C14orf45	T	2	2
ATXN3	4287	broad.mit.edu	37	14	92549498	92549498	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92549498C>A	uc001yac.3	-	7	649	c.580G>T	c.(580-582)GAA>TAA	p.E194*	ATXN3_uc010aug.2_Nonsense_Mutation_p.E179*|ATXN3_uc001yad.3_Nonsense_Mutation_p.E139*|ATXN3_uc010auh.2_Nonsense_Mutation_p.E128*|ATXN3_uc001yae.3_Nonsense_Mutation_p.E96*|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	194					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		Nonsense_Mutation	SNP	92549498	92549498	1233	14	C	A	A	32	32	ATXN3	A	5	2
SERPINA5	5104	broad.mit.edu	37	14	95056384	95056384	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95056384G>T	uc001ydm.2	+	4	836	c.626G>T	c.(625-627)TGG>TTG	p.W209L	SERPINA5_uc010ave.2_Missense_Mutation_p.W209L|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	209					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)													---	---	---	---	capture		Missense_Mutation	SNP	95056384	95056384	14580	14	G	T	T	47	47	SERPINA5	T	2	2
C14orf49	161176	broad.mit.edu	37	14	95932334	95932334	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95932334G>T	uc001yei.3	-	3	576	c.561C>A	c.(559-561)CCC>CCA	p.P187P	C14orf49_uc010avi.2_Silent_p.P187P|C14orf49_uc001yej.1_Silent_p.P187P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	187	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)														---	---	---	---	capture		Silent	SNP	95932334	95932334	1826	14	G	T	T	47	47	C14orf49	T	2	2
BDKRB1	623	broad.mit.edu	37	14	96730938	96730938	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96730938C>A	uc001yfh.2	+	3	1127	c.919C>A	c.(919-921)CTG>ATG	p.L307M	BDKRB1_uc010avn.2_Missense_Mutation_p.L241M	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	307	Helical; Name=7; (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	96730938	96730938	1414	14	C	A	A	24	24	BDKRB1	A	2	2
WDR25	79446	broad.mit.edu	37	14	100847918	100847918	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100847918G>T	uc010avx.2	+	2	750	c.657G>T	c.(655-657)GAG>GAT	p.E219D	WDR25_uc001yhm.2_Missense_Mutation_p.E211D|WDR25_uc001yhn.2_Missense_Mutation_p.E219D|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_5'Flank	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	219											0		Melanoma(154;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	100847918	100847918	17855	14	G	T	T	36	36	WDR25	T	2	2
PPP2R5C	5527	broad.mit.edu	37	14	102276371	102276371	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102276371G>A	uc001yko.2	+	1	232	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	PPP2R5C_uc001ykj.3_Intron|PPP2R5C_uc010txr.1_Intron|PPP2R5C_uc001ykk.2_Intron|PPP2R5C_uc010txt.1_Missense_Mutation_p.R21Q|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R31Q|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R31Q|PPP2R5C_uc010txs.1_Missense_Mutation_p.R21Q	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	31					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	102276371	102276371	12830	14	G	A	A	37	37	PPP2R5C	A	1	1
DYNC1H1	1778	broad.mit.edu	37	14	102467534	102467534	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102467534G>T	uc001yks.2	+	20	4402	c.4238G>T	c.(4237-4239)TGG>TTG	p.W1413L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1413	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	102467534	102467534	5027	14	G	T	T	47	47	DYNC1H1	T	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102493548	102493548	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102493548G>T	uc001yks.2	+	45	8973	c.8809G>T	c.(8809-8811)GGT>TGT	p.G2937C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2937	AAA 4 (By similarity).|ATP (Potential).				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	102493548	102493548	5027	14	G	T	T	47	47	DYNC1H1	T	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102515002	102515002	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102515002G>T	uc001yks.2	+	74	13532	c.13368G>T	c.(13366-13368)GTG>GTT	p.V4456V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4456					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		Silent	SNP	102515002	102515002	5027	14	G	T	T	45	45	DYNC1H1	T	2	2
ZNF839	55778	broad.mit.edu	37	14	102800977	102800977	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102800977G>A	uc001ylo.2	+	4	1505	c.1155G>A	c.(1153-1155)CTG>CTA	p.L385L	ZNF839_uc010awk.1_Silent_p.L501L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.L385L|ZNF839_uc001ylr.2_Silent_p.L310L|ZNF839_uc001yls.2_5'UTR|ZNF839_uc001ylt.2_5'Flank	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	385						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	102800977	102800977	18788	14	G	A	A	45	45	ZNF839	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105405932	105405932	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105405932C>A	uc010axc.1	-	7	15976	c.15856G>T	c.(15856-15858)GGG>TGG	p.G5286W	AHNAK2_uc001ypx.2_Missense_Mutation_p.G5186W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5286						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	105405932	105405932	418	14	C	A	A	21	21	AHNAK2	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105407388	105407388	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105407388G>T	uc010axc.1	-	7	14520	c.14400C>A	c.(14398-14400)CCC>CCA	p.P4800P	AHNAK2_uc001ypx.2_Silent_p.P4700P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4800						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		Silent	SNP	105407388	105407388	418	14	G	T	T	47	47	AHNAK2	T	2	2
AHNAK2	113146	broad.mit.edu	37	14	105410132	105410132	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105410132G>T	uc010axc.1	-	7	11776	c.11656C>A	c.(11656-11658)CTG>ATG	p.L3886M	AHNAK2_uc001ypx.2_Missense_Mutation_p.L3786M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3886						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	105410132	105410132	418	14	G	T	T	35	35	AHNAK2	T	2	2
GPR132	29933	broad.mit.edu	37	14	105517538	105517538	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105517538C>T	uc001yqd.2	-	4	1835	c.936G>A	c.(934-936)ACG>ACA	p.T312T	GPR132_uc001yqc.2_Silent_p.T124T|GPR132_uc001yqe.2_Silent_p.T303T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	312	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)														---	---	---	---	capture		Silent	SNP	105517538	105517538	6916	14	C	T	T	23	23	GPR132	T	1	1
MTA1	9112	broad.mit.edu	37	14	105927231	105927231	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105927231C>A	uc001yqx.2	+	10	1070	c.883C>A	c.(883-885)CTT>ATT	p.L295I	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.L209I|MTA1_uc001yra.1_Missense_Mutation_p.L209I|MTA1_uc001yrb.2_Missense_Mutation_p.L56I	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	295	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	105927231	105927231	10301	14	C	A	A	24	24	MTA1	A	2	2
C15orf2	23742	broad.mit.edu	37	15	24923588	24923588	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:24923588G>A	uc001ywo.2	+	1	3048	c.2574G>A	c.(2572-2574)GGG>GGA	p.G858G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	858					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)														---	---	---	---	capture		Silent	SNP	24923588	24923588	1834	15	G	A	A	41	41	C15orf2	A	2	2
TJP1	7082	broad.mit.edu	37	15	30025310	30025310	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30025310G>T	uc001zcr.2	-	13	2199	c.1724C>A	c.(1723-1725)CCT>CAT	p.P575H	TJP1_uc010azl.2_Missense_Mutation_p.P563H|TJP1_uc001zcq.2_Missense_Mutation_p.P579H|TJP1_uc001zcs.2_Missense_Mutation_p.P575H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	575	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	30025310	30025310	16458	15	G	T	T	35	35	TJP1	T	2	2
RYR3	6263	broad.mit.edu	37	15	33833011	33833011	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33833011G>T	uc001zhi.2	+	7	636	c.566G>T	c.(565-567)GGT>GTT	p.G189V	RYR3_uc010bar.2_Missense_Mutation_p.G189V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	189	MIR 2.|Cytoplasmic (By similarity).				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		Missense_Mutation	SNP	33833011	33833011	14250	15	G	T	T	44	44	RYR3	T	2	2
PGBD4	161779	broad.mit.edu	37	15	34396159	34396159	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34396159C>A	uc001zho.2	+	1	1886	c.1427C>A	c.(1426-1428)CCT>CAT	p.P476H	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	476											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)														---	---	---	---	capture		Missense_Mutation	SNP	34396159	34396159	12206	15	C	A	A	24	24	PGBD4	A	2	2
SLC12A1	6557	broad.mit.edu	37	15	48539204	48539204	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48539204A>T	uc001zwn.3	+	12	1767	c.1551A>T	c.(1549-1551)AAA>AAT	p.K517N	SLC12A1_uc010uew.1_Missense_Mutation_p.K323N|SLC12A1_uc010bem.2_Missense_Mutation_p.K517N|SLC12A1_uc001zwq.3_Missense_Mutation_p.K288N|SLC12A1_uc001zwr.3_Missense_Mutation_p.K244N	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	517	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)													---	---	---	---	capture		Missense_Mutation	SNP	48539204	48539204	14877	15	A	T	T	3	3	SLC12A1	T	4	4
FBN1	2200	broad.mit.edu	37	15	48782117	48782117	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48782117C>A	uc001zwx.1	-	25	3341	c.3013G>T	c.(3013-3015)GAG>TAG	p.E1005*		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1005	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---	capture		Nonsense_Mutation	SNP	48782117	48782117	5938	15	C	A	A	31	31	FBN1	A	5	1
C15orf33	196951	broad.mit.edu	37	15	49867260	49867260	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49867260G>A	uc001zxl.2	-	8	887	c.593C>T	c.(592-594)TCC>TTC	p.S198F	C15orf33_uc001zxm.2_Missense_Mutation_p.S198F	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	198										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)														---	---	---	---	capture		Missense_Mutation	SNP	49867260	49867260	1841	15	G	A	A	41	41	C15orf33	A	2	2
HERC1	8925	broad.mit.edu	37	15	63932475	63932475	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63932475C>A	uc002amp.2	-	61	11925	c.11777G>T	c.(11776-11778)TGG>TTG	p.W3926L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3926					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	63932475	63932475	7340	15	C	A	A	21	21	HERC1	A	2	2
SNX1	6642	broad.mit.edu	37	15	64418374	64418374	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64418374C>G	uc002amv.2	+	6	643	c.607C>G	c.(607-609)CAG>GAG	p.Q203E	SNX1_uc010bgv.2_5'UTR|SNX1_uc010uio.1_Missense_Mutation_p.Q203E|SNX1_uc002amw.2_Missense_Mutation_p.Q203E|SNX1_uc002amx.2_Missense_Mutation_p.Q138E|SNX1_uc002amy.2_Missense_Mutation_p.Q132E|SNX1_uc010bgw.2_Missense_Mutation_p.Q105E	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	203	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	64418374	64418374	15380	15	C	G	G	29	29	SNX1	G	3	3
ZNF609	23060	broad.mit.edu	37	15	64967967	64967967	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64967967C>A	uc002ann.2	+	4	2914	c.2914C>A	c.(2914-2916)CTG>ATG	p.L972M		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	972						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	64967967	64967967	18630	15	C	A	A	24	24	ZNF609	A	2	2
GRAMD2	196996	broad.mit.edu	37	15	72457711	72457711	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72457711C>A	uc002atq.2	-	8	608	c.584G>T	c.(583-585)GGG>GTG	p.G195V	GRAMD2_uc010bis.2_Missense_Mutation_p.G195V|GRAMD2_uc010ukh.1_5'Flank	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	195						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	72457711	72457711	7026	15	C	A	A	22	22	GRAMD2	A	2	2
ISL2	64843	broad.mit.edu	37	15	76629258	76629258	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76629258G>T	uc002bbw.1	+	1	112	c.34G>T	c.(34-36)GGT>TGT	p.G12C		NM_145805	NP_665804	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	76629258	76629258	8161	15	G	T	T	43	43	ISL2	T	2	2
IDH3A	3419	broad.mit.edu	37	15	78454050	78454050	+	Missense_Mutation	SNP	T	G	G	rs61752770	byFrequency;by1000genomes	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78454050T>G	uc002bdd.2	+	5	444	c.417T>G	c.(415-417)GAT>GAG	p.D139E	IDH3A_uc010umt.1_Missense_Mutation_p.D104E|IDH3A_uc010umu.1_Missense_Mutation_p.D30E|IDH3A_uc002bde.2_Missense_Mutation_p.D89E|IDH3A_uc010umv.1_Missense_Mutation_p.D89E|IDH3A_uc002bdf.2_5'UTR|IDH3A_uc002bdg.2_Missense_Mutation_p.D52E	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	78454050	78454050	7796	15	T	G	G	51	51	IDH3A	G	4	4
TMC3	342125	broad.mit.edu	37	15	81654635	81654635	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81654635C>T	uc002bgo.1	-	4	320	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.R107Q	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	107	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	81654635	81654635	16516	15	C	T	T	23	23	TMC3	T	1	1
AP3B2	8120	broad.mit.edu	37	15	83334295	83334295	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83334295G>T	uc010uoh.1	-	16	2062	c.1885C>A	c.(1885-1887)CAC>AAC	p.H629N	AP3B2_uc010uoi.1_Missense_Mutation_p.H629N|AP3B2_uc010uoj.1_Missense_Mutation_p.H597N|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.H265N|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	629					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	83334295	83334295	755	15	G	T	T	47	47	AP3B2	T	2	2
ALPK3	57538	broad.mit.edu	37	15	85405880	85405880	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85405880G>A	uc002ble.2	+	10	4917	c.4750G>A	c.(4750-4752)GAG>AAG	p.E1584K	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1584					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Missense_Mutation	SNP	85405880	85405880	549	15	G	A	A	45	45	ALPK3	A	2	2
FANCI	55215	broad.mit.edu	37	15	89834913	89834913	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89834913C>A	uc010bnp.1	+	20	2050	c.1960C>A	c.(1960-1962)CAA>AAA	p.Q654K	FANCI_uc002bnm.1_Missense_Mutation_p.Q654K|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.Q475K|FANCI_uc002bnq.1_Missense_Mutation_p.Q67K	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	654					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	89834913	89834913	5905	15	C	A	A	21	21	FANCI	A	2	2
WDR93	56964	broad.mit.edu	37	15	90260146	90260146	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90260146C>T	uc002boj.2	+	7	862	c.761C>T	c.(760-762)TCC>TTC	p.S254F	WDR93_uc010bnr.2_Missense_Mutation_p.S254F	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	254					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---	capture		Missense_Mutation	SNP	90260146	90260146	17914	15	C	T	T	30	30	WDR93	T	2	2
IGF1R	3480	broad.mit.edu	37	15	99440131	99440131	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99440131G>T	uc002bul.2	+	4	1149	c.1099G>T	c.(1099-1101)GGG>TGG	p.G367W	IGF1R_uc010urq.1_Missense_Mutation_p.G367W|IGF1R_uc010bon.2_Missense_Mutation_p.G367W	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	367					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---	capture		Missense_Mutation	SNP	99440131	99440131	7872	15	G	T	T	43	43	IGF1R	T	2	2
SNRNP25	79622	broad.mit.edu	37	16	105483	105483	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:105483C>A	uc002cfj.3	+	2	255	c.94C>A	c.(94-96)CAA>AAA	p.Q32K	POLR3K_uc002cfi.1_5'Flank|SNRNP25_uc002cfk.3_5'Flank	NM_024571	NP_078847	Q9BV90	SNR25_HUMAN	U11/U12 snRNP 25K protein	32					mRNA processing	U12-type spliceosomal complex					0																		---	---	---	---	capture		Missense_Mutation	SNP	105483	105483	15353	16	C	A	A	21	21	SNRNP25	A	2	2
RHOT2	89941	broad.mit.edu	37	16	718534	718534	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:718534C>A	uc002cip.2	+	3	210	c.143C>A	c.(142-144)CCG>CAG	p.P48Q	RHOT2_uc010uum.1_Missense_Mutation_p.P48Q|RHOT2_uc002ciq.2_5'UTR|RHOT2_uc010bqy.2_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	48	Miro 1.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)																---	---	---	---	capture		Missense_Mutation	SNP	718534	718534	13819	16	C	A	A	23	23	RHOT2	A	1	1
CHTF18	63922	broad.mit.edu	37	16	847697	847697	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:847697G>C	uc002cke.3	+	21	2800	c.2737G>C	c.(2737-2739)GAG>CAG	p.E913Q	CHTF18_uc002ckf.3_Missense_Mutation_p.E941Q|CHTF18_uc010brf.2_Missense_Mutation_p.E495Q|CHTF18_uc002ckg.3_Missense_Mutation_p.E431Q	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	913					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)																---	---	---	---	capture		Missense_Mutation	SNP	847697	847697	3548	16	G	C	C	45	45	CHTF18	C	3	3
LMF1	64788	broad.mit.edu	37	16	1004602	1004602	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1004602G>T	uc002ckj.2	-	2	262	c.258C>A	c.(256-258)CCC>CCA	p.P86P	LMF1_uc010brh.2_Translation_Start_Site|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Translation_Start_Site|LMF1_uc010uuu.1_RNA|LMF1_uc010uuv.1_RNA	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	86	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)																---	---	---	---	capture		Silent	SNP	1004602	1004602	9174	16	G	T	T	35	35	LMF1	T	2	2
SRRM2	23524	broad.mit.edu	37	16	2815495	2815495	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2815495G>T	uc002crk.2	+	11	5515	c.4966G>T	c.(4966-4968)GAG>TAG	p.E1656*	SRRM2_uc002crj.1_Nonsense_Mutation_p.E1560*|SRRM2_uc002crl.1_Nonsense_Mutation_p.E1656*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.E1560*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1656	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		Nonsense_Mutation	SNP	2815495	2815495	15683	16	G	T	T	37	37	SRRM2	T	5	1
ZNF263	10127	broad.mit.edu	37	16	3339825	3339825	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3339825G>T	uc002cuq.2	+	6	1651	c.1319G>T	c.(1318-1320)GGG>GTG	p.G440V	ZNF263_uc010uww.1_Missense_Mutation_p.G88V|ZNF263_uc002cur.2_Missense_Mutation_p.G88V	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	440	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	3339825	3339825	18395	16	G	T	T	43	43	ZNF263	T	2	2
BTBD12	84464	broad.mit.edu	37	16	3633448	3633448	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3633448G>T	uc002cvp.2	-	14	5430	c.4803C>A	c.(4801-4803)TAC>TAA	p.Y1601*		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1601	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---	capture		Nonsense_Mutation	SNP	3633448	3633448	1572	16	G	T	T	48	48	BTBD12	T	5	2
C16orf68	79091	broad.mit.edu	37	16	8722882	8722882	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8722882G>T	uc002cyz.2	+	3	705	c.429G>T	c.(427-429)AAG>AAT	p.K143N	C16orf68_uc002cza.2_Intron	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	143							methyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	8722882	8722882	1880	16	G	T	T	35	35	C16orf68	T	2	2
GRIN2A	2903	broad.mit.edu	37	16	9857084	9857084	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:9857084G>T	uc002czo.3	-	13	4865	c.4317C>A	c.(4315-4317)TAC>TAA	p.Y1439*	GRIN2A_uc010uym.1_Nonsense_Mutation_p.Y1439*|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1439	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		Nonsense_Mutation	SNP	9857084	9857084	7058	16	G	T	T	36	36	GRIN2A	T	5	2
XYLT1	64131	broad.mit.edu	37	16	17292262	17292262	+	Missense_Mutation	SNP	A	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:17292262A>C	uc002dfa.2	-	5	1181	c.1096T>G	c.(1096-1098)TAC>GAC	p.Y366D		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	366	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	17292262	17292262	18046	16	A	C	C	13	13	XYLT1	C	4	4
TMC5	79838	broad.mit.edu	37	16	19475265	19475265	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19475265C>G	uc002dgc.3	+	8	2153	c.1404C>G	c.(1402-1404)TTC>TTG	p.F468L	TMC5_uc010vaq.1_Missense_Mutation_p.F468L|TMC5_uc002dgb.3_Missense_Mutation_p.F468L|TMC5_uc010var.1_Missense_Mutation_p.F468L|TMC5_uc002dgd.1_Missense_Mutation_p.F222L|TMC5_uc002dge.3_Missense_Mutation_p.F222L|TMC5_uc002dgf.3_Missense_Mutation_p.F151L|TMC5_uc002dgg.3_Missense_Mutation_p.F109L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	468	Helical; (Potential).					integral to membrane				skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19475265	19475265	16518	16	C	G	G	29	29	TMC5	G	3	3
ACSM2B	348158	broad.mit.edu	37	16	20548587	20548587	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20548587G>A	uc002dhj.3	-	15	1937	c.1727C>T	c.(1726-1728)GCG>GTG	p.A576V	ACSM2B_uc002dhk.3_Missense_Mutation_p.A576V	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	576					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	20548587	20548587	185	16	G	A	A	38	38	ACSM2B	A	1	1
DNAH3	55567	broad.mit.edu	37	16	21151983	21151983	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21151983C>A	uc010vbe.1	-	5	570	c.570G>T	c.(568-570)GAG>GAT	p.E190D	DNAH3_uc002die.2_Missense_Mutation_p.E161D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	190	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---	capture		Missense_Mutation	SNP	21151983	21151983	4786	16	C	A	A	24	24	DNAH3	A	2	2
SCNN1G	6340	broad.mit.edu	37	16	23200903	23200903	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23200903G>T	uc002dlm.1	+	3	668	c.529G>T	c.(529-531)GGG>TGG	p.G177W		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	177	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---	capture		Missense_Mutation	SNP	23200903	23200903	14412	16	G	T	T	35	35	SCNN1G	T	2	2
GGA2	23062	broad.mit.edu	37	16	23498080	23498080	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23498080G>T	uc002dlq.2	-	7	687	c.611C>A	c.(610-612)CCC>CAC	p.P204H	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	204	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)														---	---	---	---	capture		Missense_Mutation	SNP	23498080	23498080	6621	16	G	T	T	43	43	GGA2	T	2	2
DCTN5	84516	broad.mit.edu	37	16	23677023	23677023	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23677023C>A	uc002dly.1	+	5	482	c.425C>A	c.(424-426)CCA>CAA	p.P142Q		NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	dynactin 5	142						centrosome	transferase activity			upper_aerodigestive_tract(1)	1				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---	capture		Missense_Mutation	SNP	23677023	23677023	4481	16	C	A	A	21	21	DCTN5	A	2	2
PLK1	5347	broad.mit.edu	37	16	23701356	23701356	+	Missense_Mutation	SNP	C	T	T	rs34001032	byFrequency	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23701356C>T	uc002dlz.1	+	10	1837	c.1784C>T	c.(1783-1785)TCG>TTG	p.S595L		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---	capture		Missense_Mutation	SNP	23701356	23701356	12520	16	C	T	T	31	31	PLK1	T	1	1
CD19	930	broad.mit.edu	37	16	28943342	28943342	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28943342C>A	uc002drs.2	+	1	83	c.21C>A	c.(19-21)CTC>CTA	p.L7L	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L7L	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	7					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	28943342	28943342	3100	16	C	A	A	32	32	CD19	A	2	2
SRCAP	10847	broad.mit.edu	37	16	30724051	30724051	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30724051G>T	uc002dze.1	+	14	2430	c.2045G>T	c.(2044-2046)TGG>TTG	p.W682L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.W539L|SRCAP_uc010bzz.1_Missense_Mutation_p.W252L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	682	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	30724051	30724051	15649	16	G	T	T	47	47	SRCAP	T	2	2
ITGAD	3681	broad.mit.edu	37	16	31425859	31425859	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31425859C>A	uc002ebv.1	+	17	2133	c.2084C>A	c.(2083-2085)CCC>CAC	p.P695H	ITGAD_uc010cap.1_Missense_Mutation_p.P696H	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	695	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	31425859	31425859	8188	16	C	A	A	22	22	ITGAD	A	2	2
ABCC11	85320	broad.mit.edu	37	16	48212568	48212568	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48212568C>A	uc002eff.1	-	23	3638	c.3288G>T	c.(3286-3288)CGG>CGT	p.R1096R	ABCC11_uc002efg.1_Silent_p.R1096R|ABCC11_uc002efh.1_Silent_p.R1096R|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1096	Cytoplasmic (Potential).|ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												Cerumen_Type				---	---	---	---	capture		Silent	SNP	48212568	48212568	52	16	C	A	A	30	30	ABCC11	A	2	2
NOD2	64127	broad.mit.edu	37	16	50759418	50759418	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50759418C>G	uc002egm.1	+	10	3006	c.2901C>G	c.(2899-2901)CTC>CTG	p.L967L	NOD2_uc010vgq.1_Silent_p.L12L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	967	LRR 7.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)																---	---	---	---	capture		Silent	SNP	50759418	50759418	10920	16	C	G	G	30	30	NOD2	G	3	3
SLC6A2	6530	broad.mit.edu	37	16	55719166	55719166	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55719166C>G	uc002eif.2	+	5	867	c.756C>G	c.(754-756)CTC>CTG	p.L252L	SLC6A2_uc010ccd.2_Silent_p.L252L|SLC6A2_uc002eig.2_Silent_p.L252L|SLC6A2_uc002eih.2_Silent_p.L252L|SLC6A2_uc002eii.2_Silent_p.L147L|SLC6A2_uc002eij.2_Silent_p.L11L	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	252	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)													---	---	---	---	capture		Silent	SNP	55719166	55719166	15180	16	C	G	G	32	32	SLC6A2	G	3	3
SLC6A2	6530	broad.mit.edu	37	16	55731808	55731808	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55731808G>T	uc002eif.2	+	10	1372	c.1261_splice	c.e10-1	p.M421_splice	SLC6A2_uc010ccd.2_Splice_Site_p.M421_splice|SLC6A2_uc002eig.2_Splice_Site_p.M421_splice|SLC6A2_uc002eih.2_Splice_Site_p.M421_splice|SLC6A2_uc002eii.2_Splice_Site_p.M316_splice|SLC6A2_uc002eij.2_Splice_Site_p.M135_splice	NM_001043	NP_001034			solute carrier family 6 member 2						synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)													---	---	---	---	capture		Splice_Site	SNP	55731808	55731808	15180	16	G	T	T	33	33	SLC6A2	T	5	2
CCL17	6361	broad.mit.edu	37	16	57449051	57449051	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57449051C>A	uc002elj.1	+	3	258	c.129C>A	c.(127-129)CCC>CCA	p.P43P	CCL17_uc010ccz.1_Silent_p.P72P	NM_002987	NP_002978	Q92583	CCL17_HUMAN	small inducible cytokine A17 precursor	43					cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	57449051	57449051	3013	16	C	A	A	22	22	CCL17	A	2	2
CDH8	1006	broad.mit.edu	37	16	61858997	61858997	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:61858997G>A	uc002eog.1	-	5	1006	c.754C>T	c.(754-756)CAC>TAC	p.H252Y	CDH8_uc002eoh.2_Missense_Mutation_p.H21Y	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	252	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)														---	---	---	---	capture		Missense_Mutation	SNP	61858997	61858997	3245	16	G	A	A	48	48	CDH8	A	2	2
KCTD19	146212	broad.mit.edu	37	16	67327483	67327483	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67327483G>T	uc002esu.2	-	12	2233	c.2182C>A	c.(2182-2184)CTG>ATG	p.L728M	KCTD19_uc002est.2_Missense_Mutation_p.L500M|KCTD19_uc010vjj.1_Missense_Mutation_p.L471M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	728						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)														---	---	---	---	capture		Missense_Mutation	SNP	67327483	67327483	8412	16	G	T	T	35	35	KCTD19	T	2	2
TMCO7	79613	broad.mit.edu	37	16	68893908	68893908	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68893908C>A	uc002ewi.3	+	2	228	c.216C>A	c.(214-216)CTC>CTA	p.L72L	TMCO7_uc002ewh.2_Silent_p.L72L	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	72						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---	capture		Silent	SNP	68893908	68893908	16531	16	C	A	A	30	30	TMCO7	A	2	2
AARS	16	broad.mit.edu	37	16	70293016	70293016	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70293016C>A	uc002eyn.1	-	14	1969	c.1859G>T	c.(1858-1860)GGG>GTG	p.G620V	AARS_uc010vlu.1_Missense_Mutation_p.G450V	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	620					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)													---	---	---	---	capture		Missense_Mutation	SNP	70293016	70293016	20	16	C	A	A	22	22	AARS	A	2	2
ZNF23	7571	broad.mit.edu	37	16	71483756	71483756	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71483756C>A	uc002faf.2	-	6	986	c.172G>T	c.(172-174)GAA>TAA	p.E58*	ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_5'UTR|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Nonsense_Mutation_p.E58*|ZNF23_uc002fai.2_Nonsense_Mutation_p.E97*	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)														---	---	---	---	capture		Nonsense_Mutation	SNP	71483756	71483756	18374	16	C	A	A	30	30	ZNF23	A	5	2
ZFHX3	463	broad.mit.edu	37	16	72845851	72845851	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72845851G>C	uc002fck.2	-	6	4289	c.3616C>G	c.(3616-3618)CTC>GTC	p.L1206V	ZFHX3_uc002fcl.2_Missense_Mutation_p.L292V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1206					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---	capture		Missense_Mutation	SNP	72845851	72845851	18222	16	G	C	C	35	35	ZFHX3	C	3	3
GLG1	2734	broad.mit.edu	37	16	74514199	74514199	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74514199C>A	uc002fcy.3	-	11	1817	c.1767G>T	c.(1765-1767)CAG>CAT	p.Q589H	GLG1_uc002fcx.2_Missense_Mutation_p.Q589H|GLG1_uc002fcw.3_Missense_Mutation_p.Q578H|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	589	Extracellular (Potential).|Cys-rich GLG1 8.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	74514199	74514199	6704	16	C	A	A	24	24	GLG1	A	2	2
CMIP	80790	broad.mit.edu	37	16	81641237	81641237	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81641237G>T	uc002fgp.2	+	2	438	c.366G>T	c.(364-366)TGG>TGT	p.W122C	CMIP_uc002fgq.1_Missense_Mutation_p.W28C|CMIP_uc010vnq.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	88	PH.					cytoplasm|nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	81641237	81641237	3716	16	G	T	T	43	43	CMIP	T	2	2
KIAA0513	9764	broad.mit.edu	37	16	85100954	85100954	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85100954C>A	uc002fiu.2	+	2	497	c.277C>A	c.(277-279)CTG>ATG	p.L93M	KIAA0513_uc002fis.3_Missense_Mutation_p.L93M|KIAA0513_uc010voj.1_Missense_Mutation_p.L93M|KIAA0513_uc002fit.2_Missense_Mutation_p.L93M	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	93						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)														---	---	---	---	capture		Missense_Mutation	SNP	85100954	85100954	8488	16	C	A	A	24	24	KIAA0513	A	2	2
SMYD4	114826	broad.mit.edu	37	17	1703966	1703966	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1703966G>T	uc002ftm.3	-	5	890	c.722C>A	c.(721-723)CCT>CAT	p.P241H	SMYD4_uc002ftn.1_Missense_Mutation_p.P96H	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	241							zinc ion binding			skin(3)|kidney(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	1703966	1703966	15324	17	G	T	T	35	35	SMYD4	T	2	2
SRR	63826	broad.mit.edu	37	17	2224659	2224659	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2224659C>A	uc002fue.1	+	5	527	c.459C>A	c.(457-459)CCC>CCA	p.P153P	SRR_uc002fui.1_Silent_p.P4P	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	153					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Silent	SNP	2224659	2224659	15680	17	C	A	A	21	21	SRR	A	2	2
GABARAP	11337	broad.mit.edu	37	17	7144663	7144663	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7144663G>T	uc002gfb.2	-	3	390	c.286C>A	c.(286-288)CAG>AAG	p.Q96K	PHF23_uc002gfa.2_5'Flank|PHF23_uc010vtt.1_5'Flank|PHF23_uc010cma.2_5'Flank	NM_007278	NP_009209	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	96	Interaction with GPHN (By similarity).				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7144663	7144663	6403	17	G	T	T	47	47	GABARAP	T	2	2
C17orf81	23587	broad.mit.edu	37	17	7156238	7156238	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7156238G>T	uc002gfg.1	+	4	264	c.157G>T	c.(157-159)GGG>TGG	p.G53W	DULLARD_uc002gfd.2_5'Flank|DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|DULLARD_uc002gfc.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.G53W|C17orf81_uc010cmb.2_Missense_Mutation_p.G53W|C17orf81_uc002gfh.1_Missense_Mutation_p.G53W|C17orf81_uc002gfi.1_Missense_Mutation_p.G53W|C17orf81_uc002gfk.1_Missense_Mutation_p.G53W|C17orf81_uc002gfl.1_Missense_Mutation_p.G53W	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7156238	7156238	1944	17	G	T	T	47	47	C17orf81	T	2	2
TP53	7157	broad.mit.edu	37	17	7579494	7579494	+	Nonsense_Mutation	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7579494T>A	uc002gim.2	-	4	387	c.193A>T	c.(193-195)AGA>TGA	p.R65*	TP53_uc002gig.1_Nonsense_Mutation_p.R65*|TP53_uc002gih.2_Nonsense_Mutation_p.R65*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.R65*|TP53_uc010cni.1_Nonsense_Mutation_p.R65*|TP53_uc002gij.2_Nonsense_Mutation_p.R65*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.R26*|TP53_uc010cnk.1_Nonsense_Mutation_p.R80*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; 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.R65*(8)|p.0?(7)|p.G59fs*23(3)|p.264_265insSSGNL(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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		Nonsense_Mutation	SNP	7579494	7579494	16923	17	T	A	A	55	55	TP53	A	5	4
PIK3R6	146850	broad.mit.edu	37	17	8738701	8738701	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8738701C>T	uc002glq.1	-	8	774	c.534G>A	c.(532-534)GCG>GCA	p.A178A	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	178					platelet activation	cytosol					0																		---	---	---	---	capture		Silent	SNP	8738701	8738701	12347	17	C	T	T	23	23	PIK3R6	T	1	1
MYH3	4621	broad.mit.edu	37	17	10542913	10542913	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10542913G>T	uc002gmq.1	-	22	2966	c.2889C>A	c.(2887-2889)GCC>GCA	p.A963A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	963	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---	capture		Silent	SNP	10542913	10542913	10431	17	G	T	T	47	47	MYH3	T	2	2
ELAC2	60528	broad.mit.edu	37	17	12897091	12897091	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12897091C>T	uc002gnz.3	-	23	2261	c.2166G>A	c.(2164-2166)CTG>CTA	p.L722L	ELAC2_uc002gnu.3_Silent_p.L119L|ELAC2_uc002gnv.3_Silent_p.L350L|ELAC2_uc002gnw.3_Silent_p.L378L|ELAC2_uc002gnx.3_Silent_p.L482L|ELAC2_uc010vvo.1_Silent_p.L520L|ELAC2_uc010vvp.1_Silent_p.L703L|ELAC2_uc010vvq.1_Silent_p.L721L|ELAC2_uc010vvr.1_Silent_p.L682L	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	722					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0														Hereditary_Prostate_Cancer				---	---	---	---	capture		Silent	SNP	12897091	12897091	5238	17	C	T	T	29	29	ELAC2	T	2	2
FLCN	201163	broad.mit.edu	37	17	17127237	17127237	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17127237T>C	uc002gra.3	-	6	1121	c.617A>G	c.(616-618)AAG>AGG	p.K206R	PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Missense_Mutation_p.K206R	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	206					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3														Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	17127237	17127237	6159	17	T	C	C	56	56	FLCN	C	4	4
SHMT1	6470	broad.mit.edu	37	17	18250933	18250933	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18250933C>A	uc002gta.2	-	5	586	c.396G>T	c.(394-396)GTG>GTT	p.V132V	SHMT1_uc002gtb.2_Silent_p.V132V|SHMT1_uc010cqb.2_Silent_p.V132V|SHMT1_uc010vxt.1_5'UTR|SHMT1_uc002gtd.1_Silent_p.V132V|SHMT1_uc010vxu.1_Silent_p.V132V	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	132					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---	capture		Silent	SNP	18250933	18250933	14780	17	C	A	A	21	21	SHMT1	A	2	2
NEK8	284086	broad.mit.edu	37	17	27064326	27064326	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27064326C>G	uc002hcp.2	+	5	621	c.621C>G	c.(619-621)AAC>AAG	p.N207K		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	207	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)																	---	---	---	---	capture		Missense_Mutation	SNP	27064326	27064326	10729	17	C	G	G	20	20	NEK8	G	3	3
AMAC1	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	G	G	rs74740601	by1000genomes	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33520358A>G	uc002hjd.2	-	1	1055	c.969T>C	c.(967-969)ATT>ATC	p.I323I		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	323	DUF6 2.|Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)														---	---	---	---	capture		Silent	SNP	33520358	33520358	562	17	A	G	G	13	13	AMAC1	G	4	4
SRCIN1	80725	broad.mit.edu	37	17	36734771	36734771	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36734771C>A	uc002hqd.2	-	2	521	c.296G>T	c.(295-297)CGA>CTA	p.R99L	SRCIN1_uc002hqh.1_Missense_Mutation_p.R133L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	36734771	36734771	15650	17	C	A	A	31	31	SRCIN1	A	1	1
ERBB2	2064	broad.mit.edu	37	17	37865586	37865586	+	Missense_Mutation	SNP	G	T	T	rs151122410	byFrequency	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37865586G>T	uc002hso.2	+	4	693	c.455G>T	c.(454-456)GGG>GTG	p.G152V	ERBB2_uc002hsm.2_Missense_Mutation_p.G122V|ERBB2_uc010cwa.2_Missense_Mutation_p.G137V|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.G152V|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G122V|ERBB2_uc002hsn.1_Missense_Mutation_p.G152V	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	152	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			---	---	---	---	capture		Missense_Mutation	SNP	37865586	37865586	5399	17	G	T	T	43	43	ERBB2	T	2	2
KRT36	8689	broad.mit.edu	37	17	39642691	39642691	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39642691G>T	uc002hwt.2	-	7	1341	c.1341C>A	c.(1339-1341)ACC>ACA	p.T447T		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	447	Tail.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)																---	---	---	---	capture		Silent	SNP	39642691	39642691	8788	17	G	T	T	39	39	KRT36	T	1	1
NBR1	4077	broad.mit.edu	37	17	41345487	41345487	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41345487G>T	uc010czd.2	+	12	1496	c.1356G>T	c.(1354-1356)GAG>GAT	p.E452D	NBR1_uc010diz.2_Missense_Mutation_p.E452D|NBR1_uc010whu.1_Missense_Mutation_p.E452D|NBR1_uc010whv.1_Missense_Mutation_p.E452D|NBR1_uc010whw.1_Missense_Mutation_p.E431D|NBR1_uc010whx.1_Missense_Mutation_p.E261D	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	452					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)														---	---	---	---	capture		Missense_Mutation	SNP	41345487	41345487	10599	17	G	T	T	35	35	NBR1	T	2	2
MAPT	4137	broad.mit.edu	37	17	44096070	44096070	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44096070C>A	uc002ijr.3	+	13	2355	c.2035C>A	c.(2035-2037)CAC>AAC	p.H679N	MAPT_uc010dau.2_Missense_Mutation_p.H697N|MAPT_uc002ijs.3_Missense_Mutation_p.H362N|MAPT_uc002ijx.3_Missense_Mutation_p.H333N|MAPT_uc002ijt.3_Missense_Mutation_p.H304N|MAPT_uc002iju.3_Missense_Mutation_p.H273N|MAPT_uc002ijv.3_Missense_Mutation_p.H280N	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	679	Tau/MAP 4.				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---	capture		Missense_Mutation	SNP	44096070	44096070	9680	17	C	A	A	21	21	MAPT	A	2	2
KPNB1	3837	broad.mit.edu	37	17	45755688	45755688	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45755688G>T	uc002ilt.1	+	19	2598	c.2262G>T	c.(2260-2262)ATG>ATT	p.M754I	KPNB1_uc010wkw.1_Missense_Mutation_p.M609I|KPNB1_uc010wkx.1_Missense_Mutation_p.M538I	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	754					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	45755688	45755688	8750	17	G	T	T	47	47	KPNB1	T	2	2
HOXB13	10481	broad.mit.edu	37	17	46804387	46804387	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46804387G>T	uc002ioa.2	-	2	776	c.620C>A	c.(619-621)CCT>CAT	p.P207H	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	207					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46804387	46804387	7592	17	G	T	T	35	35	HOXB13	T	2	2
COL1A1	1277	broad.mit.edu	37	17	48278790	48278790	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48278790C>T	uc002iqm.2	-	1	211	c.85G>A	c.(85-87)GAG>AAG	p.E29K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	29					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---	capture		Missense_Mutation	SNP	48278790	48278790	3815	17	C	T	T	31	31	COL1A1	T	1	1
CA10	56934	broad.mit.edu	37	17	50008392	50008392	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50008392G>T	uc002itw.3	-	3	1223	c.237C>A	c.(235-237)GAC>GAA	p.D79E	CA10_uc002itv.3_Missense_Mutation_p.D85E|CA10_uc002itx.3_Missense_Mutation_p.D79E|CA10_uc002ity.3_Missense_Mutation_p.D79E|CA10_uc002itz.2_Missense_Mutation_p.D79E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	79					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---	capture		Missense_Mutation	SNP	50008392	50008392	2627	17	G	T	T	44	44	CA10	T	2	2
TOM1L1	10040	broad.mit.edu	37	17	52992097	52992097	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52992097C>A	uc002iud.2	+	6	771	c.596C>A	c.(595-597)CCA>CAA	p.P199Q	TOM1L1_uc002iub.2_Missense_Mutation_p.P164Q|TOM1L1_uc002iuc.2_Missense_Mutation_p.P199Q|TOM1L1_uc010dca.1_Missense_Mutation_p.P199Q|TOM1L1_uc010wnb.1_Missense_Mutation_p.P192Q|TOM1L1_uc010wnc.1_Missense_Mutation_p.P122Q|TOM1L1_uc010dbz.2_Missense_Mutation_p.P122Q|TOM1L1_uc010wnd.1_Intron|TOM1L1_uc010dcb.1_RNA	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	199					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	52992097	52992097	16893	17	C	A	A	21	21	TOM1L1	A	2	2
HLF	3131	broad.mit.edu	37	17	53392768	53392768	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53392768T>C	uc002iug.1	+	3	1157	c.632T>C	c.(631-633)ATC>ACC	p.I211T	HLF_uc010dce.1_Missense_Mutation_p.I126T|HLF_uc002iuh.2_Missense_Mutation_p.I126T|HLF_uc010wni.1_Missense_Mutation_p.I158T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	211					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2								T	TCF3	ALL								---	---	---	---	capture		Missense_Mutation	SNP	53392768	53392768	7505	17	T	C	C	50	50	HLF	C	4	4
AKAP1	8165	broad.mit.edu	37	17	55194248	55194248	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55194248G>T	uc002iux.2	+	8	2691	c.2460G>T	c.(2458-2460)CAG>CAT	p.Q820H	AKAP1_uc010wnl.1_Missense_Mutation_p.Q820H|AKAP1_uc010dcm.2_Missense_Mutation_p.Q820H	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	820					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	55194248	55194248	448	17	G	T	T	35	35	AKAP1	T	2	2
APPBP2	10513	broad.mit.edu	37	17	58538126	58538126	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58538126G>A	uc002iys.1	-	9	1247	c.959C>T	c.(958-960)TCA>TTA	p.S320L	APPBP2_uc010ddl.1_Missense_Mutation_p.S249L	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	320	TPR 4.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)															---	---	---	---	capture		Missense_Mutation	SNP	58538126	58538126	827	17	G	A	A	45	45	APPBP2	A	2	2
SCN4A	6329	broad.mit.edu	37	17	62028862	62028862	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62028862G>T	uc002jds.1	-	14	2852	c.2775C>A	c.(2773-2775)CCC>CCA	p.P925P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	925					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---	capture		Silent	SNP	62028862	62028862	14402	17	G	T	T	47	47	SCN4A	T	2	2
GPRC5C	55890	broad.mit.edu	37	17	72443069	72443069	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72443069G>T	uc002jks.2	+	3	1267	c.1228G>T	c.(1228-1230)GCT>TCT	p.A410S	GPRC5C_uc002jkp.2_Missense_Mutation_p.A455S|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.A422S|GPRC5C_uc002jkt.2_Missense_Mutation_p.A410S|GPRC5C_uc002jku.2_Missense_Mutation_p.A165S	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	410	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	72443069	72443069	7002	17	G	T	T	42	42	GPRC5C	T	2	2
GRIN2C	2905	broad.mit.edu	37	17	72840421	72840421	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72840421G>A	uc002jlt.1	-	12	2733	c.2577C>T	c.(2575-2577)TTC>TTT	p.F859F	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.F859F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	859	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)													---	---	---	---	capture		Silent	SNP	72840421	72840421	7060	17	G	A	A	45	45	GRIN2C	A	2	2
UBE2O	63893	broad.mit.edu	37	17	74394450	74394450	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74394450C>A	uc002jrm.3	-	12	1976	c.1911G>T	c.(1909-1911)GAG>GAT	p.E637D	UBE2O_uc002jrn.3_Missense_Mutation_p.E637D|UBE2O_uc002jrl.3_Missense_Mutation_p.E240D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	637							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5																OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	74394450	74394450	17425	17	C	A	A	24	24	UBE2O	A	2	2
JMJD6	23210	broad.mit.edu	37	17	74712771	74712771	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74712771G>T	uc002jsn.1	-	7	1566	c.1242C>A	c.(1240-1242)CCC>CCA	p.P414P		NM_001081461	NP_001074930	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 1	Error:Variant_position_missing_in_Q6NYC1_after_alignment					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	74712771	74712771	8257	17	G	T	T	35	35	JMJD6	T	2	2
ENGASE	64772	broad.mit.edu	37	17	77077136	77077136	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77077136G>A	uc002jwv.2	+	6	861	c.853G>A	c.(853-855)GAA>AAA	p.E285K	ENGASE_uc002jwu.1_Missense_Mutation_p.E285K|ENGASE_uc010wtz.1_Missense_Mutation_p.E99K|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	285						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	77077136	77077136	5311	17	G	A	A	37	37	ENGASE	A	1	1
ENPP7	339221	broad.mit.edu	37	17	77707323	77707323	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77707323C>G	uc002jxa.2	+	2	291	c.271C>G	c.(271-273)CAC>GAC	p.H91D		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	91					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---	capture		Missense_Mutation	SNP	77707323	77707323	5328	17	C	G	G	21	21	ENPP7	G	3	3
RNF213	57674	broad.mit.edu	37	17	78318592	78318592	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78318592G>T	uc002jyh.1	+	4	899	c.676G>T	c.(676-678)GGG>TGG	p.G226W		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---	capture		Missense_Mutation	SNP	78318592	78318592	13955	17	G	T	T	47	47	RNF213	T	2	2
RAB40B	10966	broad.mit.edu	37	17	80615789	80615789	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80615789G>T	uc002kft.2	-	6	913	c.787C>A	c.(787-789)CCC>ACC	p.P263T	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	263					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)															---	---	---	---	capture		Missense_Mutation	SNP	80615789	80615789	13400	17	G	T	T	43	43	RAB40B	T	2	2
METTL4	64863	broad.mit.edu	37	18	2544730	2544730	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2544730G>T	uc002klh.3	-	7	1883	c.1103C>A	c.(1102-1104)CCA>CAA	p.P368Q	METTL4_uc010dkj.2_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	368					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	2544730	2544730	9892	18	G	T	T	47	47	METTL4	T	2	2
MYOM1	8736	broad.mit.edu	37	18	3129295	3129295	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3129295G>T	uc002klp.2	-	18	3063	c.2729C>A	c.(2728-2730)CCA>CAA	p.P910Q	MYOM1_uc002klq.2_Intron	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	910						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	3129295	3129295	10486	18	G	T	T	47	47	MYOM1	T	2	2
AFG3L2	10939	broad.mit.edu	37	18	12358705	12358705	+	Silent	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12358705T>A	uc002kqz.1	-	8	1103	c.990A>T	c.(988-990)CCA>CCT	p.P330P		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	330					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)													---	---	---	---	capture		Silent	SNP	12358705	12358705	361	18	T	A	A	63	63	AFG3L2	A	4	4
ZNF521	25925	broad.mit.edu	37	18	22932080	22932080	+	Translation_Start_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22932080G>T	uc002kvk.2	-	1	135	c.-112C>A	c.(-114--110)CCCTG>CCATG		ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Translation_Start_Site|ZNF521_uc002kvl.2_Translation_Start_Site	NM_015461	NP_056276			zinc finger protein 521						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---	capture		Translation_Start_Site	SNP	22932080	22932080	18559	18	G	T	T	35	35	ZNF521	T	2	2
PSMA8	143471	broad.mit.edu	37	18	23731821	23731821	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23731821G>T	uc002kvq.2	+	3	361	c.247G>T	c.(247-249)GGA>TGA	p.G83*	PSMA8_uc002kvo.2_Splice_Site_p.G39_splice|PSMA8_uc002kvp.2_Splice_Site_p.G77_splice|PSMA8_uc002kvr.2_Splice_Site_p.G51_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	83					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---	capture		Nonsense_Mutation	SNP	23731821	23731821	13126	18	G	T	T	35	35	PSMA8	T	5	2
TAF4B	6875	broad.mit.edu	37	18	23866082	23866082	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23866082G>T	uc002kvu.3	+	7	1698	c.1209G>T	c.(1207-1209)GTG>GTT	p.V403V	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.V403V	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	403					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		Silent	SNP	23866082	23866082	16048	18	G	T	T	47	47	TAF4B	T	2	2
CHST9	83539	broad.mit.edu	37	18	24722673	24722673	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:24722673C>A	uc002kwd.2	-	1	299	c.101G>T	c.(100-102)TGG>TTG	p.W34L	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.W34L	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	34	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)																	---	---	---	---	capture		Missense_Mutation	SNP	24722673	24722673	3545	18	C	A	A	21	21	CHST9	A	2	2
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44555132G>T	uc010xdb.1	-	1	1318	c.1082C>A	c.(1081-1083)TCG>TAG	p.S361*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	361	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	44555132	44555132	16209	18	G	T	T	37	37	TCEB3C	T	5	1
ALPK2	115701	broad.mit.edu	37	18	56202524	56202524	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56202524A>G	uc002lhj.3	-	5	5109	c.4895T>C	c.(4894-4896)ATA>ACA	p.I1632T	ALPK2_uc002lhk.1_Missense_Mutation_p.I963T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1632							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	56202524	56202524	548	18	A	G	G	16	16	ALPK2	G	4	4
PHLPP1	23239	broad.mit.edu	37	18	60563036	60563036	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60563036G>T	uc002lis.2	+	7	878	c.700G>T	c.(700-702)GGA>TGA	p.G234*		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	746	LRR 5.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	60563036	60563036	12278	18	G	T	T	47	47	PHLPP1	T	5	2
GALR1	2587	broad.mit.edu	37	18	74962936	74962936	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74962936C>A	uc002lms.3	+	1	929	c.432C>A	c.(430-432)TCC>TCA	p.S144S		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	144	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)														---	---	---	---	capture		Silent	SNP	74962936	74962936	6491	18	C	A	A	24	24	GALR1	A	2	2
SALL3	27164	broad.mit.edu	37	18	76753968	76753968	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76753968G>A	uc002lmt.2	+	2	1977	c.1977G>A	c.(1975-1977)TCG>TCA	p.S659S	SALL3_uc010dra.2_Silent_p.S266S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)														---	---	---	---	capture		Silent	SNP	76753968	76753968	14292	18	G	A	A	39	39	SALL3	A	1	1
CIRBP	1153	broad.mit.edu	37	19	1271623	1271623	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1271623C>A	uc002lrr.3	+	5	572	c.423C>A	c.(421-423)TAC>TAA	p.Y141*	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.Y130*|CIRBP_uc002lrt.2_Nonsense_Mutation_p.Y141*|CIRBP_uc010xgl.1_Nonsense_Mutation_p.Y107*|CIRBP_uc002lrv.3_Nonsense_Mutation_p.Y141*|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	141	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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		Nonsense_Mutation	SNP	1271623	1271623	3567	19	C	A	A	20	20	CIRBP	A	5	2
TJP3	27134	broad.mit.edu	37	19	3738570	3738570	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3738570C>G	uc010xhv.1	+	11	1401	c.1401C>G	c.(1399-1401)TTC>TTG	p.F467L	TJP3_uc010xhs.1_Missense_Mutation_p.F434L|TJP3_uc010xht.1_Missense_Mutation_p.F398L|TJP3_uc010xhu.1_Missense_Mutation_p.F443L|TJP3_uc010xhw.1_Missense_Mutation_p.F453L	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	448	PDZ 3.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	3738570	3738570	16460	19	C	G	G	30	30	TJP3	G	3	3
TJP3	27134	broad.mit.edu	37	19	3738989	3738989	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3738989C>T	uc010xhv.1	+	12	1587	c.1587C>T	c.(1585-1587)TTC>TTT	p.F529F	TJP3_uc010xhs.1_Silent_p.F496F|TJP3_uc010xht.1_Silent_p.F460F|TJP3_uc010xhu.1_Silent_p.F505F|TJP3_uc010xhw.1_Silent_p.F515F	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	510	SH3.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Silent	SNP	3738989	3738989	16460	19	C	T	T	29	29	TJP3	T	2	2
ZNF559	84527	broad.mit.edu	37	19	9449884	9449884	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9449884G>C	uc002mlg.2	+	5	696	c.49G>C	c.(49-51)GAG>CAG	p.E17Q	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Missense_Mutation_p.E17Q|ZNF559_uc002mle.3_Missense_Mutation_p.E81Q|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_Missense_Mutation_p.E81Q|ZNF559_uc010dwo.1_Missense_Mutation_p.E45Q|ZNF559_uc002mlh.1_RNA|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	9449884	9449884	18585	19	G	C	C	45	45	ZNF559	C	3	3
CACNA1A	773	broad.mit.edu	37	19	13356032	13356032	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13356032C>A	uc010dze.2	-	31	5153	c.4917G>T	c.(4915-4917)CTG>CTT	p.L1639L	CACNA1A_uc010xnd.1_Silent_p.L344L|CACNA1A_uc002mwx.3_Silent_p.L344L|CACNA1A_uc010dzc.2_Silent_p.L1164L|CACNA1A_uc002mwy.3_Silent_p.L1638L|CACNA1A_uc010xne.1_Silent_p.L1167L|CACNA1A_uc002mwv.3_Silent_p.L155L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1639	Helical; Name=S3 of repeat IV; (Potential).|IV.				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)													---	---	---	---	capture		Silent	SNP	13356032	13356032	2654	19	C	A	A	21	21	CACNA1A	A	2	2
ZSWIM4	65249	broad.mit.edu	37	19	13941475	13941475	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13941475G>T	uc002mxh.1	+	13	2770	c.2581G>T	c.(2581-2583)GAG>TAG	p.E861*	ZSWIM4_uc010xng.1_Nonsense_Mutation_p.E784*	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	861							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)															---	---	---	---	capture		Nonsense_Mutation	SNP	13941475	13941475	18847	19	G	T	T	37	37	ZSWIM4	T	5	1
RLN3	117579	broad.mit.edu	37	19	14141522	14141522	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14141522G>T	uc002mxw.1	+	2	191	c.191G>T	c.(190-192)GGA>GTA	p.G64V	IL27RA_uc002mxx.2_5'Flank|RLN3_uc010dzj.1_Missense_Mutation_p.E101D	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	relaxin 3 preproprotein	64						extracellular region	hormone activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	14141522	14141522	13870	19	G	T	T	41	41	RLN3	T	2	2
BRD4	23476	broad.mit.edu	37	19	15349944	15349944	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15349944C>A	uc002nar.2	-	18	3930	c.3708G>T	c.(3706-3708)GAG>GAT	p.E1236D		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1236					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)					T	NUT|C15orf55	lethal midline carcinoma of young people								---	---	---	---	capture		Missense_Mutation	SNP	15349944	15349944	1535	19	C	A	A	28	28	BRD4	A	2	2
TMEM38A	79041	broad.mit.edu	37	19	16791207	16791207	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16791207G>T	uc002nes.2	+	3	373	c.282_splice	c.e3-1	p.W94_splice		NM_024074	NP_076979			transmembrane protein 38A							integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Splice_Site	SNP	16791207	16791207	16698	19	G	T	T	35	35	TMEM38A	T	5	2
ANKLE1	126549	broad.mit.edu	37	19	17396239	17396239	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17396239G>T	uc002nga.2	+	7	1653	c.1377_splice	c.e7-1	p.R459_splice	ANKLE1_uc010xpm.1_Splice_Site|ANKLE1_uc010eao.1_Splice_Site_p.R455_splice|ANKLE1_uc010xpn.1_Splice_Site_p.R487_splice|ANKLE1_uc002nfy.2_Splice_Site_p.R422_splice|ANKLE1_uc002nfz.2_Splice_Site_p.R165_splice	NM_152363	NP_689576			ankyrin repeat domain 41							nuclear envelope					0																		---	---	---	---	capture		Splice_Site	SNP	17396239	17396239	635	19	G	T	T	35	35	ANKLE1	T	5	2
ZNF85	7639	broad.mit.edu	37	19	21132556	21132556	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21132556C>A	uc002npg.3	+	4	1363	c.1236C>A	c.(1234-1236)ACC>ACA	p.T412T	ZNF85_uc010ecn.2_Silent_p.T347T|ZNF85_uc010eco.2_Silent_p.T360T|ZNF85_uc002npi.2_Silent_p.T353T	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	412	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	21132556	21132556	18795	19	C	A	A	22	22	ZNF85	A	2	2
ZNF43	7594	broad.mit.edu	37	19	21990893	21990893	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21990893G>C	uc002nqj.2	-	4	2076	c.1946C>G	c.(1945-1947)CCC>CGC	p.P649R	ZNF43_uc010ecv.2_Missense_Mutation_p.P643R|ZNF43_uc002nql.2_Missense_Mutation_p.P643R|ZNF43_uc002nqm.2_Missense_Mutation_p.P643R|ZNF43_uc002nqk.2_Missense_Mutation_p.P579R	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)														---	---	---	---	capture		Missense_Mutation	SNP	21990893	21990893	18496	19	G	C	C	43	43	ZNF43	C	3	3
ZNF675	171392	broad.mit.edu	37	19	23836935	23836935	+	Missense_Mutation	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23836935T>A	uc002nri.2	-	4	982	c.800A>T	c.(799-801)CAG>CTG	p.Q267L		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	267	C2H2-type 5.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)																---	---	---	---	capture		Missense_Mutation	SNP	23836935	23836935	18677	19	T	A	A	55	55	ZNF675	A	4	4
ZNF681	148213	broad.mit.edu	37	19	23927658	23927658	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23927658C>A	uc002nrk.3	-	4	836	c.694G>T	c.(694-696)GGC>TGC	p.G232C	ZNF681_uc002nrl.3_Missense_Mutation_p.G163C|ZNF681_uc002nrj.3_Missense_Mutation_p.G163C	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	232	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)																---	---	---	---	capture		Missense_Mutation	SNP	23927658	23927658	18683	19	C	A	A	21	21	ZNF681	A	2	2
KIAA0355	9710	broad.mit.edu	37	19	34818703	34818703	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34818703G>T	uc002nvd.3	+	5	1733	c.874G>T	c.(874-876)GGA>TGA	p.G292*		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	292										ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Nonsense_Mutation	SNP	34818703	34818703	8477	19	G	T	T	35	35	KIAA0355	T	5	2
SCGBL	284402	broad.mit.edu	37	19	35085114	35085114	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35085114G>T	uc002nvn.2	-	2	234	c.212C>A	c.(211-213)TCC>TAC	p.S71Y		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	71						extracellular region	binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	35085114	35085114	14384	19	G	T	T	41	41	SCGBL	T	2	2
PSENEN	55851	broad.mit.edu	37	19	36237392	36237392	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36237392C>A	uc002obi.1	+	3	338	c.134C>A	c.(133-135)CCA>CAA	p.P45Q	TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.P45Q|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	presenilin enhancer 2	45	Cytoplasmic (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 membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			ovary(2)	2	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---	capture		Missense_Mutation	SNP	36237392	36237392	13105	19	C	A	A	21	21	PSENEN	A	2	2
LIN37	55957	broad.mit.edu	37	19	36245203	36245203	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36245203G>C	uc002obm.2	+	9	756	c.642G>C	c.(640-642)TGG>TGC	p.W214C	uc002obl.2_5'Flank	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog	214							protein binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---	capture		Missense_Mutation	SNP	36245203	36245203	9134	19	G	C	C	41	41	LIN37	C	3	3
NPHS1	4868	broad.mit.edu	37	19	36335228	36335228	+	Silent	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36335228G>C	uc002oby.2	-	15	2064	c.2064C>G	c.(2062-2064)CTC>CTG	p.L688L		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	688	Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---	capture		Silent	SNP	36335228	36335228	10986	19	G	C	C	45	45	NPHS1	C	3	3
ZFP14	57677	broad.mit.edu	37	19	36832139	36832139	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36832139C>T	uc002odx.1	-	4	682	c.589G>A	c.(589-591)GAG>AAG	p.E197K	ZFP14_uc010xtd.1_Missense_Mutation_p.E198K|ZFP14_uc010eex.1_Missense_Mutation_p.E197K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	36832139	36832139	18227	19	C	T	T	29	29	ZFP14	T	2	2
ZNF420	147923	broad.mit.edu	37	19	37619911	37619911	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37619911A>G	uc002ofl.2	+	5	2233	c.2018A>G	c.(2017-2019)TAT>TGT	p.Y673C		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37619911	37619911	18490	19	A	G	G	16	16	ZNF420	G	4	4
ZFP30	22835	broad.mit.edu	37	19	38134192	38134192	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38134192C>A	uc002ogv.1	-	5	725	c.209G>T	c.(208-210)AGG>ATG	p.R70M	ZFP30_uc002ogw.1_Missense_Mutation_p.R70M|ZFP30_uc002ogx.1_Missense_Mutation_p.R70M|ZFP30_uc010xtt.1_Missense_Mutation_p.R69M	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	38134192	38134192	18232	19	C	A	A	24	24	ZFP30	A	2	2
SUPT5H	6829	broad.mit.edu	37	19	39950220	39950220	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39950220C>G	uc002olo.3	+	9	725	c.546C>G	c.(544-546)GTC>GTG	p.V182V	SUPT5H_uc002olp.3_Silent_p.V182V|SUPT5H_uc002olq.3_Silent_p.V178V|SUPT5H_uc002oln.3_Silent_p.V182V|SUPT5H_uc002olr.3_Silent_p.V182V	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	182	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---	capture		Silent	SNP	39950220	39950220	15919	19	C	G	G	29	29	SUPT5H	G	3	3
HIPK4	147746	broad.mit.edu	37	19	40895610	40895610	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40895610G>T	uc002onp.2	-	1	485	c.200C>A	c.(199-201)CCT>CAT	p.P67H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	67	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)															---	---	---	---	capture		Missense_Mutation	SNP	40895610	40895610	7404	19	G	T	T	35	35	HIPK4	T	2	2
LTBP4	8425	broad.mit.edu	37	19	41123067	41123067	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41123067C>A	uc002ooh.1	+	24	3207	c.3207C>A	c.(3205-3207)CCC>CCA	p.P1069P	LTBP4_uc002oog.1_Silent_p.P1032P|LTBP4_uc002ooi.1_Silent_p.P1002P|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1069	Cys-rich.|EGF-like 12; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---	capture		Silent	SNP	41123067	41123067	9452	19	C	A	A	23	23	LTBP4	A	1	1
TEX101	83639	broad.mit.edu	37	19	43922432	43922432	+	Missense_Mutation	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43922432T>A	uc010xwo.1	+	6	828	c.633T>A	c.(631-633)CAT>CAA	p.H211Q	TEX101_uc002owk.2_Missense_Mutation_p.H229Q	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 2	211						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)																---	---	---	---	capture		Missense_Mutation	SNP	43922432	43922432	16300	19	T	A	A	50	50	TEX101	A	4	4
ZNF45	7596	broad.mit.edu	37	19	44418134	44418134	+	Nonsense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44418134G>C	uc002oxu.1	-	4	1553	c.1454C>G	c.(1453-1455)TCA>TGA	p.S485*	ZNF45_uc002oxw.1_Nonsense_Mutation_p.S485*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S485*	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	485	C2H2-type 12.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	44418134	44418134	18514	19	G	C	C	45	45	ZNF45	C	5	3
ZNF285	26974	broad.mit.edu	37	19	44891495	44891495	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44891495G>T	uc002ozd.3	-	4	999	c.912C>A	c.(910-912)CCC>CCA	p.P304P	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.P311P	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---	capture		Silent	SNP	44891495	44891495	18414	19	G	T	T	47	47	ZNF285	T	2	2
ZNF229	7772	broad.mit.edu	37	19	44934257	44934257	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44934257G>A	uc002oze.1	-	6	1133	c.699C>T	c.(697-699)TTC>TTT	p.F233F	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.F227F	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)																---	---	---	---	capture		Silent	SNP	44934257	44934257	18373	19	G	A	A	41	41	ZNF229	A	2	2
PPP1R13L	10848	broad.mit.edu	37	19	45885827	45885827	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45885827C>A	uc002pbn.2	-	12	2483	c.2406G>T	c.(2404-2406)GCG>GCT	p.A802A	PPP1R13L_uc002pbm.2_Silent_p.A381A|PPP1R13L_uc002pbo.2_Silent_p.A802A	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)														---	---	---	---	capture		Silent	SNP	45885827	45885827	12793	19	C	A	A	27	27	PPP1R13L	A	1	1
FOSB	2354	broad.mit.edu	37	19	45974170	45974170	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45974170C>A	uc002pbx.3	+	2	1002	c.410C>A	c.(409-411)CCA>CAA	p.P137Q	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.P137Q|FOSB_uc010eke.2_Missense_Mutation_p.P98Q|FOSB_uc002pby.3_Missense_Mutation_p.P137Q|FOSB_uc010eka.1_Missense_Mutation_p.P98Q|FOSB_uc010ekb.1_Missense_Mutation_p.P137Q|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Missense_Mutation_p.P98Q|FOSB_uc010ekd.1_Missense_Mutation_p.P137Q|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.P88Q	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	137					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)														---	---	---	---	capture		Missense_Mutation	SNP	45974170	45974170	6228	19	C	A	A	21	21	FOSB	A	2	2
NOVA2	4858	broad.mit.edu	37	19	46443327	46443327	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46443327C>A	uc002pdv.2	-	4	1321	c.1273G>T	c.(1273-1275)GGG>TGG	p.G425W		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	425	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)														---	---	---	---	capture		Missense_Mutation	SNP	46443327	46443327	10959	19	C	A	A	22	22	NOVA2	A	2	2
LIG1	3978	broad.mit.edu	37	19	48631193	48631193	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48631193G>T	uc002pia.1	-	20	2026	c.1906C>A	c.(1906-1908)CAA>AAA	p.Q636K	LIG1_uc010xze.1_Missense_Mutation_p.Q329K|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.Q568K|LIG1_uc010xzg.1_Missense_Mutation_p.Q605K	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	636					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---	capture		Missense_Mutation	SNP	48631193	48631193	9107	19	G	T	T	47	47	LIG1	T	2	2
HRC	3270	broad.mit.edu	37	19	49657014	49657014	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49657014G>C	uc002pmv.2	-	1	1668	c.1481C>G	c.(1480-1482)TCC>TGC	p.S494C		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	494					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)														---	---	---	---	capture		Missense_Mutation	SNP	49657014	49657014	7644	19	G	C	C	41	41	HRC	C	3	3
ZNF175	7728	broad.mit.edu	37	19	52090605	52090605	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52090605G>T	uc002pxb.2	+	5	1399	c.1021G>T	c.(1021-1023)GGG>TGG	p.G341W		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	341	C2H2-type 3.				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)														---	---	---	---	capture		Missense_Mutation	SNP	52090605	52090605	18336	19	G	T	T	47	47	ZNF175	T	2	2
ZNF28	7576	broad.mit.edu	37	19	53302992	53302992	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53302992C>A	uc002qad.2	-	4	2226	c.2106G>T	c.(2104-2106)CAG>CAT	p.Q702H	ZNF28_uc002qac.2_Missense_Mutation_p.Q649H|ZNF28_uc010eqe.2_Missense_Mutation_p.Q648H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	702	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---	capture		Missense_Mutation	SNP	53302992	53302992	18405	19	C	A	A	32	32	ZNF28	A	2	2
LILRB1	10859	broad.mit.edu	37	19	55143642	55143642	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55143642C>A	uc002qgj.2	+	6	955	c.615C>A	c.(613-615)CCC>CCA	p.P205P	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.P205P|LILRB1_uc002qgk.2_Silent_p.P205P|LILRB1_uc002qgm.2_Silent_p.P205P|LILRB1_uc010erq.2_Silent_p.P205P|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	205	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)											HNSCC(37;0.09)			---	---	---	---	capture		Silent	SNP	55143642	55143642	9116	19	C	A	A	24	24	LILRB1	A	2	2
KIR2DS4	3809	broad.mit.edu	37	19	55349259	55349259	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55349259G>A	uc002qhm.1	+	3	345	c.299G>A	c.(298-300)TGC>TAC	p.C100Y	KIR2DS4_uc010yfj.1_Missense_Mutation_p.C93Y|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.C100Y|KIR2DS4_uc002qhn.1_Missense_Mutation_p.C47Y	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	100	Extracellular (Potential).|Ig-like C2-type 1.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Missense_Mutation	SNP	55349259	55349259	8631	19	G	A	A	46	46	KIR2DS4	A	2	2
NLRP4	147945	broad.mit.edu	37	19	56370258	56370258	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56370258G>T	uc002qmd.3	+	3	1921	c.1499G>T	c.(1498-1500)GGG>GTG	p.G500V	NLRP4_uc002qmf.2_Missense_Mutation_p.G425V|NLRP4_uc010etf.2_Missense_Mutation_p.G331V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	500							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	56370258	56370258	10882	19	G	T	T	43	43	NLRP4	T	2	2
NLRP4	147945	broad.mit.edu	37	19	56390162	56390162	+	Missense_Mutation	SNP	T	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56390162T>G	uc002qmd.3	+	9	3121	c.2699T>G	c.(2698-2700)TTG>TGG	p.L900W	NLRP4_uc002qmf.2_Missense_Mutation_p.L825W|NLRP4_uc010etf.2_Missense_Mutation_p.L675W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	900							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	56390162	56390162	10882	19	T	G	G	63	63	NLRP4	G	4	4
PEG3	5178	broad.mit.edu	37	19	57333050	57333050	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57333050C>A	uc002qnu.2	-	4	989	c.638G>T	c.(637-639)AGG>ATG	p.R213M	ZIM2_uc010ygq.1_Translation_Start_Site|ZIM2_uc010ygr.1_Translation_Start_Site|ZIM2_uc002qnr.2_Missense_Mutation_p.R88M|ZIM2_uc002qnq.2_Missense_Mutation_p.R88M|ZIM2_uc010etp.2_Missense_Mutation_p.R88M|ZIM2_uc010ygs.1_Missense_Mutation_p.R88M|PEG3_uc002qnt.2_Missense_Mutation_p.R214M|PEG3_uc002qnv.2_Missense_Mutation_p.R213M|PEG3_uc002qnw.2_Missense_Mutation_p.R88M|PEG3_uc002qnx.2_Missense_Mutation_p.R87M|PEG3_uc010etr.2_Missense_Mutation_p.R213M	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	213					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---	capture		Missense_Mutation	SNP	57333050	57333050	12141	19	C	A	A	24	24	PEG3	A	2	2
PEG3	5178	broad.mit.edu	37	19	57333099	57333099	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57333099G>T	uc002qnu.2	-	4	940	c.589C>A	c.(589-591)CTT>ATT	p.L197I	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.L72I|ZIM2_uc002qnq.2_Missense_Mutation_p.L72I|ZIM2_uc010etp.2_Missense_Mutation_p.L72I|ZIM2_uc010ygs.1_Missense_Mutation_p.L72I|PEG3_uc002qnt.2_Missense_Mutation_p.L198I|PEG3_uc002qnv.2_Missense_Mutation_p.L197I|PEG3_uc002qnw.2_Missense_Mutation_p.L72I|PEG3_uc002qnx.2_Missense_Mutation_p.L71I|PEG3_uc010etr.2_Missense_Mutation_p.L197I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	197					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---	capture		Missense_Mutation	SNP	57333099	57333099	12141	19	G	T	T	35	35	PEG3	T	2	2
ZNF8	7554	broad.mit.edu	37	19	58806072	58806072	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58806072C>A	uc002qry.1	+	4	1028	c.898C>A	c.(898-900)CTC>ATC	p.L300I	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	300	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---	capture		Missense_Mutation	SNP	58806072	58806072	18765	19	C	A	A	24	24	ZNF8	A	2	2
GREB1	9687	broad.mit.edu	37	2	11718444	11718444	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11718444C>A	uc002rbk.1	+	6	959	c.659C>A	c.(658-660)CCC>CAC	p.P220H	GREB1_uc002rbl.2_Missense_Mutation_p.P220H|GREB1_uc002rbm.2_Missense_Mutation_p.P110H|GREB1_uc002rbn.1_Missense_Mutation_p.P220H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	220						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	11718444	11718444	7037	2	C	A	A	22	22	GREB1	A	2	2
APOB	338	broad.mit.edu	37	2	21233980	21233980	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21233980C>A	uc002red.2	-	26	5888	c.5760G>T	c.(5758-5760)TGG>TGT	p.W1920C		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1920					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---	capture		Missense_Mutation	SNP	21233980	21233980	796	2	C	A	A	22	22	APOB	A	2	2
DNMT3A	1788	broad.mit.edu	37	2	25462032	25462032	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25462032C>T	uc002rgc.2	-	20	2632	c.2375G>A	c.(2374-2376)CGC>CAC	p.R792H	DNMT3A_uc002rgd.2_Missense_Mutation_p.R792H|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R603H	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	792					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R792H(1)		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		Missense_Mutation	SNP	25462032	25462032	4859	2	C	T	T	27	27	DNMT3A	T	1	1
C2orf18	54978	broad.mit.edu	37	2	26997929	26997929	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26997929G>T	uc002rhp.1	+	3	244	c.168G>T	c.(166-168)CTG>CTT	p.L56L	C2orf18_uc002rhq.1_Intron|C2orf18_uc010eyo.1_Silent_p.L3L|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	56	Helical; (Potential).					integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Silent	SNP	26997929	26997929	2244	2	G	T	T	47	47	C2orf18	T	2	2
SLC4A1AP	22950	broad.mit.edu	37	2	27900188	27900188	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27900188G>C	uc002rlk.3	+	7	1815	c.1533G>C	c.(1531-1533)AGG>AGC	p.R511S		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	511	Potential.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27900188	27900188	15150	2	G	C	C	43	43	SLC4A1AP	C	3	3
YIPF4	84272	broad.mit.edu	37	2	32517245	32517245	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32517245G>T	uc002rok.2	+	3	501	c.234_splice	c.e3-1	p.L78_splice		NM_032312	NP_115688			Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Splice_Site	SNP	32517245	32517245	18063	2	G	T	T	35	35	YIPF4	T	5	2
BIRC6	57448	broad.mit.edu	37	2	32738083	32738083	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32738083C>T	uc010ezu.2	+	54	10564	c.10430C>T	c.(10429-10431)CCT>CTT	p.P3477L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3477					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	32738083	32738083	1463	2	C	T	T	24	24	BIRC6	T	2	2
BIRC6	57448	broad.mit.edu	37	2	32740349	32740349	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32740349G>C	uc010ezu.2	+	55	10995	c.10861G>C	c.(10861-10863)GAA>CAA	p.E3621Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3621					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	32740349	32740349	1463	2	G	C	C	45	45	BIRC6	C	3	3
BIRC6	57448	broad.mit.edu	37	2	32774431	32774431	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32774431C>G	uc010ezu.2	+	65	13161	c.13027C>G	c.(13027-13029)CAG>GAG	p.Q4343E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4343					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	32774431	32774431	1463	2	C	G	G	29	29	BIRC6	G	3	3
THADA	63892	broad.mit.edu	37	2	43514059	43514059	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43514059G>T	uc002rsw.3	-	35	5504	c.5152C>A	c.(5152-5154)CAT>AAT	p.H1718N	THADA_uc010far.2_Missense_Mutation_p.H913N|THADA_uc002rsx.3_Missense_Mutation_p.H1718N|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1718							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---	capture		Missense_Mutation	SNP	43514059	43514059	16368	2	G	T	T	47	47	THADA	T	2	2
ABCG8	64241	broad.mit.edu	37	2	44099383	44099383	+	Silent	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44099383C>T	uc002rtq.2	+	8	1239	c.1149C>T	c.(1147-1149)ACC>ACT	p.T383T	ABCG8_uc010yoa.1_Silent_p.T382T	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	383	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Silent	SNP	44099383	44099383	73	2	C	T	T	21	21	ABCG8	T	2	2
ABCG8	64241	broad.mit.edu	37	2	44100975	44100975	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44100975G>T	uc002rtq.2	+	9	1351	c.1261G>T	c.(1261-1263)GGG>TGG	p.G421W	ABCG8_uc010yoa.1_Missense_Mutation_p.G420W	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	421	Helical; Name=1; (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	44100975	44100975	73	2	G	T	T	47	47	ABCG8	T	2	2
SIX3	6496	broad.mit.edu	37	2	45169910	45169910	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45169910G>C	uc002run.1	+	1	874	c.667G>C	c.(667-669)GAG>CAG	p.E223Q		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	223	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	45169910	45169910	14843	2	G	C	C	41	41	SIX3	C	3	3
SIX2	10736	broad.mit.edu	37	2	45233458	45233458	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45233458G>T	uc002ruo.2	-	2	1020	c.727C>A	c.(727-729)CTG>ATG	p.L243M	SIX2_uc002rup.2_Missense_Mutation_p.L245M	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	243						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---	capture		Missense_Mutation	SNP	45233458	45233458	14842	2	G	T	T	35	35	SIX2	T	2	2
EPCAM	4072	broad.mit.edu	37	2	47612328	47612328	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47612328G>T	uc002rvx.2	+	8	1240	c.882G>T	c.(880-882)ATG>ATT	p.M294I	EPCAM_uc002rvw.2_Missense_Mutation_p.M322I	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	294	Cytoplasmic (Potential).				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding			skin(1)	1														Lynch_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	47612328	47612328	5355	2	G	T	T	47	47	EPCAM	T	2	2
MSH2	4436	broad.mit.edu	37	2	47637275	47637275	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47637275G>T	uc002rvy.1	+	3	477	c.409G>T	c.(409-411)GGT>TGT	p.G137C	MSH2_uc010yoh.1_Missense_Mutation_p.G71C|MSH2_uc002rvz.2_Missense_Mutation_p.G137C|MSH2_uc010fbg.2_5'UTR|MSH2_uc010fbf.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	137					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	47637275	47637275	10263	2	G	T	T	47	47	MSH2	T	2	2
MSH2	4436	broad.mit.edu	37	2	47637310	47637310	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47637310G>T	uc002rvy.1	+	3	512	c.444G>T	c.(442-444)GTG>GTT	p.V148V	MSH2_uc010yoh.1_Silent_p.V82V|MSH2_uc002rvz.2_Silent_p.V148V|MSH2_uc010fbg.2_Silent_p.V8V|MSH2_uc010fbf.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	148					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Silent	SNP	47637310	47637310	10263	2	G	T	T	47	47	MSH2	T	2	2
CCDC88A	55704	broad.mit.edu	37	2	55529038	55529038	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55529038A>T	uc002ryv.2	-	27	5481	c.4639T>A	c.(4639-4641)TTC>ATC	p.F1547I	CCDC88A_uc010yoz.1_Missense_Mutation_p.F1520I|CCDC88A_uc010ypa.1_Missense_Mutation_p.F1547I|CCDC88A_uc010fbw.2_Intron|CCDC88A_uc002ryu.2_Missense_Mutation_p.F802I|CCDC88A_uc002rys.2_Missense_Mutation_p.F505I|CCDC88A_uc002ryw.2_Missense_Mutation_p.F831I|CCDC88A_uc010fby.1_Missense_Mutation_p.F399I	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1548					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	55529038	55529038	2988	2	A	T	T	3	3	CCDC88A	T	4	4
CCDC104	112942	broad.mit.edu	37	2	55771501	55771501	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55771501T>C	uc002ryy.2	+	9	1121	c.923T>C	c.(922-924)GTA>GCA	p.V308A	CCDC104_uc002ryx.2_Missense_Mutation_p.V333A	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	308										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---	capture		Missense_Mutation	SNP	55771501	55771501	2859	2	T	C	C	57	57	CCDC104	C	4	4
C2orf86	51057	broad.mit.edu	37	2	63631216	63631216	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63631216T>C	uc002sch.2	-	10	1848	c.1402A>G	c.(1402-1404)AGA>GGA	p.R468G	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.R309G|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.R276G|C2orf86_uc002sci.1_Missense_Mutation_p.R444G|C2orf86_uc010fcr.1_Missense_Mutation_p.R358G	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	468					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	63631216	63631216	2293	2	T	C	C	56	56	C2orf86	C	4	4
CEP68	23177	broad.mit.edu	37	2	65300066	65300066	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65300066C>A	uc002sdl.3	+	3	2050	c.1836C>A	c.(1834-1836)CCC>CCA	p.P612P	CEP68_uc002sdj.2_Silent_p.P612P|CEP68_uc010yqb.1_Silent_p.P612P|CEP68_uc002sdk.3_Intron|CEP68_uc010yqc.1_Silent_p.P612P|CEP68_uc010yqd.1_Silent_p.P612P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	612					centrosome organization	centrosome				skin(1)	1																		---	---	---	---	capture		Silent	SNP	65300066	65300066	3391	2	C	A	A	21	21	CEP68	A	2	2
C2orf42	54980	broad.mit.edu	37	2	70377628	70377628	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70377628G>T	uc002sgh.2	-	10	1913	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	529											0																		---	---	---	---	capture		Missense_Mutation	SNP	70377628	70377628	2254	2	G	T	T	47	47	C2orf42	T	2	2
ALMS1	7840	broad.mit.edu	37	2	73717530	73717530	+	Nonsense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717530C>G	uc002sje.1	+	12	8558	c.8447C>G	c.(8446-8448)TCA>TGA	p.S2816*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.S2772*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.S2202*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.S2202*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2814					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	73717530	73717530	538	2	C	G	G	29	29	ALMS1	G	5	3
MAP4K4	9448	broad.mit.edu	37	2	102482990	102482990	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102482990G>T	uc002tbg.2	+	18	2126	c.2071G>T	c.(2071-2073)GGG>TGG	p.G691W	MAP4K4_uc002tbc.2_Missense_Mutation_p.G769W|MAP4K4_uc002tbd.2_Missense_Mutation_p.G661W|MAP4K4_uc002tbe.2_Missense_Mutation_p.G607W|MAP4K4_uc002tbf.2_Missense_Mutation_p.G661W|MAP4K4_uc010yvy.1_Missense_Mutation_p.G684W|MAP4K4_uc002tbh.2_Missense_Mutation_p.G606W|MAP4K4_uc002tbi.2_Missense_Mutation_p.G491W|MAP4K4_uc010yvz.1_Missense_Mutation_p.G664W|MAP4K4_uc002tbk.2_Missense_Mutation_p.G146W|MAP4K4_uc002tbl.2_5'UTR	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	691					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	102482990	102482990	9645	2	G	T	T	39	39	MAP4K4	T	1	1
MFSD9	84804	broad.mit.edu	37	2	103353166	103353166	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103353166G>T	uc002tcb.2	-	1	172	c.104C>A	c.(103-105)GCC>GAC	p.A35D	TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	35					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	103353166	103353166	9929	2	G	T	T	42	42	MFSD9	T	2	2
NPHP1	4867	broad.mit.edu	37	2	110926116	110926116	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:110926116G>T	uc002tfn.3	-	6	631	c.537C>A	c.(535-537)CTC>CTA	p.L179L	NPHP1_uc002tfm.3_Silent_p.L179L|NPHP1_uc002tfl.3_Silent_p.L179L|NPHP1_uc002tfo.3_Silent_p.L117L|NPHP1_uc010ywx.1_Silent_p.L179L|NPHP1_uc010fjv.1_Silent_p.L179L	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	179	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	110926116	110926116	10983	2	G	T	T	41	41	NPHP1	T	2	2
CLASP1	23332	broad.mit.edu	37	2	122125401	122125401	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122125401G>T	uc002tnc.2	-	34	4039	c.3649C>A	c.(3649-3651)CGC>AGC	p.R1217S	CLASP1_uc010yyv.1_Missense_Mutation_p.R263S|CLASP1_uc002tmz.2_Missense_Mutation_p.R302S|CLASP1_uc002tna.2_Missense_Mutation_p.R263S|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.R1158S|CLASP1_uc010yza.1_Missense_Mutation_p.R1150S|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.R53S|CLASP1_uc002tnf.2_Missense_Mutation_p.R119S	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1217					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)																	---	---	---	---	capture		Missense_Mutation	SNP	122125401	122125401	3590	2	G	T	T	39	39	CLASP1	T	1	1
NCKAP5	344148	broad.mit.edu	37	2	133541068	133541068	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133541068C>A	uc002ttp.2	-	14	3690	c.3316G>T	c.(3316-3318)GGG>TGG	p.G1106W	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1106	Ser-rich.						protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	133541068	133541068	10622	2	C	A	A	24	24	NCKAP5	A	2	2
NCKAP5	344148	broad.mit.edu	37	2	133618158	133618158	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133618158C>G	uc002ttp.2	-	11	1088	c.714G>C	c.(712-714)TTG>TTC	p.L238F	NCKAP5_uc002ttq.2_Missense_Mutation_p.L238F	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	238	Potential.						protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	133618158	133618158	10622	2	C	G	G	29	29	NCKAP5	G	3	3
STAM2	10254	broad.mit.edu	37	2	152977291	152977291	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152977291G>C	uc002tyc.3	-	14	1725	c.1375C>G	c.(1375-1377)CCT>GCT	p.P459A		NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	459					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	152977291	152977291	15768	2	G	C	C	41	41	STAM2	C	3	3
KCNJ3	3760	broad.mit.edu	37	2	155555379	155555379	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155555379A>T	uc002tyv.1	+	1	287	c.92A>T	c.(91-93)CAG>CTG	p.Q31L	KCNJ3_uc010zce.1_Missense_Mutation_p.Q31L	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	31	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)													---	---	---	---	capture		Missense_Mutation	SNP	155555379	155555379	8357	2	A	T	T	7	7	KCNJ3	T	4	4
ACVR1	90	broad.mit.edu	37	2	158622653	158622653	+	Silent	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158622653A>G	uc002tzm.3	-	9	1185	c.846T>C	c.(844-846)ATT>ATC	p.I282I	ACVR1_uc002tzn.3_Silent_p.I282I|ACVR1_uc010fog.2_Silent_p.I282I	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	282	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)													---	---	---	---	capture		Silent	SNP	158622653	158622653	221	2	A	G	G	13	13	ACVR1	G	4	4
TANC1	85461	broad.mit.edu	37	2	160075814	160075814	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160075814C>A	uc002uag.2	+	21	3718	c.3444C>A	c.(3442-3444)CCC>CCA	p.P1148P	TANC1_uc010zcm.1_Silent_p.P1140P|TANC1_uc010fom.1_Silent_p.P954P|TANC1_uc010fon.2_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1148	ANK 8.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	160075814	160075814	16065	2	C	A	A	22	22	TANC1	A	2	2
BAZ2B	29994	broad.mit.edu	37	2	160304853	160304853	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160304853C>A	uc002uao.2	-	5	754	c.402G>T	c.(400-402)CTG>CTT	p.L134L	BAZ2B_uc002uap.2_Silent_p.L132L|BAZ2B_uc002uas.1_Silent_p.L71L|BAZ2B_uc002uau.1_Silent_p.L132L|BAZ2B_uc002uaq.1_Silent_p.L62L|BAZ2B_uc002uat.3_Silent_p.L71L|BAZ2B_uc010fop.1_Silent_p.L132L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	160304853	160304853	1353	2	C	A	A	21	21	BAZ2B	A	2	2
ABCB11	8647	broad.mit.edu	37	2	169789044	169789044	+	Splice_Site	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169789044C>A	uc002ueo.1	-	24	3183	c.3057_splice	c.e24-1	p.R1019_splice	ABCB11_uc010zda.1_Splice_Site_p.R461_splice|ABCB11_uc010zdb.1_Splice_Site_p.R495_splice	NM_003742	NP_003733			ATP-binding cassette, sub-family B (MDR/TAP),						bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---	capture		Splice_Site	SNP	169789044	169789044	43	2	C	A	A	24	24	ABCB11	A	5	2
MYO3B	140469	broad.mit.edu	37	2	171073828	171073828	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171073828G>T	uc002ufy.2	+	6	670	c.527_splice	c.e6-1	p.G176_splice	MYO3B_uc002ufv.2_Splice_Site_p.G163_splice|MYO3B_uc010fqb.1_Splice_Site_p.G163_splice|MYO3B_uc002ufz.2_Splice_Site_p.G176_splice|MYO3B_uc002ufw.2_Splice_Site|MYO3B_uc002ufx.2_Splice_Site|MYO3B_uc002uga.2_Splice_Site_p.G163_splice	NM_138995	NP_620482			myosin IIIB isoform 2						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		Splice_Site	SNP	171073828	171073828	10472	2	G	T	T	35	35	MYO3B	T	5	2
DIRC1	116093	broad.mit.edu	37	2	189599468	189599468	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189599468G>A	uc002uqi.1	-	2	451	c.180C>T	c.(178-180)ATC>ATT	p.I60I		NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	60											0			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)															---	---	---	---	capture		Silent	SNP	189599468	189599468	4712	2	G	A	A	45	45	DIRC1	A	2	2
RAPH1	65059	broad.mit.edu	37	2	204305807	204305807	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204305807C>A	uc002vad.2	-	14	2331	c.2106G>T	c.(2104-2106)CTG>CTT	p.L702L		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	702					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10																		---	---	---	---	capture		Silent	SNP	204305807	204305807	13510	2	C	A	A	21	21	RAPH1	A	2	2
MAP2	4133	broad.mit.edu	37	2	210559534	210559534	+	Silent	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210559534A>G	uc002vde.1	+	7	2888	c.2640A>G	c.(2638-2640)CCA>CCG	p.P880P	MAP2_uc002vdc.1_Silent_p.P880P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P876P	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	880					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---	capture		Silent	SNP	210559534	210559534	9618	2	A	G	G	8	8	MAP2	G	4	4
TNS1	7145	broad.mit.edu	37	2	218682908	218682908	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218682908G>T	uc002vgt.2	-	24	4233	c.3835C>A	c.(3835-3837)CAC>AAC	p.H1279N	TNS1_uc002vgr.2_Missense_Mutation_p.H1266N|TNS1_uc002vgs.2_Missense_Mutation_p.H1258N|TNS1_uc010zjv.1_Missense_Mutation_p.H1258N	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1279						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---	capture		Missense_Mutation	SNP	218682908	218682908	16884	2	G	T	T	45	45	TNS1	T	2	2
TTLL4	9654	broad.mit.edu	37	2	219611756	219611756	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219611756G>T	uc002viy.2	+	9	2375	c.2005G>T	c.(2005-2007)GGG>TGG	p.G669W	TTLL4_uc010zkl.1_Missense_Mutation_p.G504W|TTLL4_uc010fvx.2_Intron|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	669	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)														---	---	---	---	capture		Missense_Mutation	SNP	219611756	219611756	17284	2	G	T	T	47	47	TTLL4	T	2	2
PRKAG3	53632	broad.mit.edu	37	2	219688495	219688495	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219688495A>T	uc002vjb.1	-	13	1479	c.1460T>A	c.(1459-1461)CTC>CAC	p.L487H		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	487				ALGA -> PSGPEKI (in Ref. 1; CAB65117).	cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219688495	219688495	12945	2	A	T	T	11	11	PRKAG3	T	4	4
CCDC108	255101	broad.mit.edu	37	2	219878615	219878615	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219878615C>G	uc002vjl.1	-	22	3838	c.3754G>C	c.(3754-3756)GAG>CAG	p.E1252Q		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1252						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	219878615	219878615	2863	2	C	G	G	30	30	CCDC108	G	3	3
TUBA4A	7277	broad.mit.edu	37	2	220115077	220115077	+	Silent	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220115077T>C	uc002vkt.1	-	4	1402	c.1344A>G	c.(1342-1344)GAA>GAG	p.E448E	TUBA4A_uc010zkz.1_Silent_p.E433E|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	448					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Silent	SNP	220115077	220115077	17304	2	T	C	C	52	52	TUBA4A	C	4	4
PAX3	5077	broad.mit.edu	37	2	223066140	223066140	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223066140G>T	uc002vmt.1	-	9	1808	c.1442C>A	c.(1441-1443)CCA>CAA	p.P481Q	PAX3_uc002vmy.1_Missense_Mutation_p.P480Q|PAX3_uc002vmv.1_Missense_Mutation_p.P481Q|PAX3_uc002vmw.1_Missense_Mutation_p.Q399K|PAX3_uc002vmx.1_Missense_Mutation_p.Q399K	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	Error:Variant_position_missing_in_P23760_after_alignment					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)				T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						---	---	---	---	capture		Missense_Mutation	SNP	223066140	223066140	11900	2	G	T	T	47	47	PAX3	T	2	2
KIAA1486	57624	broad.mit.edu	37	2	226446968	226446968	+	Missense_Mutation	SNP	T	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226446968T>G	uc002voe.2	+	4	1010	c.835T>G	c.(835-837)TTG>GTG	p.L279V	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.L49V	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	279										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)														---	---	---	---	capture		Missense_Mutation	SNP	226446968	226446968	8546	2	T	G	G	56	56	KIAA1486	G	4	4
TRIP12	9320	broad.mit.edu	37	2	230678991	230678991	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230678991C>A	uc002vpw.1	-	11	1747	c.1638G>T	c.(1636-1638)TTG>TTT	p.L546F	TRIP12_uc002vpx.1_Missense_Mutation_p.L594F|TRIP12_uc002vpy.1_Missense_Mutation_p.L249F|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.L552F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	546					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)														---	---	---	---	capture		Missense_Mutation	SNP	230678991	230678991	17106	2	C	A	A	21	21	TRIP12	A	2	2
SP100	6672	broad.mit.edu	37	2	231404037	231404037	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231404037G>T	uc002vqu.1	+	25	2291	c.2150G>T	c.(2149-2151)TGC>TTC	p.C717F	SP100_uc010fxp.1_Missense_Mutation_p.C35F	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	Error:Variant_position_missing_in_P23497_after_alignment					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	231404037	231404037	15460	2	G	T	T	46	46	SP100	T	2	2
DGKD	8527	broad.mit.edu	37	2	234356821	234356821	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234356821C>A	uc002vui.1	+	13	1520	c.1508C>A	c.(1507-1509)TCG>TAG	p.S503*	DGKD_uc002vuj.1_Nonsense_Mutation_p.S459*|DGKD_uc010fyh.1_Nonsense_Mutation_p.S370*|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	503					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---	capture		Nonsense_Mutation	SNP	234356821	234356821	4646	2	C	A	A	31	31	DGKD	A	5	1
ASB18	401036	broad.mit.edu	37	2	237172907	237172907	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237172907C>G	uc010znh.1	-	1	82	c.82G>C	c.(82-84)GAT>CAT	p.D28H		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	28					intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	237172907	237172907	1040	2	C	G	G	32	32	ASB18	G	3	3
PASK	23178	broad.mit.edu	37	2	242066669	242066669	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242066669G>T	uc002wao.1	-	10	1753	c.1661C>A	c.(1660-1662)CCA>CAA	p.P554Q	PASK_uc010zol.1_Missense_Mutation_p.P368Q|PASK_uc010zom.1_Missense_Mutation_p.P519Q|PASK_uc010fzl.1_Missense_Mutation_p.P554Q|PASK_uc010zon.1_Missense_Mutation_p.P335Q|PASK_uc002wap.2_Missense_Mutation_p.P97Q|PASK_uc002waq.2_Missense_Mutation_p.P554Q	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	554					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)														---	---	---	---	capture		Missense_Mutation	SNP	242066669	242066669	11889	2	G	T	T	47	47	PASK	T	2	2
ESF1	51575	broad.mit.edu	37	20	13756704	13756704	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13756704C>A	uc002woj.2	-	3	958	c.850G>T	c.(850-852)GAG>TAG	p.E284*	ESF1_uc002wok.1_Nonsense_Mutation_p.E284*	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	284	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	13756704	13756704	5444	20	C	A	A	30	30	ESF1	A	5	2
PCSK2	5126	broad.mit.edu	37	20	17208026	17208026	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17208026G>C	uc002wpm.2	+	1	396	c.76G>C	c.(76-78)GAG>CAG	p.E26Q	PCSK2_uc002wpl.2_Missense_Mutation_p.E7Q|PCSK2_uc010zrm.1_Missense_Mutation_p.E26Q	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	26					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Missense_Mutation	SNP	17208026	17208026	12022	20	G	C	C	45	45	PCSK2	C	3	3
PCSK2	5126	broad.mit.edu	37	20	17462420	17462420	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17462420G>T	uc002wpm.2	+	12	1942	c.1622G>T	c.(1621-1623)AGG>ATG	p.R541M	PCSK2_uc002wpl.2_Missense_Mutation_p.R522M|PCSK2_uc010zrm.1_Missense_Mutation_p.R506M|PCSK2_uc002wpn.2_Missense_Mutation_p.R195M	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	541					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Missense_Mutation	SNP	17462420	17462420	12022	20	G	T	T	35	35	PCSK2	T	2	2
SUN5	140732	broad.mit.edu	37	20	31577469	31577469	+	Missense_Mutation	SNP	G	T	T	rs150666576		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31577469G>T	uc002wyi.2	-	9	663	c.570C>A	c.(568-570)CAC>CAA	p.H190Q		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	190					spermatogenesis					skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	31577469	31577469	15914	20	G	T	T	40	40	SUN5	T	1	1
CDK5RAP1	51654	broad.mit.edu	37	20	31967387	31967387	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31967387G>T	uc010gek.2	-	9	1153	c.1029C>A	c.(1027-1029)ACC>ACA	p.T343T	CDK5RAP1_uc002wyy.2_Silent_p.T239T|CDK5RAP1_uc002wyz.2_Silent_p.T329T|CDK5RAP1_uc002wza.2_Silent_p.T329T|CDK5RAP1_uc010gel.2_Silent_p.T238T|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Silent_p.T329T	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	343					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	31967387	31967387	3274	20	G	T	T	47	47	CDK5RAP1	T	2	2
PHF20	51230	broad.mit.edu	37	20	34459591	34459591	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34459591G>T	uc002xek.1	+	9	1233	c.1122G>T	c.(1120-1122)TTG>TTT	p.L374F	PHF20_uc002xei.1_Missense_Mutation_p.L374F|PHF20_uc010gfo.1_Missense_Mutation_p.L374F|PHF20_uc002xej.1_Missense_Mutation_p.L258F	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)																	---	---	---	---	capture		Missense_Mutation	SNP	34459591	34459591	12254	20	G	T	T	47	47	PHF20	T	2	2
C20orf24	55969	broad.mit.edu	37	20	35240420	35240420	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35240420G>T	uc002xfq.2	+	4	544	c.356G>T	c.(355-357)TGG>TTG	p.W119L	C20orf24_uc002xfo.2_Missense_Mutation_p.W145L|C20orf24_uc002xfp.2_3'UTR|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Nonsense_Mutation_p.G76*|C20orf24_uc002xfs.2_Missense_Mutation_p.L128F	NM_018840	NP_061328	Q9BUV8	CT024_HUMAN	RAB5-interacting protein isoform a	119				LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSH PYSMMVSDSK (in Ref. 6; AAB50849).			protein binding				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	35240420	35240420	2185	20	G	T	T	47	47	C20orf24	T	2	2
C20orf117	140710	broad.mit.edu	37	20	35443568	35443568	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35443568C>A	uc002xgd.1	-	5	1890	c.1563G>T	c.(1561-1563)AAG>AAT	p.K521N	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	521											0		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Missense_Mutation	SNP	35443568	35443568	2159	20	C	A	A	24	24	C20orf117	A	2	2
SEMG2	6407	broad.mit.edu	37	20	43851673	43851673	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43851673C>A	uc010ggz.2	+	2	1457	c.1400C>A	c.(1399-1401)TCA>TAA	p.S467*	SEMG2_uc002xnk.2_Nonsense_Mutation_p.S467*|SEMG2_uc002xnl.2_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	467	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Nonsense_Mutation	SNP	43851673	43851673	14531	20	C	A	A	29	29	SEMG2	A	5	2
ZSWIM3	140831	broad.mit.edu	37	20	44505923	44505923	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44505923G>T	uc002xqd.2	+	2	929	c.726G>T	c.(724-726)AAG>AAT	p.K242N	ZSWIM3_uc010zxg.1_Missense_Mutation_p.K236N	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	242							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Missense_Mutation	SNP	44505923	44505923	18846	20	G	T	T	35	35	ZSWIM3	T	2	2
ZNF335	63925	broad.mit.edu	37	20	44586512	44586512	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44586512G>C	uc002xqw.2	-	16	2432	c.2309C>G	c.(2308-2310)TCT>TGT	p.S770C	ZNF335_uc010zxk.1_Missense_Mutation_p.S615C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Missense_Mutation	SNP	44586512	44586512	18444	20	G	C	C	33	33	ZNF335	C	3	3
SLC13A3	64849	broad.mit.edu	37	20	45192078	45192078	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45192078G>T	uc002xsf.1	-	12	1645	c.1607C>A	c.(1606-1608)TCT>TAT	p.S536Y	SLC13A3_uc010ghn.1_Missense_Mutation_p.S505Y|SLC13A3_uc010zxw.1_Missense_Mutation_p.S486Y|SLC13A3_uc002xsg.1_Missense_Mutation_p.S489Y|SLC13A3_uc010gho.1_Missense_Mutation_p.S454Y|SLC13A3_uc010zxx.1_Missense_Mutation_p.S438Y|SLC13A3_uc002xse.1_Missense_Mutation_p.S27Y|SLC13A3_uc010ghm.1_Missense_Mutation_p.S123Y|SLC13A3_uc010zxv.1_Missense_Mutation_p.S121Y	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	536	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)													---	---	---	---	capture		Missense_Mutation	SNP	45192078	45192078	14888	20	G	T	T	33	33	SLC13A3	T	2	2
KCNG1	3755	broad.mit.edu	37	20	49626715	49626715	+	Missense_Mutation	SNP	T	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49626715T>A	uc002xwa.3	-	2	456	c.161A>T	c.(160-162)CAG>CTG	p.Q54L	KCNG1_uc002xwb.2_Missense_Mutation_p.Q54L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	54	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	49626715	49626715	8332	20	T	A	A	55	55	KCNG1	A	4	4
SALL4	57167	broad.mit.edu	37	20	50408873	50408873	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50408873G>T	uc002xwh.3	-	2	250	c.149C>A	c.(148-150)CCA>CAA	p.P50Q	SALL4_uc010gii.2_Missense_Mutation_p.P50Q|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	50					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	50408873	50408873	14293	20	G	T	T	47	47	SALL4	T	2	2
RAE1	8480	broad.mit.edu	37	20	55953067	55953067	+	Splice_Site	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55953067A>G	uc002xyg.2	+	12	1362	c.1021_splice	c.e12-2	p.G341_splice	RAE1_uc002xyh.2_Splice_Site_p.G341_splice|RAE1_uc002xyi.2_Splice_Site_p.G341_splice	NM_003610	NP_003601			RAE1 (RNA export 1, S.pombe) homolog						carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)															---	---	---	---	capture		Splice_Site	SNP	55953067	55953067	13458	20	A	G	G	15	15	RAE1	G	5	4
PHACTR3	116154	broad.mit.edu	37	20	58322835	58322835	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58322835C>A	uc002yau.2	+	3	770	c.303C>A	c.(301-303)GGC>GGA	p.G101G	PHACTR3_uc002yat.2_Silent_p.G98G|PHACTR3_uc010zzw.1_Silent_p.G60G|PHACTR3_uc002yav.2_Silent_p.G60G|PHACTR3_uc002yaw.2_Silent_p.G60G|PHACTR3_uc002yax.2_Silent_p.G60G	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	101	RPEL 1.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)															---	---	---	---	capture		Silent	SNP	58322835	58322835	12234	20	C	A	A	25	25	PHACTR3	A	2	2
TAF4	6874	broad.mit.edu	37	20	60582658	60582658	+	Missense_Mutation	SNP	C	A	A	rs149456775		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60582658C>A	uc002ybs.2	-	6	1919	c.1919G>T	c.(1918-1920)AGG>ATG	p.R640M		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	640	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)															---	---	---	---	capture		Missense_Mutation	SNP	60582658	60582658	16047	20	C	A	A	24	24	TAF4	A	2	2
LIPI	149998	broad.mit.edu	37	21	15537643	15537643	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15537643A>T	uc002yjm.2	-	6	875	c.865T>A	c.(865-867)TGC>AGC	p.C289S	LIPI_uc010gkw.1_Missense_Mutation_p.C192S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	268					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	15537643	15537643	9152	21	A	T	T	7	7	LIPI	T	4	4
KRTAP11-1	337880	broad.mit.edu	37	21	32253502	32253502	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32253502C>A	uc002yov.2	-	1	373	c.342G>T	c.(340-342)CTG>CTT	p.L114L		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	114	4 X 10 AA approximate repeats.|1.					keratin filament	structural molecule activity			pancreas(1)	1																		---	---	---	---	capture		Silent	SNP	32253502	32253502	8832	21	C	A	A	21	21	KRTAP11-1	A	2	2
GART	2618	broad.mit.edu	37	21	34889330	34889330	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34889330G>T	uc002yrx.2	-	16	2208	c.2073C>A	c.(2071-2073)CCC>CCA	p.P691P	GART_uc002yrz.2_Silent_p.P691P|GART_uc010gmd.2_Silent_p.P353P|GART_uc002yry.2_Silent_p.P691P	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	691	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---	capture		Silent	SNP	34889330	34889330	6507	21	G	T	T	47	47	GART	T	2	2
RUNX1	861	broad.mit.edu	37	21	36252918	36252918	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36252918G>A	uc002yuh.2	-	2	1941	c.363C>T	c.(361-363)ACC>ACT	p.T121T	RUNX1_uc002yui.2_Silent_p.T121T|RUNX1_uc010gmu.2_Silent_p.T148T|RUNX1_uc010gmv.2_Silent_p.T148T|RUNX1_uc002yuj.3_Silent_p.T16T|RUNX1_uc002yuk.3_Silent_p.T148T|RUNX1_uc002yum.1_Silent_p.T16T|RUNX1_uc010gmw.1_Silent_p.T148T|RUNX1_uc002yuo.1_Silent_p.T121T|RUNX1_uc002yur.1_Silent_p.T16T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	121	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L121fs*2(1)|p.A149fs*2(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387								T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				---	---	---	---	capture		Silent	SNP	36252918	36252918	14226	21	G	A	A	39	39	RUNX1	A	1	1
SETD4	54093	broad.mit.edu	37	21	37425886	37425886	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37425886G>T	uc002yuw.1	-	3	1575	c.202C>A	c.(202-204)CTG>ATG	p.L68M	SETD4_uc002yux.1_Missense_Mutation_p.L44M|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.L68M|SETD4_uc002yuy.2_Missense_Mutation_p.L68M|SETD4_uc002yuz.2_Missense_Mutation_p.L44M|SETD4_uc002yva.2_Missense_Mutation_p.L44M	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	68	SET.									large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	37425886	37425886	14622	21	G	T	T	35	35	SETD4	T	2	2
CCT8L2	150160	broad.mit.edu	37	22	17072852	17072852	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17072852T>C	uc002zlp.1	-	1	849	c.589A>G	c.(589-591)AGC>GGC	p.S197G		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	197					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	17072852	17072852	3088	22	T	C	C	55	55	CCT8L2	C	4	4
CDC45	8318	broad.mit.edu	37	22	19470309	19470309	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19470309C>A	uc002zpr.2	+	4	377	c.301C>A	c.(301-303)CAT>AAT	p.H101N	CDC45_uc011agz.1_Missense_Mutation_p.H96N|CDC45_uc011aha.1_Missense_Mutation_p.H101N|CDC45_uc002zps.2_Missense_Mutation_p.H101N|CDC45_uc002zpt.2_Intron	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	101					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19470309	19470309	3210	22	C	A	A	21	21	CDC45	A	2	2
CABIN1	23523	broad.mit.edu	37	22	24492010	24492010	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24492010G>T	uc002zzi.1	+	25	4030	c.3903G>T	c.(3901-3903)AGG>AGT	p.R1301S	CABIN1_uc002zzj.1_Missense_Mutation_p.R1251S|CABIN1_uc002zzl.1_Missense_Mutation_p.R1301S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1301					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	24492010	24492010	2644	22	G	T	T	43	43	CABIN1	T	2	2
CABIN1	23523	broad.mit.edu	37	22	24509667	24509667	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24509667C>A	uc002zzi.1	+	27	4379	c.4252C>A	c.(4252-4254)CAA>AAA	p.Q1418K	CABIN1_uc002zzj.1_Missense_Mutation_p.Q1339K|CABIN1_uc002zzl.1_Missense_Mutation_p.Q1418K	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1418					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	24509667	24509667	2644	22	C	A	A	21	21	CABIN1	A	2	2
CCDC157	550631	broad.mit.edu	37	22	30766331	30766331	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30766331G>T	uc011aku.1	+	5	1097	c.437G>T	c.(436-438)AGG>ATG	p.R146M	CCDC157_uc011akv.1_Missense_Mutation_p.R146M	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	146										central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30766331	30766331	2911	22	G	T	T	35	35	CCDC157	T	2	2
PATZ1	23598	broad.mit.edu	37	22	31723139	31723139	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									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
RFPL2	10739	broad.mit.edu	37	22	32598391	32598391	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32598391G>T	uc003amg.3	-	2	984	c.48C>A	c.(46-48)TCC>TCA	p.S16S	RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	16							zinc ion binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	32598391	32598391	13725	22	G	T	T	47	47	RFPL2	T	2	2
C22orf28	51493	broad.mit.edu	37	22	32795633	32795633	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32795633G>T	uc003amm.2	-	6	742	c.611C>A	c.(610-612)CCC>CAC	p.P204H	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	204					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	32795633	32795633	2221	22	G	T	T	43	43	C22orf28	T	2	2
CARD10	29775	broad.mit.edu	37	22	37891906	37891906	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37891906G>T	uc003asx.1	-	14	2167	c.2164C>A	c.(2164-2166)CAT>AAT	p.H722N	CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.H40N|CARD10_uc003asw.1_Missense_Mutation_p.H436N|CARD10_uc003asy.1_Missense_Mutation_p.H722N	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	722					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)																	---	---	---	---	capture		Missense_Mutation	SNP	37891906	37891906	2763	22	G	T	T	47	47	CARD10	T	2	2
EIF3L	51386	broad.mit.edu	37	22	38247364	38247364	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38247364A>G	uc003auf.2	+	3	247	c.160A>G	c.(160-162)AAC>GAC	p.N54D	EIF3L_uc003aue.1_Missense_Mutation_p.N54D|EIF3L_uc011ann.1_Missense_Mutation_p.N54D|EIF3L_uc003aug.2_5'UTR	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	54						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38247364	38247364	5213	22	A	G	G	1	1	EIF3L	G	4	4
L3MBTL2	83746	broad.mit.edu	37	22	41613159	41613159	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41613159C>A	uc003azo.2	+	5	607	c.553C>A	c.(553-555)CTG>ATG	p.L185M	L3MBTL2_uc010gyi.1_Missense_Mutation_p.L94M|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	185	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	41613159	41613159	8915	22	C	A	A	24	24	L3MBTL2	A	2	2
CYP2D6	1565	broad.mit.edu	37	22	42524814	42524814	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42524814A>G	uc003bce.2	-	4	728	c.638T>C	c.(637-639)CTG>CCG	p.L213P	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Missense_Mutation_p.L162P	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	213							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	42524814	42524814	4334	22	A	G	G	7	7	CYP2D6	G	4	4
TCF20	6942	broad.mit.edu	37	22	42606931	42606931	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42606931G>T	uc003bcj.1	-	1	4515	c.4381C>A	c.(4381-4383)CCT>ACT	p.P1461T	TCF20_uc003bck.1_Missense_Mutation_p.P1461T|TCF20_uc003bnt.2_Missense_Mutation_p.P1461T	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	42606931	42606931	16216	22	G	T	T	43	43	TCF20	T	2	2
SERHL2	253190	broad.mit.edu	37	22	42968452	42968452	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42968452G>T	uc003bcr.2	+	11	844	c.742G>T	c.(742-744)GGA>TGA	p.G248*	SERHL_uc011apm.1_3'UTR|SERHL2_uc010gyz.2_Nonsense_Mutation_p.G184*|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	248						perinuclear region of cytoplasm|peroxisome	hydrolase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	42968452	42968452	14566	22	G	T	T	39	39	SERHL2	T	5	1
PKDREJ	10343	broad.mit.edu	37	22	46658214	46658214	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46658214G>T	uc003bhh.2	-	1	1006	c.1006C>A	c.(1006-1008)CTG>ATG	p.L336M		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	336	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---	capture		Missense_Mutation	SNP	46658214	46658214	12395	22	G	T	T	35	35	PKDREJ	T	2	2
ZBED4	9889	broad.mit.edu	37	22	50277561	50277561	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50277561G>T	uc003bix.2	+	2	721	c.251G>T	c.(250-252)GGC>GTC	p.G84V		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	84						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	50277561	50277561	18104	22	G	T	T	42	42	ZBED4	T	2	2
ATP2B2	491	broad.mit.edu	37	3	10382333	10382333	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10382333G>T	uc003bvt.2	-	20	3412	c.2973C>A	c.(2971-2973)CCC>CCA	p.P991P	ATP2B2_uc003bvv.2_Silent_p.P946P|ATP2B2_uc003bvw.2_Silent_p.P946P|ATP2B2_uc010hdo.2_Silent_p.P696P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	991	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---	capture		Silent	SNP	10382333	10382333	1159	3	G	T	T	35	35	ATP2B2	T	2	2
GADL1	339896	broad.mit.edu	37	3	30842474	30842474	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30842474C>T	uc003cep.2	-	12	1204	c.1157G>A	c.(1156-1158)AGA>AAA	p.R386K	GADL1_uc003ceq.1_Missense_Mutation_p.R386K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	386					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	30842474	30842474	6436	3	C	T	T	32	32	GADL1	T	2	2
DYNC1LI1	51143	broad.mit.edu	37	3	32574570	32574570	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32574570C>G	uc003cfb.3	-	8	1076	c.988G>C	c.(988-990)GAT>CAT	p.D330H	DYNC1LI1_uc011axh.1_Missense_Mutation_p.D214H	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	330					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32574570	32574570	5030	3	C	G	G	29	29	DYNC1LI1	G	3	3
ITGA9	3680	broad.mit.edu	37	3	37560822	37560822	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37560822G>T	uc003chd.2	+	11	1266	c.1213G>T	c.(1213-1215)GGG>TGG	p.G405W	ITGA9_uc003chc.2_Missense_Mutation_p.G405W	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	405	Extracellular (Potential).|FG-GAP 6.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---	capture		Missense_Mutation	SNP	37560822	37560822	8187	3	G	T	T	47	47	ITGA9	T	2	2
VILL	50853	broad.mit.edu	37	3	38048469	38048469	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38048469G>T	uc003chj.2	+	20	2780	c.2494G>T	c.(2494-2496)GGG>TGG	p.G832W	VILL_uc003chl.2_Missense_Mutation_p.G832W	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	832	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---	capture		Missense_Mutation	SNP	38048469	38048469	17732	3	G	T	T	47	47	VILL	T	2	2
CX3CR1	1524	broad.mit.edu	37	3	39306949	39306949	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39306949G>A	uc003cjl.2	-	2	1144	c.1052C>T	c.(1051-1053)GCA>GTA	p.A351V		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	351	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)														---	---	---	---	capture		Missense_Mutation	SNP	39306949	39306949	4235	3	G	A	A	46	46	CX3CR1	A	2	2
KIF15	56992	broad.mit.edu	37	3	44816877	44816877	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44816877C>A	uc003cnx.3	+	3	343	c.194C>A	c.(193-195)CCT>CAT	p.P65H	KIF15_uc010hiq.2_Translation_Start_Site	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	65	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---	capture		Missense_Mutation	SNP	44816877	44816877	8588	3	C	A	A	24	24	KIF15	A	2	2
LRRC2	79442	broad.mit.edu	37	3	46593032	46593032	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46593032C>A	uc010hji.2	-	2	414	c.50G>T	c.(49-51)TGG>TTG	p.W17L	LRRC2_uc003cpu.3_Missense_Mutation_p.W17L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	17										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---	capture		Missense_Mutation	SNP	46593032	46593032	9350	3	C	A	A	21	21	LRRC2	A	2	2
COL7A1	1294	broad.mit.edu	37	3	48623575	48623575	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48623575C>A	uc003ctz.2	-	27	3656	c.3655G>T	c.(3655-3657)GGG>TGG	p.G1219W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1219	Nonhelical region (NC1).|VWFA 2.				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	48623575	48623575	3842	3	C	A	A	21	21	COL7A1	A	2	2
DOCK3	1795	broad.mit.edu	37	3	51400047	51400047	+	Silent	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51400047G>C	uc011bds.1	+	49	5258	c.5235G>C	c.(5233-5235)CTG>CTC	p.L1745L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1745	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---	capture		Silent	SNP	51400047	51400047	4872	3	G	C	C	45	45	DOCK3	C	3	3
IL17RB	55540	broad.mit.edu	37	3	53883774	53883774	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53883774G>T	uc003dha.2	+	3	217	c.178G>T	c.(178-180)GGG>TGG	p.G60W		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	60	Extracellular (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				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)														---	---	---	---	capture		Missense_Mutation	SNP	53883774	53883774	7941	3	G	T	T	35	35	IL17RB	T	2	2
ADAMTS9	56999	broad.mit.edu	37	3	64547286	64547286	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64547286G>T	uc003dmg.2	-	30	4698	c.4666C>A	c.(4666-4668)CTC>ATC	p.L1556I	ADAMTS9_uc011bfo.1_Missense_Mutation_p.L1528I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L1385I|ADAMTS9_uc011bfp.1_Missense_Mutation_p.L467I|uc003dmi.1_5'Flank	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1556	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---	capture		Missense_Mutation	SNP	64547286	64547286	274	3	G	T	T	35	35	ADAMTS9	T	2	2
RPL24	6152	broad.mit.edu	37	3	101400000	101400000	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101400000G>T	uc003dvh.1	-	6	496	c.453C>A	c.(451-453)CCC>CCA	p.P151P	RPL24_uc003dvi.1_3'UTR	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	151					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---	capture		Silent	SNP	101400000	101400000	14051	3	G	T	T	43	43	RPL24	T	2	2
KIAA1524	57650	broad.mit.edu	37	3	108279628	108279628	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108279628G>T	uc003dxb.3	-	14	1964	c.1695C>A	c.(1693-1695)CCC>CCA	p.P565P	KIAA1524_uc010hpv.1_3'UTR	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	565						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	108279628	108279628	8548	3	G	T	T	47	47	KIAA1524	T	2	2
CCDC80	151887	broad.mit.edu	37	3	112356929	112356929	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112356929G>T	uc003dzf.2	-	2	2042	c.1824C>A	c.(1822-1824)CCC>CCA	p.P608P	CCDC80_uc011bhv.1_Silent_p.P608P|CCDC80_uc003dzg.2_Silent_p.P608P|CCDC80_uc003dzh.1_Silent_p.P608P	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	608	Lys-rich.									ovary(2)	2																		---	---	---	---	capture		Silent	SNP	112356929	112356929	2978	3	G	T	T	47	47	CCDC80	T	2	2
WDR52	55779	broad.mit.edu	37	3	113135375	113135375	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113135375G>T	uc003eae.1	-	6	716	c.670C>A	c.(670-672)CGA>AGA	p.R224R		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	224										central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	113135375	113135375	17877	3	G	T	T	37	37	WDR52	T	1	1
ZNF80	7634	broad.mit.edu	37	3	113955552	113955552	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113955552G>C	uc010hqo.2	-	1	874	c.370C>G	c.(370-372)CGC>GGC	p.R124G	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	124	C2H2-type 3; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)																---	---	---	---	capture		Missense_Mutation	SNP	113955552	113955552	18766	3	G	C	C	39	39	ZNF80	C	3	3
NR1I2	8856	broad.mit.edu	37	3	119530414	119530414	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119530414G>C	uc003edj.2	+	4	2199	c.360G>C	c.(358-360)GAG>GAC	p.E120D	NR1I2_uc003edi.2_Missense_Mutation_p.E120D|NR1I2_uc003edk.2_Missense_Mutation_p.E159D|NR1I2_uc003edl.2_Missense_Mutation_p.E8D	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	120	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	119530414	119530414	11025	3	G	C	C	33	33	NR1I2	C	3	3
STXBP5L	9515	broad.mit.edu	37	3	120876471	120876471	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120876471C>G	uc003eec.3	+	9	1014	c.874C>G	c.(874-876)CAT>GAT	p.H292D	STXBP5L_uc011bji.1_Missense_Mutation_p.H292D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	292					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---	capture		Missense_Mutation	SNP	120876471	120876471	15877	3	C	G	G	17	17	STXBP5L	G	3	3
POLQ	10721	broad.mit.edu	37	3	121238840	121238840	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121238840C>A	uc003eee.3	-	9	1475	c.1346G>T	c.(1345-1347)GGG>GTG	p.G449V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	449	Helicase C-terminal.				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	121238840	121238840	12636	3	C	A	A	22	22	POLQ	A	2	2
PARP14	54625	broad.mit.edu	37	3	122447289	122447289	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122447289G>T	uc003efq.3	+	17	5310	c.5251G>T	c.(5251-5253)GGA>TGA	p.G1751*	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.G1468*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1751	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---	capture		Nonsense_Mutation	SNP	122447289	122447289	11875	3	G	T	T	47	47	PARP14	T	5	2
PIK3R4	30849	broad.mit.edu	37	3	130463401	130463401	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130463401G>A	uc003enj.2	-	2	1243	c.662C>T	c.(661-663)CCG>CTG	p.P221L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	221	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	130463401	130463401	12345	3	G	A	A	39	39	PIK3R4	A	1	1
MRPL3	11222	broad.mit.edu	37	3	131220414	131220414	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131220414G>T	uc003eoh.2	-	2	402	c.238C>A	c.(238-240)CTG>ATG	p.L80M	MRPL3_uc011blo.1_Translation_Start_Site|MRPL3_uc011blp.1_Missense_Mutation_p.L107M	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	80					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0																		---	---	---	---	capture		Missense_Mutation	SNP	131220414	131220414	10186	3	G	T	T	33	33	MRPL3	T	2	2
DNAJC13	23317	broad.mit.edu	37	3	132185186	132185186	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132185186C>A	uc003eor.2	+	19	2077	c.2012C>A	c.(2011-2013)CCT>CAT	p.P671H	DNAJC13_uc010htq.1_Missense_Mutation_p.P671H	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	671							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	132185186	132185186	4815	3	C	A	A	24	24	DNAJC13	A	2	2
TF	7018	broad.mit.edu	37	3	133478162	133478162	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133478162G>T	uc003epu.1	+	14	2920	c.1192G>T	c.(1192-1194)GCC>TCC	p.A398S	TF_uc011blt.1_Missense_Mutation_p.A271S|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A398S	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	398	Transferrin-like 2.				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	133478162	133478162	16313	3	G	T	T	38	38	TF	T	1	1
SLCO2A1	6578	broad.mit.edu	37	3	133666218	133666218	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133666218A>G	uc003eqa.3	-	9	1451	c.1177T>C	c.(1177-1179)TCT>CCT	p.S393P	SLCO2A1_uc003eqb.3_Missense_Mutation_p.S317P|SLCO2A1_uc011blv.1_Missense_Mutation_p.S212P	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	393	Helical; Name=9; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	133666218	133666218	15223	3	A	G	G	11	11	SLCO2A1	G	4	4
MSL2	55167	broad.mit.edu	37	3	135870092	135870092	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135870092C>A	uc003eqx.1	-	2	2364	c.1631G>T	c.(1630-1632)AGT>ATT	p.S544I	MSL2_uc011bmb.1_Missense_Mutation_p.S470I	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	544					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	135870092	135870092	10271	3	C	A	A	20	20	MSL2	A	2	2
A4GNT	51146	broad.mit.edu	37	3	137843236	137843236	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137843236C>T	uc003ers.2	-	3	1095	c.893G>A	c.(892-894)CGG>CAG	p.R298Q		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	298	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	137843236	137843236	8	3	C	T	T	23	23	A4GNT	T	1	1
ESYT3	83850	broad.mit.edu	37	3	138183263	138183263	+	Nonsense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138183263C>G	uc003esk.2	+	9	1218	c.992C>G	c.(991-993)TCA>TGA	p.S331*	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	331	C2 1.					integral to membrane|plasma membrane					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	138183263	138183263	5459	3	C	G	G	29	29	ESYT3	G	5	3
ZBTB38	253461	broad.mit.edu	37	3	141163129	141163129	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141163129G>T	uc003etw.2	+	8	2881	c.1899G>T	c.(1897-1899)TTG>TTT	p.L633F	ZBTB38_uc010hun.2_Missense_Mutation_p.L630F|ZBTB38_uc010huo.2_Missense_Mutation_p.L633F|ZBTB38_uc003ety.2_Missense_Mutation_p.L633F|ZBTB38_uc010hup.2_Missense_Mutation_p.L634F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	633					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	141163129	141163129	18125	3	G	T	T	47	47	ZBTB38	T	2	2
XRN1	54464	broad.mit.edu	37	3	142116193	142116193	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142116193C>G	uc003eus.2	-	20	2384	c.2317G>C	c.(2317-2319)GAA>CAA	p.E773Q	XRN1_uc010huu.2_Missense_Mutation_p.E239Q|XRN1_uc003eut.2_Missense_Mutation_p.E773Q|XRN1_uc003euu.2_Missense_Mutation_p.E773Q|XRN1_uc003euv.1_Missense_Mutation_p.E634Q	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	773					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	142116193	142116193	18042	3	C	G	G	32	32	XRN1	G	3	3
CLRN1	7401	broad.mit.edu	37	3	150690432	150690432	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150690432G>T	uc003eyk.1	-	1	355	c.64C>A	c.(64-66)CTC>ATC	p.L22I	CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	22	Helical; (Potential).				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---	capture		Missense_Mutation	SNP	150690432	150690432	3695	3	G	T	T	35	35	CLRN1	T	2	2
TNIK	23043	broad.mit.edu	37	3	170811686	170811686	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170811686G>T	uc003fhh.2	-	23	3008	c.2663C>A	c.(2662-2664)TCT>TAT	p.S888Y	TNIK_uc003fhi.2_Missense_Mutation_p.S833Y|TNIK_uc003fhj.2_Missense_Mutation_p.S859Y|TNIK_uc003fhk.2_Missense_Mutation_p.S880Y|TNIK_uc003fhl.2_Missense_Mutation_p.S804Y|TNIK_uc003fhm.2_Missense_Mutation_p.S825Y|TNIK_uc003fhn.2_Missense_Mutation_p.S851Y|TNIK_uc003fho.2_Missense_Mutation_p.S796Y|TNIK_uc003fhg.2_Missense_Mutation_p.S66Y	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	888	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		Missense_Mutation	SNP	170811686	170811686	16854	3	G	T	T	33	33	TNIK	T	2	2
MRPL47	57129	broad.mit.edu	37	3	179316559	179316559	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179316559C>A	uc003fjz.2	-	4	328	c.306G>T	c.(304-306)TGG>TGT	p.W102C	MRPL47_uc003fka.2_5'UTR|MRPL47_uc003fkb.2_Missense_Mutation_p.W82C	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	102					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)															---	---	---	---	capture		Missense_Mutation	SNP	179316559	179316559	10204	3	C	A	A	18	18	MRPL47	A	2	2
KLHL24	54800	broad.mit.edu	37	3	183388846	183388846	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									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
YEATS2	55689	broad.mit.edu	37	3	183508750	183508750	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183508750G>T	uc003fly.2	+	21	3274	c.3079G>T	c.(3079-3081)GGG>TGG	p.G1027W	YEATS2_uc003flz.2_Missense_Mutation_p.G106W	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1027					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183508750	183508750	18055	3	G	T	T	47	47	YEATS2	T	2	2
YEATS2	55689	broad.mit.edu	37	3	183508768	183508768	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183508768G>T	uc003fly.2	+	21	3292	c.3097G>T	c.(3097-3099)GGA>TGA	p.G1033*	YEATS2_uc003flz.2_Missense_Mutation_p.D112Y	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1033					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Nonsense_Mutation	SNP	183508768	183508768	18055	3	G	T	T	39	39	YEATS2	T	5	1
ABCC5	10057	broad.mit.edu	37	3	183707067	183707067	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183707067C>A	uc003fmg.2	-	3	399	c.234G>T	c.(232-234)AAG>AAT	p.K78N	ABCC5_uc011bqt.1_Translation_Start_Site|ABCC5_uc010hxl.2_Missense_Mutation_p.K78N|ABCC5_uc003fmh.2_Missense_Mutation_p.K78N|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.K78N|ABCC5_uc010hxo.2_Missense_Mutation_p.K78N	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	78						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183707067	183707067	57	3	C	A	A	24	24	ABCC5	A	2	2
HTR3C	170572	broad.mit.edu	37	3	183774053	183774053	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183774053C>A	uc003fmk.2	+	4	402	c.368C>A	c.(367-369)CCA>CAA	p.P123Q		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	123	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183774053	183774053	7746	3	C	A	A	21	21	HTR3C	A	2	2
ABCF3	55324	broad.mit.edu	37	3	183905548	183905548	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183905548C>A	uc003fmz.2	+	5	578	c.445C>A	c.(445-447)CTA>ATA	p.L149I	ABCF3_uc003fna.2_Missense_Mutation_p.L143I|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	149							ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183905548	183905548	68	3	C	A	A	32	32	ABCF3	A	2	2
FAM131A	131408	broad.mit.edu	37	3	184059715	184059715	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184059715C>A	uc003fog.2	+	1	1458	c.94C>A	c.(94-96)CTT>ATT	p.L32I	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	32						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184059715	184059715	5636	3	C	A	A	24	24	FAM131A	A	2	2
FAM131A	131408	broad.mit.edu	37	3	184059839	184059839	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184059839C>A	uc003fog.2	+	1	1582	c.218C>A	c.(217-219)CCT>CAT	p.P73H	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	73						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184059839	184059839	5636	3	C	A	A	24	24	FAM131A	A	2	2
CLCN2	1181	broad.mit.edu	37	3	184069895	184069895	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184069895C>A	uc003foi.2	-	22	2445	c.2321G>T	c.(2320-2322)TGG>TTG	p.W774L	CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Missense_Mutation_p.W757L|CLCN2_uc011brl.1_Missense_Mutation_p.W774L|CLCN2_uc011brm.1_Missense_Mutation_p.W730L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	774	Cytoplasmic (By similarity).					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		Missense_Mutation	SNP	184069895	184069895	3599	3	C	A	A	21	21	CLCN2	A	2	2
TMEM207	131920	broad.mit.edu	37	3	190165606	190165606	+	Nonsense_Mutation	SNP	G	T	T	rs138370145		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190165606G>T	uc003fsj.2	-	2	153	c.86C>A	c.(85-87)TCG>TAG	p.S29*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	29						integral to membrane					0	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;0.0176)														---	---	---	---	capture		Nonsense_Mutation	SNP	190165606	190165606	16667	3	G	T	T	37	37	TMEM207	T	5	1
FGF12	2257	broad.mit.edu	37	3	191888416	191888416	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:191888416C>A	uc003fsx.2	-	4	1270	c.444G>T	c.(442-444)AAG>AAT	p.K148N	FGF12_uc003fsy.2_Missense_Mutation_p.K86N	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	148					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	191888416	191888416	6078	3	C	A	A	24	24	FGF12	A	2	2
MUC4	4585	broad.mit.edu	37	3	195517131	195517131	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195517131G>T	uc011bto.1	-	2	1780	c.1320C>A	c.(1318-1320)CCC>CCA	p.P440P	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.P322P	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	445					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---	capture		Silent	SNP	195517131	195517131	10372	3	G	T	T	47	47	MUC4	T	2	2
TM4SF19	116211	broad.mit.edu	37	3	196054319	196054319	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196054319C>A	uc003fwl.1	-	2	268	c.143G>T	c.(142-144)AGG>ATG	p.R48M	TM4SF19_uc003fwj.2_RNA|TM4SF19_uc010iad.1_Missense_Mutation_p.R48M|TM4SF19_uc011btv.1_Missense_Mutation_p.R48M	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	48	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---	capture		Missense_Mutation	SNP	196054319	196054319	16498	3	C	A	A	24	24	TM4SF19	A	2	2
MFI2	4241	broad.mit.edu	37	3	196736544	196736544	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196736544C>A	uc003fxk.3	-	11	1583	c.1470G>T	c.(1468-1470)GTG>GTT	p.V490V		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	490	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---	capture		Silent	SNP	196736544	196736544	9912	3	C	A	A	21	21	MFI2	A	2	2
LRCH3	84859	broad.mit.edu	37	3	197598238	197598238	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197598238G>T	uc011bul.1	+	19	2040	c.2035G>T	c.(2035-2037)GGA>TGA	p.G679*	LRCH3_uc003fyj.1_Nonsense_Mutation_p.G679*|LRCH3_uc011bum.1_Nonsense_Mutation_p.G627*|LRCH3_uc011bun.1_Nonsense_Mutation_p.G525*|LRCH3_uc003fyk.2_Nonsense_Mutation_p.G274*	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	679	CH.					extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)														---	---	---	---	capture		Nonsense_Mutation	SNP	197598238	197598238	9307	3	G	T	T	39	39	LRCH3	T	5	1
EVC	2121	broad.mit.edu	37	4	5733382	5733382	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5733382G>A	uc003gil.1	+	4	799	c.615G>A	c.(613-615)GAG>GAA	p.E205E	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	205					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)																---	---	---	---	capture		Silent	SNP	5733382	5733382	5478	4	G	A	A	33	33	EVC	A	2	2
SH3TC1	54436	broad.mit.edu	37	4	8226901	8226901	+	Splice_Site	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8226901G>A	uc003gkv.3	+	11	1345	c.1244_splice	c.e11-1	p.D415_splice	SH3TC1_uc003gkw.3_Splice_Site_p.D339_splice|SH3TC1_uc003gkx.3_Splice_Site	NM_018986	NP_061859			SH3 domain and tetratricopeptide repeats 1								binding			large_intestine(2)|pancreas(1)	3																		---	---	---	---	capture		Splice_Site	SNP	8226901	8226901	14753	4	G	A	A	33	33	SH3TC1	A	5	2
CLRN2	645104	broad.mit.edu	37	4	17517142	17517142	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17517142A>G	uc003gpg.1	+	1	355	c.253A>G	c.(253-255)ATC>GTC	p.I85V		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	85						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	17517142	17517142	3696	4	A	G	G	11	11	CLRN2	G	4	4
PCDH7	5099	broad.mit.edu	37	4	30723409	30723409	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30723409G>T	uc003gsk.1	+	1	1373	c.365G>T	c.(364-366)AGC>ATC	p.S122I	PCDH7_uc011bxw.1_Missense_Mutation_p.S122I|PCDH7_uc011bxx.1_Missense_Mutation_p.S122I	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	122	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30723409	30723409	11936	4	G	T	T	34	34	PCDH7	T	2	2
N4BP2	55728	broad.mit.edu	37	4	40123493	40123493	+	Silent	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40123493A>G	uc003guy.3	+	9	4100	c.3762A>G	c.(3760-3762)CTA>CTG	p.L1254L	N4BP2_uc010ifq.2_Silent_p.L1174L|N4BP2_uc010ifr.2_Silent_p.L1174L	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1254						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---	capture		Silent	SNP	40123493	40123493	10505	4	A	G	G	13	13	N4BP2	G	4	4
GABRB1	2560	broad.mit.edu	37	4	47408751	47408751	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47408751C>A	uc003gxh.2	+	8	1262	c.888C>A	c.(886-888)ACC>ACA	p.T296T	GABRB1_uc011bze.1_Silent_p.T226T	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	296					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)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---	capture		Silent	SNP	47408751	47408751	6417	4	C	A	A	22	22	GABRB1	A	2	2
CORIN	10699	broad.mit.edu	37	4	47765446	47765446	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47765446C>A	uc003gxm.2	-	4	660	c.567G>T	c.(565-567)CTG>CTT	p.L189L	CORIN_uc011bzf.1_Silent_p.L50L|CORIN_uc011bzg.1_Silent_p.L122L|CORIN_uc011bzh.1_Silent_p.L189L|CORIN_uc011bzi.1_Silent_p.L189L|CORIN_uc003gxn.3_Silent_p.L189L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	189	Extracellular (Potential).|FZ 1.				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		Silent	SNP	47765446	47765446	3890	4	C	A	A	17	17	CORIN	A	2	2
UGT2B28	54490	broad.mit.edu	37	4	70156481	70156481	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70156481C>T	uc003hej.2	+	5	1264	c.1262C>T	c.(1261-1263)TCG>TTG	p.S421L	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	421					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)													---	---	---	---	capture		Missense_Mutation	SNP	70156481	70156481	17518	4	C	T	T	31	31	UGT2B28	T	1	1
UTP3	57050	broad.mit.edu	37	4	71555257	71555257	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71555257G>T	uc003hfo.2	+	1	1062	c.863G>T	c.(862-864)AGG>ATG	p.R288M		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	288					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	71555257	71555257	17666	4	G	T	T	35	35	UTP3	T	2	2
ANKRD17	26057	broad.mit.edu	37	4	73956954	73956954	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73956954G>T	uc003hgp.2	-	29	6508	c.6391C>A	c.(6391-6393)CCG>ACG	p.P2131T	ANKRD17_uc003hgo.2_Missense_Mutation_p.P2018T|ANKRD17_uc003hgq.2_Missense_Mutation_p.P1880T|ANKRD17_uc003hgr.2_Missense_Mutation_p.P2130T	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2131					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	73956954	73956954	649	4	G	T	T	43	43	ANKRD17	T	2	2
BTC	685	broad.mit.edu	37	4	75675877	75675877	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75675877G>T	uc003hig.2	-	4	681	c.334C>A	c.(334-336)CTA>ATA	p.L112I		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	112	Extracellular (Potential).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)															---	---	---	---	capture		Missense_Mutation	SNP	75675877	75675877	1583	4	G	T	T	35	35	BTC	T	2	2
G3BP2	9908	broad.mit.edu	37	4	76582779	76582779	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76582779C>G	uc003hir.2	-	4	478	c.313G>C	c.(313-315)GAA>CAA	p.E105Q	G3BP2_uc003his.2_Missense_Mutation_p.E105Q|G3BP2_uc003hit.2_Missense_Mutation_p.E105Q	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	105	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---	capture		Missense_Mutation	SNP	76582779	76582779	6393	4	C	G	G	32	32	G3BP2	G	3	3
PPEF2	5470	broad.mit.edu	37	4	76782018	76782018	+	Missense_Mutation	SNP	C	A	A	rs148045586		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76782018C>A	uc003hix.2	-	17	2421	c.2064G>T	c.(2062-2064)ATG>ATT	p.M688I	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	688					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	76782018	76782018	12738	4	C	A	A	29	29	PPEF2	A	2	2
NAAA	27163	broad.mit.edu	37	4	76861306	76861306	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76861306G>T	uc003hjb.2	-	2	283	c.219C>A	c.(217-219)CCC>CCA	p.P73P	NAAA_uc003hja.2_Silent_p.P73P|NAAA_uc003hjc.3_Silent_p.P73P|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_5'UTR|NAAA_uc010iiz.1_Silent_p.P73P	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	73					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	76861306	76861306	10522	4	G	T	T	47	47	NAAA	T	2	2
SHROOM3	57619	broad.mit.edu	37	4	77652007	77652007	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77652007G>T	uc011cbx.1	+	4	1459	c.506G>T	c.(505-507)GGG>GTG	p.G169V	SHROOM3_uc011cbz.1_5'UTR|SHROOM3_uc003hkf.1_Missense_Mutation_p.G44V	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	169					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Missense_Mutation	SNP	77652007	77652007	14790	4	G	T	T	43	43	SHROOM3	T	2	2
SHROOM3	57619	broad.mit.edu	37	4	77661234	77661234	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77661234C>G	uc011cbx.1	+	5	2861	c.1908C>G	c.(1906-1908)GCC>GCG	p.A636A	SHROOM3_uc011cbz.1_Silent_p.A460A|SHROOM3_uc003hkf.1_Silent_p.A511A|SHROOM3_uc003hkg.2_Silent_p.A414A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	636					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Silent	SNP	77661234	77661234	14790	4	C	G	G	21	21	SHROOM3	G	3	3
SHROOM3	57619	broad.mit.edu	37	4	77661790	77661790	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77661790G>T	uc011cbx.1	+	5	3417	c.2464G>T	c.(2464-2466)GGG>TGG	p.G822W	SHROOM3_uc011cbz.1_Missense_Mutation_p.G646W|SHROOM3_uc003hkf.1_Missense_Mutation_p.G697W|SHROOM3_uc003hkg.2_Missense_Mutation_p.G600W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	822					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Missense_Mutation	SNP	77661790	77661790	14790	4	G	T	T	47	47	SHROOM3	T	2	2
SHROOM3	57619	broad.mit.edu	37	4	77661846	77661846	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77661846C>A	uc011cbx.1	+	5	3473	c.2520C>A	c.(2518-2520)CCC>CCA	p.P840P	SHROOM3_uc011cbz.1_Silent_p.P664P|SHROOM3_uc003hkf.1_Silent_p.P715P|SHROOM3_uc003hkg.2_Silent_p.P618P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	840					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Silent	SNP	77661846	77661846	14790	4	C	A	A	22	22	SHROOM3	A	2	2
SHROOM3	57619	broad.mit.edu	37	4	77661857	77661857	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77661857G>T	uc011cbx.1	+	5	3484	c.2531G>T	c.(2530-2532)GGG>GTG	p.G844V	SHROOM3_uc011cbz.1_Missense_Mutation_p.G668V|SHROOM3_uc003hkf.1_Missense_Mutation_p.G719V|SHROOM3_uc003hkg.2_Missense_Mutation_p.G622V	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	844					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Missense_Mutation	SNP	77661857	77661857	14790	4	G	T	T	43	43	SHROOM3	T	2	2
FRAS1	80144	broad.mit.edu	37	4	79410109	79410109	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79410109G>T	uc003hlb.2	+	59	9273	c.8833G>T	c.(8833-8835)GGA>TGA	p.G2945*		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2940	Calx-beta 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	79410109	79410109	6288	4	G	T	T	39	39	FRAS1	T	5	1
AFF1	4299	broad.mit.edu	37	4	88035792	88035792	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88035792C>G	uc003hqj.3	+	11	2193	c.1786C>G	c.(1786-1788)CAA>GAA	p.Q596E	AFF1_uc011ccz.1_Missense_Mutation_p.Q603E|AFF1_uc003hqk.3_Missense_Mutation_p.Q596E|AFF1_uc011cda.1_Missense_Mutation_p.Q234E	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	596						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---	capture		Missense_Mutation	SNP	88035792	88035792	357	4	C	G	G	17	17	AFF1	G	3	3
SPP1	6696	broad.mit.edu	37	4	88903701	88903701	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88903701G>A	uc003hra.2	+	7	763	c.598G>A	c.(598-600)GGT>AGT	p.G200S	SPP1_uc003hrb.2_Missense_Mutation_p.G173S|SPP1_uc003hrc.2_Missense_Mutation_p.G186S|SPP1_uc011cde.1_Missense_Mutation_p.G213S|SPP1_uc003hrd.2_Missense_Mutation_p.G159S	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	200					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)														---	---	---	---	capture		Missense_Mutation	SNP	88903701	88903701	15599	4	G	A	A	47	47	SPP1	A	2	2
SMARCAD1	56916	broad.mit.edu	37	4	95204388	95204388	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95204388A>T	uc003htc.3	+	22	3098	c.2843A>T	c.(2842-2844)GAT>GTT	p.D948V	SMARCAD1_uc003htb.3_Missense_Mutation_p.D950V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D950V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D813V|SMARCAD1_uc011cdw.1_Missense_Mutation_p.D518V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	948	Helicase C-terminal.				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	95204388	95204388	15270	4	A	T	T	12	12	SMARCAD1	T	4	4
ANK2	287	broad.mit.edu	37	4	114280136	114280136	+	Missense_Mutation	SNP	G	T	T	rs55726422		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114280136G>T	uc003ibe.3	+	38	10462	c.10362G>T	c.(10360-10362)AGG>AGT	p.R3454S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R756S|ANK2_uc011cgb.1_Missense_Mutation_p.R3469S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---	capture		Missense_Mutation	SNP	114280136	114280136	624	4	G	T	T	43	43	ANK2	T	2	2
UGT8	7368	broad.mit.edu	37	4	115544119	115544119	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115544119C>A	uc003ibs.2	+	2	605	c.83C>A	c.(82-84)CCA>CAA	p.P28Q	UGT8_uc003ibt.2_Missense_Mutation_p.P28Q|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	28					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)														---	---	---	---	capture		Missense_Mutation	SNP	115544119	115544119	17523	4	C	A	A	21	21	UGT8	A	2	2
TBC1D9	23158	broad.mit.edu	37	4	141578722	141578722	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141578722C>G	uc010ioj.2	-	12	2438	c.2166G>C	c.(2164-2166)TTG>TTC	p.L722F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	722						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)																---	---	---	---	capture		Missense_Mutation	SNP	141578722	141578722	16153	4	C	G	G	29	29	TBC1D9	G	3	3
LRBA	987	broad.mit.edu	37	4	151604779	151604779	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151604779T>C	uc010ipj.2	-	37	6319	c.5845A>G	c.(5845-5847)ACA>GCA	p.T1949A	LRBA_uc003ilt.3_Missense_Mutation_p.T608A|LRBA_uc003ilu.3_Missense_Mutation_p.T1949A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1949						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---	capture		Missense_Mutation	SNP	151604779	151604779	9304	4	T	C	C	58	58	LRBA	C	4	4
WWC2	80014	broad.mit.edu	37	4	184233499	184233499	+	Silent	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184233499A>G	uc010irx.2	+	22	3572	c.3390A>G	c.(3388-3390)GAA>GAG	p.E1130E	WWC2_uc003ivk.3_Silent_p.E925E|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.E812E|WWC2_uc003ivn.3_Silent_p.E645E|WWC2_uc010irz.2_Silent_p.E471E|WWC2_uc003ivo.3_Silent_p.E258E	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1130	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)														---	---	---	---	capture		Silent	SNP	184233499	184233499	17986	4	A	G	G	2	2	WWC2	G	4	4
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:189068016C>G	uc003izm.1	+	6	1012	c.897C>G	c.(895-897)CTC>CTG	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)														---	---	---	---	capture		Silent	SNP	189068016	189068016	17100	4	C	G	G	31	31	TRIML1	G	3	3
DNAH5	1767	broad.mit.edu	37	5	13766275	13766275	+	Missense_Mutation	SNP	G	A	A	rs139821753		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13766275G>A	uc003jfd.2	-	59	9953	c.9911C>T	c.(9910-9912)TCG>TTG	p.S3304L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3304	Stalk (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	13766275	13766275	4787	5	G	A	A	37	37	DNAH5	A	1	1
DNAH5	1767	broad.mit.edu	37	5	13919404	13919404	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13919404C>T	uc003jfd.2	-	7	898	c.856G>A	c.(856-858)GAG>AAG	p.E286K	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	286	Potential.|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	13919404	13919404	4787	5	C	T	T	30	30	DNAH5	T	2	2
CDH18	1016	broad.mit.edu	37	5	19483619	19483619	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19483619C>A	uc003jgc.2	-	11	2050	c.1673G>T	c.(1672-1674)CGA>CTA	p.R558L	CDH18_uc003jgd.2_Missense_Mutation_p.R558L|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	558	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---	capture		Missense_Mutation	SNP	19483619	19483619	3232	5	C	A	A	31	31	CDH18	A	1	1
CDH12	1010	broad.mit.edu	37	5	22078561	22078561	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078561C>A	uc010iuc.2	-	2	683	c.225G>T	c.(223-225)GTG>GTT	p.V75V	CDH12_uc011cno.1_Silent_p.V75V|CDH12_uc003jgk.2_Silent_p.V75V	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	75	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Silent	SNP	22078561	22078561	3227	5	C	A	A	21	21	CDH12	A	2	2
ZFR	51663	broad.mit.edu	37	5	32387667	32387667	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32387667G>T	uc003jhr.1	-	14	2567	c.2487C>A	c.(2485-2487)CCC>CCA	p.P829P	ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	829	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---	capture		Silent	SNP	32387667	32387667	18249	5	G	T	T	47	47	ZFR	T	2	2
C5orf34	375444	broad.mit.edu	37	5	43487154	43487154	+	Missense_Mutation	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43487154A>G	uc003jnz.1	-	14	2097	c.1780T>C	c.(1780-1782)TCT>CCT	p.S594P		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	594										breast(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	43487154	43487154	2391	5	A	G	G	10	10	C5orf34	G	4	4
C5orf34	375444	broad.mit.edu	37	5	43506193	43506193	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43506193C>T	uc003jnz.1	-	5	906	c.589G>A	c.(589-591)GAG>AAG	p.E197K	C5orf34_uc011cpx.1_Missense_Mutation_p.E83K	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	197										breast(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	43506193	43506193	2391	5	C	T	T	29	29	C5orf34	T	2	2
PARP8	79668	broad.mit.edu	37	5	50123778	50123778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50123778C>T	uc003jon.3	+	21	2160	c.1978C>T	c.(1978-1980)CAA>TAA	p.Q660*	PARP8_uc011cpz.1_Nonsense_Mutation_p.Q552*|PARP8_uc003joo.2_Nonsense_Mutation_p.Q660*|PARP8_uc003jop.2_Nonsense_Mutation_p.Q618*	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	660	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---	capture		Nonsense_Mutation	SNP	50123778	50123778	11882	5	C	T	T	25	25	PARP8	T	5	2
ITGA2	3673	broad.mit.edu	37	5	52358679	52358679	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52358679G>T	uc003joy.2	+	13	1665	c.1522G>T	c.(1522-1524)GTG>TTG	p.V508L	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V432L|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	508	FG-GAP 5.|Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---	capture		Missense_Mutation	SNP	52358679	52358679	8179	5	G	T	T	40	40	ITGA2	T	1	1
UTP15	84135	broad.mit.edu	37	5	72872776	72872776	+	Splice_Site	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72872776G>T	uc003kcw.1	+	8	1033	c.810_splice	c.e8-1	p.R270_splice	UTP15_uc011cso.1_Splice_Site_p.R251_splice|UTP15_uc011csp.1_Splice_Site_p.R80_splice|UTP15_uc010ize.1_Splice_Site_p.R270_splice	NM_032175	NP_115551			UTP15, U3 small nucleolar ribonucleoprotein,						rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---	capture		Splice_Site	SNP	72872776	72872776	17662	5	G	T	T	35	35	UTP15	T	5	2
YTHDC2	64848	broad.mit.edu	37	5	112870077	112870077	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112870077G>A	uc003kqn.2	+	6	1101	c.918G>A	c.(916-918)ACG>ACA	p.T306T	YTHDC2_uc010jce.1_Silent_p.T306T|YTHDC2_uc010jcf.1_Silent_p.T6T	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	306	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)														---	---	---	---	capture		Silent	SNP	112870077	112870077	18080	5	G	A	A	40	40	YTHDC2	A	1	1
SEC24A	10802	broad.mit.edu	37	5	134002525	134002525	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134002525C>A	uc003kzs.2	+	3	866	c.578C>A	c.(577-579)CCT>CAT	p.P193H	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	193	Pro-rich.				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	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture		Missense_Mutation	SNP	134002525	134002525	14480	5	C	A	A	24	24	SEC24A	A	2	2
FAM13B	51306	broad.mit.edu	37	5	137347574	137347574	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137347574G>T	uc003lbz.2	-	5	965	c.431C>A	c.(430-432)CCT>CAT	p.P144H	FAM13B_uc003lcb.2_Missense_Mutation_p.P26H|FAM13B_uc003lca.2_Missense_Mutation_p.P144H	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	144	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	137347574	137347574	5650	5	G	T	T	35	35	FAM13B	T	2	2
KIF20A	10112	broad.mit.edu	37	5	137520077	137520077	+	Nonsense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137520077C>G	uc003lcj.2	+	12	1998	c.1502C>G	c.(1501-1503)TCA>TGA	p.S501*	KIF20A_uc011cyo.1_Nonsense_Mutation_p.S483*	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	501					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Nonsense_Mutation	SNP	137520077	137520077	8597	5	C	G	G	29	29	KIF20A	G	5	3
HSPA9	3313	broad.mit.edu	37	5	137897394	137897394	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137897394C>A	uc003ldf.2	-	10	1165	c.1057G>T	c.(1057-1059)GGG>TGG	p.G353W	HSPA9_uc011cyw.1_Missense_Mutation_p.G284W|SNORD63_uc003ldg.2_5'Flank	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	353					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---	capture		Missense_Mutation	SNP	137897394	137897394	7716	5	C	A	A	24	24	HSPA9	A	2	2
HARS	3035	broad.mit.edu	37	5	140056260	140056260	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140056260G>T	uc003lgv.2	-	10	1255	c.1173C>A	c.(1171-1173)TCC>TCA	p.S391S	HARS_uc003lgu.2_Silent_p.S322S|HARS_uc011czm.1_Silent_p.S351S|HARS_uc003lgw.2_Silent_p.S371S|HARS_uc011czn.1_Silent_p.S331S|HARS_uc010jfu.2_Silent_p.S391S|HARS_uc011czo.1_Silent_p.S317S|HARS_uc011czp.1_Silent_p.S277S|HARS_uc011czq.1_Silent_p.S281S	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	391					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)													---	---	---	---	capture		Silent	SNP	140056260	140056260	7241	5	G	T	T	47	47	HARS	T	2	2
PCDHA6	56142	broad.mit.edu	37	5	140207755	140207755	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140207755G>T	uc003lho.2	+	1	106	c.79G>T	c.(79-81)GGG>TGG	p.G27W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.G27W|PCDHA6_uc011dab.1_Missense_Mutation_p.G27W	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	27					homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140207755	140207755	11948	5	G	T	T	43	43	PCDHA6	T	2	2
PCDHB2	56133	broad.mit.edu	37	5	140476341	140476341	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140476341C>A	uc003lil.2	+	1	2105	c.1967C>A	c.(1966-1968)GCC>GAC	p.A656D	PCDHB2_uc003lim.1_Missense_Mutation_p.A317D	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	656	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140476341	140476341	11962	5	C	A	A	26	26	PCDHB2	A	2	2
PCDHB13	56123	broad.mit.edu	37	5	140596022	140596022	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140596022C>A	uc003lja.1	+	1	2514	c.2327C>A	c.(2326-2328)CCC>CAC	p.P776H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	776	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140596022	140596022	11958	5	C	A	A	22	22	PCDHB13	A	2	2
PCDHGA5	56110	broad.mit.edu	37	5	140746176	140746176	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140746176C>G	uc003lju.1	+	1	2279	c.2279C>G	c.(2278-2280)ACC>AGC	p.T760S	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_uc011das.1_Missense_Mutation_p.T760S	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	760	Cytoplasmic (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	140746176	140746176	11977	5	C	G	G	18	18	PCDHGA5	G	3	3
PCDH12	51294	broad.mit.edu	37	5	141329004	141329004	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141329004G>T	uc003llx.2	-	3	4334	c.3123C>A	c.(3121-3123)CCC>CCA	p.P1041P		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1041	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	141329004	141329004	11930	5	G	T	T	47	47	PCDH12	T	2	2
NDST1	3340	broad.mit.edu	37	5	149925029	149925029	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149925029G>A	uc003lsk.3	+	11	2628	c.2126G>A	c.(2125-2127)CGG>CAG	p.R709Q	NDST1_uc011dcj.1_Missense_Mutation_p.R709Q	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	709	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	149925029	149925029	10654	5	G	A	A	39	39	NDST1	A	1	1
ANXA6	309	broad.mit.edu	37	5	150496742	150496742	+	Splice_Site	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150496742C>A	uc003ltl.1	-	20	1671	c.1519_splice	c.e20-1	p.G507_splice	ANXA6_uc011dcp.1_Splice_Site_p.G475_splice|ANXA6_uc003ltm.1_Splice_Site_p.G507_splice|ANXA6_uc003ltn.1_Splice_Site_p.G300_splice|ANXA6_uc003lto.1_Splice_Site_p.G94_splice	NM_001155	NP_001146			annexin VI isoform 1							melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Splice_Site	SNP	150496742	150496742	730	5	C	A	A	24	24	ANXA6	A	5	2
SLIT3	6586	broad.mit.edu	37	5	168199840	168199840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168199840G>A	uc003mab.2	-	14	1825	c.1405C>T	c.(1405-1407)CGA>TGA	p.R469*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.R469*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R469*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R266*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	469	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Nonsense_Mutation	SNP	168199840	168199840	15239	5	G	A	A	39	39	SLIT3	A	5	1
GPRIN1	114787	broad.mit.edu	37	5	176025939	176025939	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176025939G>T	uc003meo.1	-	2	1072	c.897C>A	c.(895-897)CCC>CCA	p.P299P		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	299						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Silent	SNP	176025939	176025939	7005	5	G	T	T	47	47	GPRIN1	T	2	2
MAPK9	5601	broad.mit.edu	37	5	179668047	179668047	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179668047G>T	uc003mls.3	-	9	1251	c.980C>A	c.(979-981)CCC>CAC	p.P327H	MAPK9_uc003mlt.3_Missense_Mutation_p.P327H|MAPK9_uc010jlc.2_Missense_Mutation_p.P327H|MAPK9_uc003mlv.3_Missense_Mutation_p.P327H	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	327					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|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|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	179668047	179668047	9670	5	G	T	T	43	43	MAPK9	T	2	2
CNOT6	57472	broad.mit.edu	37	5	179991578	179991578	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179991578G>T	uc003mlx.2	+	5	824	c.475G>T	c.(475-477)GGT>TGT	p.G159C	CNOT6_uc010jld.2_Missense_Mutation_p.G159C|CNOT6_uc010jle.2_Missense_Mutation_p.V159F	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	159					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)														---	---	---	---	capture		Missense_Mutation	SNP	179991578	179991578	3760	5	G	T	T	35	35	CNOT6	T	2	2
DSP	1832	broad.mit.edu	37	6	7585890	7585890	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7585890G>T	uc003mxp.1	+	24	8674	c.8395G>T	c.(8395-8397)GGG>TGG	p.G2799W	DSP_uc003mxq.1_Missense_Mutation_p.G2200W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2799	Plectin 17.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---	capture		Missense_Mutation	SNP	7585890	7585890	4965	6	G	T	T	47	47	DSP	T	2	2
HIVEP1	3096	broad.mit.edu	37	6	12121781	12121781	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12121781C>T	uc003nac.2	+	4	1932	c.1753C>T	c.(1753-1755)CCT>TCT	p.P585S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	585					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	12121781	12121781	7477	6	C	T	T	26	26	HIVEP1	T	2	2
CDKAL1	54901	broad.mit.edu	37	6	21108660	21108660	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:21108660G>T	uc003ndc.1	+	13	1439	c.1265G>T	c.(1264-1266)CGG>CTG	p.R422L	CDKAL1_uc003ndd.1_Missense_Mutation_p.R422L|CDKAL1_uc003nde.1_Intron|CDKAL1_uc003ndf.1_Missense_Mutation_p.R18L	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	422					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	21108660	21108660	3281	6	G	T	T	39	39	CDKAL1	T	1	1
DCDC2	51473	broad.mit.edu	37	6	24178827	24178827	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24178827C>A	uc003ndx.2	-	9	1359	c.1057G>T	c.(1057-1059)GGA>TGA	p.G353*	DCDC2_uc003ndy.2_Nonsense_Mutation_p.G353*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.G104*	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	353					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)																---	---	---	---	capture		Nonsense_Mutation	SNP	24178827	24178827	4456	6	C	A	A	21	21	DCDC2	A	5	2
ZNF391	346157	broad.mit.edu	37	6	27368847	27368847	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27368847G>A	uc003njf.1	+	3	1216	c.698G>A	c.(697-699)CGT>CAT	p.R233H		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	233	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	27368847	27368847	18472	6	G	A	A	40	40	ZNF391	A	1	1
HIST1H3H	8357	broad.mit.edu	37	6	27778110	27778110	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27778110A>T	uc003njm.2	+	1	269	c.259A>T	c.(259-261)AGC>TGC	p.S87C	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	87					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	27778110	27778110	7447	6	A	T	T	11	11	HIST1H3H	T	4	4
SCAND3	114821	broad.mit.edu	37	6	28554394	28554394	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28554394C>A	uc003nlo.2	-	1	719	c.101G>T	c.(100-102)TGG>TTG	p.W34L	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	34					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	28554394	28554394	14357	6	C	A	A	21	21	SCAND3	A	2	2
C6orf136	221545	broad.mit.edu	37	6	30617380	30617380	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30617380C>A	uc003nqw.3	+	2	311	c.118C>A	c.(118-120)CAC>AAC	p.H40N	C6orf136_uc003nqx.3_Missense_Mutation_p.H221N|C6orf136_uc011dmn.1_Intron	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	40											0																		---	---	---	---	capture		Missense_Mutation	SNP	30617380	30617380	2434	6	C	A	A	21	21	C6orf136	A	2	2
MDC1	9656	broad.mit.edu	37	6	30673150	30673150	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30673150C>A	uc003nrg.3	-	10	4250	c.3810G>T	c.(3808-3810)AGG>AGT	p.R1270S	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R877S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1270	Pro-rich.|Interaction with the PRKDC complex.			Missing (in Ref. 2; CAH18685).	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	30673150	30673150	9792	6	C	A	A	22	22	MDC1	A	2	2
MSH5	4439	broad.mit.edu	37	6	31708975	31708975	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31708975G>T	uc003nwv.1	+	3	262	c.183G>T	c.(181-183)TTG>TTT	p.L61F	MSH5_uc003nwt.1_Missense_Mutation_p.L61F|MSH5_uc003nwu.1_Missense_Mutation_p.L61F|MSH5_uc003nww.1_Missense_Mutation_p.L61F|MSH5_uc003nwx.1_Missense_Mutation_p.L61F	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	61					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---	capture		Missense_Mutation	SNP	31708975	31708975	10266	6	G	T	T	47	47	MSH5	T	2	2
PPT2	9374	broad.mit.edu	37	6	32130605	32130605	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									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
HLA-DRB5	3127	broad.mit.edu	37	6	32487330	32487330	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32487330C>T	uc003obj.2	-	3	474	c.469G>A	c.(469-471)GAA>AAA	p.E157K	HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Missense_Mutation_p.E157K	NM_002125	NP_002116	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR	157	Ig-like C1-type.|Beta-2.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0																		---	---	---	---	capture		Missense_Mutation	SNP	32487330	32487330	7500	6	C	T	T	29	29	HLA-DRB5	T	2	2
HLA-DRB1	3123	broad.mit.edu	37	6	32549517	32549517	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32549517C>T	uc003obp.3	-	3	512	c.469G>A	c.(469-471)GAA>AAA	p.E157K	HLA-DRB1_uc011dqa.1_5'UTR|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_Intron|HLA-DRB1_uc011dqb.1_5'UTR|HLA-DRB1_uc011dqc.1_5'UTR	NM_002124	NP_002115	P01911	2B1F_HUMAN	major histocompatibility complex, class II, DR	157	Ig-like C1-type.|Beta-2.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				skin(1)	1														Rheumatoid_Arthritis|Sj_gren_syndrome	Multiple Myeloma(14;0.17)			---	---	---	---	capture		Missense_Mutation	SNP	32549517	32549517	7499	6	C	T	T	29	29	HLA-DRB1	T	2	2
COL11A2	1302	broad.mit.edu	37	6	33139299	33139299	+	Missense_Mutation	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33139299A>T	uc003ocx.1	-	43	3431	c.3203T>A	c.(3202-3204)GTG>GAG	p.V1068E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.V982E|COL11A2_uc003ocz.1_Missense_Mutation_p.V961E	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1068	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	33139299	33139299	3806	6	A	T	T	6	6	COL11A2	T	4	4
ZBTB9	221504	broad.mit.edu	37	6	33422975	33422975	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33422975C>G	uc003oeq.2	+	2	366	c.98C>G	c.(97-99)TCT>TGT	p.S33C		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	33422975	33422975	18146	6	C	G	G	32	32	ZBTB9	G	3	3
PEX6	5190	broad.mit.edu	37	6	42932076	42932076	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42932076G>T	uc003otf.2	-	17	3033	c.2940C>A	c.(2938-2940)TGC>TGA	p.C980*	uc003ote.1_5'Flank|PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	980					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)															---	---	---	---	capture		Nonsense_Mutation	SNP	42932076	42932076	12172	6	G	T	T	34	34	PEX6	T	5	2
ZNF318	24149	broad.mit.edu	37	6	43316169	43316169	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43316169G>T	uc003oux.2	-	6	3043	c.2965C>A	c.(2965-2967)CAG>AAG	p.Q989K	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	989					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)															---	---	---	---	capture		Missense_Mutation	SNP	43316169	43316169	18428	6	G	T	T	47	47	ZNF318	T	2	2
POLR1C	9533	broad.mit.edu	37	6	43488447	43488447	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43488447G>T	uc003ovn.2	+	7	797	c.740G>T	c.(739-741)GGG>GTG	p.G247V	POLR1C_uc003ovo.1_Missense_Mutation_p.G247V	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	247					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---	capture		Missense_Mutation	SNP	43488447	43488447	12639	6	G	T	T	43	43	POLR1C	T	2	2
AARS2	57505	broad.mit.edu	37	6	44279966	44279966	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44279966C>T	uc010jza.1	-	2	281	c.278G>A	c.(277-279)CGA>CAA	p.R93Q	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	93					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---	capture		Missense_Mutation	SNP	44279966	44279966	21	6	C	T	T	31	31	AARS2	T	1	1
CYP39A1	51302	broad.mit.edu	37	6	46620210	46620210	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46620210G>T	uc003oyf.1	-	1	314	c.110C>A	c.(109-111)CCT>CAT	p.P37H	CYP39A1_uc011dwa.1_Missense_Mutation_p.P37H|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	37					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	46620210	46620210	4342	6	G	T	T	35	35	CYP39A1	T	2	2
RHAG	6005	broad.mit.edu	37	6	49587042	49587042	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49587042C>G	uc003ozk.3	-	2	253	c.191G>C	c.(190-192)GGG>GCG	p.G64A	RHAG_uc010jzl.2_Missense_Mutation_p.G64A|RHAG_uc010jzm.2_Missense_Mutation_p.G64A	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	64	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)																	---	---	---	---	capture		Missense_Mutation	SNP	49587042	49587042	13790	6	C	G	G	22	22	RHAG	G	3	3
PKHD1	5314	broad.mit.edu	37	6	51890331	51890331	+	Nonsense_Mutation	SNP	G	T	T	rs149167975		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51890331G>T	uc003pah.1	-	32	4553	c.4277C>A	c.(4276-4278)TCG>TAG	p.S1426*	PKHD1_uc003pai.2_Nonsense_Mutation_p.S1426*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1426	IPT/TIG 9.|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		Nonsense_Mutation	SNP	51890331	51890331	12396	6	G	T	T	37	37	PKHD1	T	5	1
GSTA5	221357	broad.mit.edu	37	6	52697667	52697667	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52697667G>T	uc003pba.1	-	6	606	c.536C>A	c.(535-537)CCT>CAT	p.P179H		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	179	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)													---	---	---	---	capture		Missense_Mutation	SNP	52697667	52697667	7114	6	G	T	T	35	35	GSTA5	T	2	2
HCRTR2	3062	broad.mit.edu	37	6	55128539	55128539	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55128539C>G	uc003pcl.2	+	4	996	c.681C>G	c.(679-681)TTC>TTG	p.F227L	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.F162L	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	227	Helical; Name=5; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---	capture		Missense_Mutation	SNP	55128539	55128539	7285	6	C	G	G	32	32	HCRTR2	G	3	3
PHF3	23469	broad.mit.edu	37	6	64408187	64408187	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64408187G>T	uc003pep.1	+	6	2781	c.2755G>T	c.(2755-2757)GCT>TCT	p.A919S	PHF3_uc010kag.1_Missense_Mutation_p.A831S|PHF3_uc010kah.1_Missense_Mutation_p.A733S|PHF3_uc003pen.2_Missense_Mutation_p.A831S|PHF3_uc011dxs.1_Missense_Mutation_p.A188S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	919					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---	capture		Missense_Mutation	SNP	64408187	64408187	12259	6	G	T	T	46	46	PHF3	T	2	2
COL12A1	1303	broad.mit.edu	37	6	75848583	75848583	+	Silent	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75848583G>C	uc003phs.2	-	28	5218	c.5052C>G	c.(5050-5052)CTC>CTG	p.L1684L	COL12A1_uc003pht.2_Silent_p.L520L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1684	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---	capture		Silent	SNP	75848583	75848583	3807	6	G	C	C	33	33	COL12A1	C	3	3
HTR1B	3351	broad.mit.edu	37	6	78172386	78172386	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:78172386G>T	uc003pil.1	-	1	735	c.735C>A	c.(733-735)AAC>AAA	p.N245K		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	245	Cytoplasmic (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		Missense_Mutation	SNP	78172386	78172386	7737	6	G	T	T	48	48	HTR1B	T	2	2
SLC35A1	10559	broad.mit.edu	37	6	88221170	88221170	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88221170G>T	uc011dzj.1	+	8	1019	c.940G>T	c.(940-942)GGA>TGA	p.G314*	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_Nonsense_Mutation_p.G162*|SLC35A1_uc003plz.2_RNA|SLC35A1_uc011dzi.1_Nonsense_Mutation_p.G180*|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Nonsense_Mutation_p.G255*|SLC35A1_uc010kby.2_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	314	Helical; (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---	capture		Nonsense_Mutation	SNP	88221170	88221170	15067	6	G	T	T	47	47	SLC35A1	T	5	2
CASP8AP2	9994	broad.mit.edu	37	6	90576794	90576794	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90576794C>A	uc003pnr.2	+	8	3981	c.3785C>A	c.(3784-3786)CCA>CAA	p.P1262Q	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1262Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1262Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1262					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)														---	---	---	---	capture		Missense_Mutation	SNP	90576794	90576794	2797	6	C	A	A	21	21	CASP8AP2	A	2	2
MCHR2	84539	broad.mit.edu	37	6	100403965	100403965	+	Nonsense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100403965C>T	uc003pqh.1	-	2	374	c.59G>A	c.(58-60)TGG>TAG	p.W20*	MCHR2_uc003pqi.1_Nonsense_Mutation_p.W20*	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	20	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---	capture		Nonsense_Mutation	SNP	100403965	100403965	9772	6	C	T	T	21	21	MCHR2	T	5	2
POPDC3	64208	broad.mit.edu	37	6	105609460	105609460	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105609460G>T	uc003prb.2	-	2	727	c.325C>A	c.(325-327)CAA>AAA	p.Q109K	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	109						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		Missense_Mutation	SNP	105609460	105609460	12685	6	G	T	T	47	47	POPDC3	T	2	2
FOXO3	2309	broad.mit.edu	37	6	108985287	108985287	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108985287C>A	uc003psk.2	+	3	1567	c.1251C>A	c.(1249-1251)ACC>ACA	p.T417T	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.T417T|FOXO3_uc011ean.1_Silent_p.T197T|FOXO3_uc010kdj.1_Silent_p.T197T	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	417					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)														---	---	---	---	capture		Silent	SNP	108985287	108985287	6270	6	C	A	A	21	21	FOXO3	A	2	2
NCOA7	135112	broad.mit.edu	37	6	126206390	126206390	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126206390G>T	uc010kes.2	+	10	1234	c.785G>T	c.(784-786)GGG>GTG	p.G262V	NCOA7_uc003qae.3_Missense_Mutation_p.G262V|NCOA7_uc003qah.2_Missense_Mutation_p.G262V|NCOA7_uc003qai.2_Missense_Mutation_p.G262V|NCOA7_uc010ket.2_Missense_Mutation_p.G158V|NCOA7_uc003qag.2_Missense_Mutation_p.G262V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	262					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	126206390	126206390	10633	6	G	T	T	43	43	NCOA7	T	2	2
MOXD1	26002	broad.mit.edu	37	6	132643820	132643820	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132643820G>T	uc003qdf.2	-	8	1402	c.1303C>A	c.(1303-1305)CCA>ACA	p.P435T	MOXD1_uc003qde.2_Missense_Mutation_p.P367T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	435	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)														---	---	---	---	capture		Missense_Mutation	SNP	132643820	132643820	10112	6	G	T	T	44	44	MOXD1	T	2	2
HIVEP2	3097	broad.mit.edu	37	6	143081135	143081135	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143081135C>G	uc003qjd.2	-	9	7033	c.6290G>C	c.(6289-6291)AGA>ACA	p.R2097T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	2097	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	143081135	143081135	7478	6	C	G	G	32	32	HIVEP2	G	3	3
SASH1	23328	broad.mit.edu	37	6	148869683	148869683	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148869683G>C	uc003qme.1	+	20	4208	c.3733G>C	c.(3733-3735)GAG>CAG	p.E1245Q	SASH1_uc003qmf.1_Missense_Mutation_p.E655Q	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1245							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	148869683	148869683	14329	6	G	C	C	45	45	SASH1	C	3	3
AKAP12	9590	broad.mit.edu	37	6	151671465	151671465	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151671465G>T	uc011eep.1	+	4	2179	c.1939G>T	c.(1939-1941)GAG>TAG	p.E647*	AKAP12_uc003qoe.2_Nonsense_Mutation_p.E647*|AKAP12_uc003qof.2_Nonsense_Mutation_p.E549*|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Nonsense_Mutation_p.E542*	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	647					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)														---	---	---	---	capture		Nonsense_Mutation	SNP	151671465	151671465	451	6	G	T	T	37	37	AKAP12	T	5	1
CNKSR3	154043	broad.mit.edu	37	6	154744078	154744078	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154744078C>T	uc003qpy.2	-	8	1274	c.769G>A	c.(769-771)GAA>AAA	p.E257K		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	257	PDZ.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)														---	---	---	---	capture		Missense_Mutation	SNP	154744078	154744078	3746	6	C	T	T	31	31	CNKSR3	T	1	1
RBM16	22828	broad.mit.edu	37	6	155153576	155153576	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155153576C>A	uc003qqa.2	+	21	3095	c.2863C>A	c.(2863-2865)CCA>ACA	p.P955T	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P1021T|RBM16_uc011efk.1_Missense_Mutation_p.P1000T|RBM16_uc003qpz.2_Missense_Mutation_p.P955T|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	955	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)														---	---	---	---	capture		Missense_Mutation	SNP	155153576	155153576	13579	6	C	A	A	22	22	RBM16	A	2	2
TFB1M	51106	broad.mit.edu	37	6	155579120	155579120	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155579120G>C	uc003qqj.3	-	7	955	c.891C>G	c.(889-891)ATC>ATG	p.I297M	TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)														---	---	---	---	capture		Missense_Mutation	SNP	155579120	155579120	16321	6	G	C	C	33	33	TFB1M	C	3	3
TMEM181	57583	broad.mit.edu	37	6	158957791	158957791	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158957791G>C	uc003qrm.3	+	1	324	c.313G>C	c.(313-315)GAG>CAG	p.E105Q	TMEM181_uc010kjr.1_5'UTR	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	105					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)														---	---	---	---	capture		Missense_Mutation	SNP	158957791	158957791	16634	6	G	C	C	45	45	TMEM181	C	3	3
LPA	4018	broad.mit.edu	37	6	160953575	160953575	+	Silent	SNP	A	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160953575A>G	uc003qtl.2	-	39	6069	c.5949T>C	c.(5947-5949)ACT>ACC	p.T1983T		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4491	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)													---	---	---	---	capture		Silent	SNP	160953575	160953575	9276	6	A	G	G	7	7	LPA	G	4	4
MAP3K4	4216	broad.mit.edu	37	6	161514085	161514085	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161514085C>A	uc003qtn.2	+	14	3487	c.3345C>A	c.(3343-3345)TTC>TTA	p.F1115L	MAP3K4_uc010kkc.1_Missense_Mutation_p.F1115L|MAP3K4_uc003qto.2_Missense_Mutation_p.F1115L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.F568L|MAP3K4_uc003qtp.2_Missense_Mutation_p.F105L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1115					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		Missense_Mutation	SNP	161514085	161514085	9635	6	C	A	A	32	32	MAP3K4	A	2	2
AGPAT4	56895	broad.mit.edu	37	6	161653130	161653130	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161653130C>A	uc003qtr.1	-	2	343	c.116G>T	c.(115-117)TGG>TTG	p.W39L	AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.W39L|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.W39L|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.W39L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	39					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)														---	---	---	---	capture		Missense_Mutation	SNP	161653130	161653130	392	6	C	A	A	21	21	AGPAT4	A	2	2
TCP10	6953	broad.mit.edu	37	6	167787904	167787904	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167787904C>A	uc003qvv.1	-	7	936	c.724G>T	c.(724-726)GGA>TGA	p.G242*	TCP10_uc003qvu.2_Nonsense_Mutation_p.G242*|TCP10_uc003qvw.2_3'UTR	NM_004610	NP_004601	Q12799	TCP10_HUMAN	t-complex 10	269						cytosol				breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)														---	---	---	---	capture		Nonsense_Mutation	SNP	167787904	167787904	16236	6	C	A	A	23	23	TCP10	A	5	1
MLLT4	4301	broad.mit.edu	37	6	168352586	168352586	+	Silent	SNP	C	T	T	rs141139097		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168352586C>T	uc003qwd.2	+	29	4670	c.4528C>T	c.(4528-4530)CTG>TTG	p.L1510L	MLLT4_uc003qwb.1_Silent_p.L1495L|MLLT4_uc003qwc.1_Silent_p.L1511L|MLLT4_uc003qwg.1_Silent_p.L820L	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1511					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)				T	MLL	AL								---	---	---	---	capture		Silent	SNP	168352586	168352586	10019	6	C	T	T	32	32	MLLT4	T	2	2
SNX8	29886	broad.mit.edu	37	7	2297430	2297430	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2297430C>A	uc003slw.2	-	8	967	c.924G>T	c.(922-924)CAG>CAT	p.Q308H		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	308					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)														---	---	---	---	capture		Missense_Mutation	SNP	2297430	2297430	15408	7	C	A	A	24	24	SNX8	A	2	2
MMD2	221938	broad.mit.edu	37	7	4959907	4959907	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4959907T>C	uc003sno.3	-	3	381	c.185A>G	c.(184-186)GAT>GGT	p.D62G	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.D62G|MMD2_uc010ksq.2_Missense_Mutation_p.D62G	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	62	Extracellular (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)														---	---	---	---	capture		Missense_Mutation	SNP	4959907	4959907	10034	7	T	C	C	50	50	MMD2	C	4	4
RBAK	57786	broad.mit.edu	37	7	5097379	5097379	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5097379G>T	uc010kss.1	+	5	531	c.207G>T	c.(205-207)ATG>ATT	p.M69I	LOC389458_uc003snr.2_Missense_Mutation_p.M69I|RBAK_uc003sns.1_Missense_Mutation_p.M69I	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	69	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)														---	---	---	---	capture		Missense_Mutation	SNP	5097379	5097379	13561	7	G	T	T	47	47	RBAK	T	2	2
SLC29A4	222962	broad.mit.edu	37	7	5334520	5334520	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5334520G>T	uc003sod.2	+	6	735	c.574G>T	c.(574-576)GGG>TGG	p.G192W	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.G192W|SLC29A4_uc003soe.2_Missense_Mutation_p.G178W	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	192	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)														---	---	---	---	capture		Missense_Mutation	SNP	5334520	5334520	15034	7	G	T	T	43	43	SLC29A4	T	2	2
ZDHHC4	55146	broad.mit.edu	37	7	6628525	6628525	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6628525G>T	uc003sqi.2	+	9	1377	c.1019G>T	c.(1018-1020)AGG>ATG	p.R340M	ZDHHC4_uc003sql.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R340M|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	340						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	6628525	6628525	18205	7	G	T	T	35	35	ZDHHC4	T	2	2
AHR	196	broad.mit.edu	37	7	17378616	17378616	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:17378616G>T	uc011jxz.1	+	10	1780	c.1167G>T	c.(1165-1167)GAG>GAT	p.E389D	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	389					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)																	---	---	---	---	capture		Missense_Mutation	SNP	17378616	17378616	419	7	G	T	T	35	35	AHR	T	2	2
HOXA11	3207	broad.mit.edu	37	7	27224653	27224653	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27224653G>T	uc003syx.2	-	1	183	c.111C>A	c.(109-111)ACC>ACA	p.T37T	HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11	37					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2								T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Silent	SNP	27224653	27224653	7582	7	G	T	T	43	43	HOXA11	T	2	2
NOD1	10392	broad.mit.edu	37	7	30490925	30490925	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30490925G>T	uc003tav.2	-	6	2631	c.2108C>A	c.(2107-2109)CCC>CAC	p.P703H		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	703	LRR 2.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	30490925	30490925	10919	7	G	T	T	43	43	NOD1	T	2	2
MYO1G	64005	broad.mit.edu	37	7	45016187	45016187	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45016187G>T	uc003tmh.2	-	3	518	c.374C>A	c.(373-375)CCA>CAA	p.P125Q	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.P10Q|MYO1G_uc003tmi.1_Missense_Mutation_p.P37Q|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	125	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	45016187	45016187	10469	7	G	T	T	47	47	MYO1G	T	2	2
SEC61G	23480	broad.mit.edu	37	7	54823496	54823496	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:54823496T>C	uc003tqf.2	-	3	264	c.173A>G	c.(172-174)CAT>CGT	p.H58R	SEC61G_uc003tqg.2_Missense_Mutation_p.H58R	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Sec61 gamma subunit	58	Helical; (Potential).				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			lung(1)	1	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)															---	---	---	---	capture		Missense_Mutation	SNP	54823496	54823496	14489	7	T	C	C	51	51	SEC61G	C	4	4
EGFR	1956	broad.mit.edu	37	7	55219027	55219027	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55219027G>T	uc003tqk.2	+	5	846	c.600G>T	c.(598-600)TGG>TGT	p.W200C	EGFR_uc003tqh.2_Missense_Mutation_p.W200C|EGFR_uc003tqi.2_Missense_Mutation_p.W200C|EGFR_uc003tqj.2_Missense_Mutation_p.W200C|EGFR_uc010kzg.1_Missense_Mutation_p.W155C|EGFR_uc011kco.1_Missense_Mutation_p.W147C|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	200	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---	capture		Missense_Mutation	SNP	55219027	55219027	5156	7	G	T	T	43	43	EGFR	T	2	2
EGFR	1956	broad.mit.edu	37	7	55224234	55224234	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55224234G>T	uc003tqk.2	+	9	1261	c.1015G>T	c.(1015-1017)GGA>TGA	p.G339*	EGFR_uc003tqh.2_Nonsense_Mutation_p.G339*|EGFR_uc003tqi.2_Nonsense_Mutation_p.G339*|EGFR_uc003tqj.2_Nonsense_Mutation_p.G339*|EGFR_uc010kzg.1_Nonsense_Mutation_p.G294*|EGFR_uc011kco.1_Nonsense_Mutation_p.G286*|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	339	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---	capture		Nonsense_Mutation	SNP	55224234	55224234	5156	7	G	T	T	39	39	EGFR	T	5	1
EGFR	1956	broad.mit.edu	37	7	55229291	55229291	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55229291G>T	uc003tqk.2	+	13	1844	c.1598G>T	c.(1597-1599)AGG>ATG	p.R533M	EGFR_uc003tqi.2_Missense_Mutation_p.R533M|EGFR_uc003tqj.2_Missense_Mutation_p.R533M|EGFR_uc010kzg.1_Missense_Mutation_p.R488M|EGFR_uc011kco.1_Missense_Mutation_p.R480M|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	533	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---	capture		Missense_Mutation	SNP	55229291	55229291	5156	7	G	T	T	35	35	EGFR	T	2	2
LANCL2	55915	broad.mit.edu	37	7	55493093	55493093	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55493093G>T	uc003tqp.2	+	7	1733	c.1155G>T	c.(1153-1155)CAG>CAT	p.Q385H		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	385					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)															---	---	---	---	capture		Missense_Mutation	SNP	55493093	55493093	8944	7	G	T	T	35	35	LANCL2	T	2	2
SEPT14	346288	broad.mit.edu	37	7	55863741	55863741	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55863741C>G	uc003tqz.2	-	10	1281	c.1164G>C	c.(1162-1164)GAG>GAC	p.E388D		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	388	Potential.				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---	capture		Missense_Mutation	SNP	55863741	55863741	14549	7	C	G	G	32	32	SEPT14	G	3	3
PION	54103	broad.mit.edu	37	7	77006682	77006682	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77006682G>T	uc003ugf.2	-	9	681	c.602C>A	c.(601-603)CCA>CAA	p.P201Q	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	201					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	77006682	77006682	12358	7	G	T	T	47	47	PION	T	2	2
DBF4	10926	broad.mit.edu	37	7	87526637	87526637	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87526637G>T	uc003ujf.1	+	8	1167	c.663G>T	c.(661-663)AAG>AAT	p.K221N	DBF4_uc003ujh.1_Translation_Start_Site|DBF4_uc003ujg.1_Translation_Start_Site|DBF4_uc011khf.1_Intron	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	221					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---	capture		Missense_Mutation	SNP	87526637	87526637	4419	7	G	T	T	35	35	DBF4	T	2	2
AKAP9	10142	broad.mit.edu	37	7	91726596	91726596	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91726596G>T	uc003ulg.2	+	41	10548	c.10323G>T	c.(10321-10323)CAG>CAT	p.Q3441H	AKAP9_uc003ulf.2_Missense_Mutation_p.Q3433H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3064H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1211H|AKAP9_uc003ull.2_Missense_Mutation_p.Q337H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3445	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	91726596	91726596	462	7	G	T	T	35	35	AKAP9	T	2	2
TRRAP	8295	broad.mit.edu	37	7	98508832	98508832	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98508832G>T	uc003upp.2	+	17	2154	c.1945G>T	c.(1945-1947)GAA>TAA	p.E649*	TRRAP_uc011kis.1_Nonsense_Mutation_p.E649*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E341*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	649					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	98508832	98508832	17152	7	G	T	T	33	33	TRRAP	T	5	2
TRRAP	8295	broad.mit.edu	37	7	98569472	98569472	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98569472C>A	uc003upp.2	+	52	7931	c.7722C>A	c.(7720-7722)CCC>CCA	p.P2574P	TRRAP_uc011kis.1_Silent_p.P2556P|TRRAP_uc003upr.2_Silent_p.P2273P	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2574					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Silent	SNP	98569472	98569472	17152	7	C	A	A	21	21	TRRAP	A	2	2
TRRAP	8295	broad.mit.edu	37	7	98581779	98581779	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98581779G>T	uc003upp.2	+	60	9307	c.9098G>T	c.(9097-9099)GGG>GTG	p.G3033V	TRRAP_uc011kis.1_Missense_Mutation_p.G3004V|TRRAP_uc003upr.2_Missense_Mutation_p.G2721V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3033	FAT.				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		Missense_Mutation	SNP	98581779	98581779	17152	7	G	T	T	43	43	TRRAP	T	2	2
TRRAP	8295	broad.mit.edu	37	7	98588092	98588092	+	Missense_Mutation	SNP	G	C	C	rs77396759		TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98588092G>C	uc003upp.2	+	63	9827	c.9618G>C	c.(9616-9618)TTG>TTC	p.L3206F	TRRAP_uc011kis.1_Missense_Mutation_p.L3177F|TRRAP_uc003upr.2_Missense_Mutation_p.L2894F	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3206	FAT.				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		Missense_Mutation	SNP	98588092	98588092	17152	7	G	C	C	45	45	TRRAP	C	3	3
TRRAP	8295	broad.mit.edu	37	7	98601931	98601931	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98601931G>T	uc003upp.2	+	67	10595	c.10386G>T	c.(10384-10386)GAG>GAT	p.E3462D	TRRAP_uc011kis.1_Missense_Mutation_p.E3433D|TRRAP_uc003upr.2_Missense_Mutation_p.E3168D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3462					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		Missense_Mutation	SNP	98601931	98601931	17152	7	G	T	T	35	35	TRRAP	T	2	2
SMURF1	57154	broad.mit.edu	37	7	98638071	98638071	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98638071C>A	uc003upu.1	-	14	1878	c.1558G>T	c.(1558-1560)GGG>TGG	p.G520W	SMURF1_uc003upv.1_Missense_Mutation_p.G494W|SMURF1_uc003upt.2_Missense_Mutation_p.G494W	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	520	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)													OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	98638071	98638071	15319	7	C	A	A	22	22	SMURF1	A	2	2
SMURF1	57154	broad.mit.edu	37	7	98643354	98643354	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98643354C>A	uc003upu.1	-	12	1621	c.1301G>T	c.(1300-1302)GGG>GTG	p.G434V	SMURF1_uc003upv.1_Missense_Mutation_p.G408V|SMURF1_uc003upt.2_Missense_Mutation_p.G408V	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	434	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)															---	---	---	---	capture		Missense_Mutation	SNP	98643354	98643354	15319	7	C	A	A	22	22	SMURF1	A	2	2
ZAN	7455	broad.mit.edu	37	7	100350456	100350456	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100350456C>A	uc003uwj.2	+	14	2893	c.2728C>A	c.(2728-2730)CCA>ACA	p.P910T	ZAN_uc003uwk.2_Missense_Mutation_p.P910T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	910	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---	capture		Missense_Mutation	SNP	100350456	100350456	18096	7	C	A	A	22	22	ZAN	A	2	2
EPHB4	2050	broad.mit.edu	37	7	100404041	100404041	+	Splice_Site	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100404041C>T	uc003uwn.1	-	14	2975	c.2484_splice	c.e14+1	p.D828_splice	EPHB4_uc003uwm.1_Splice_Site_p.D735_splice|EPHB4_uc010lhj.1_Splice_Site_p.D828_splice	NM_004444	NP_004435			EPH receptor B4 precursor						cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---	capture		Splice_Site	SNP	100404041	100404041	5370	7	C	T	T	19	19	EPHB4	T	5	1
MUC17	140453	broad.mit.edu	37	7	100679392	100679392	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100679392C>A	uc003uxp.1	+	3	4748	c.4695C>A	c.(4693-4695)ACC>ACA	p.T1565T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1565	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.					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		Silent	SNP	100679392	100679392	10368	7	C	A	A	24	24	MUC17	A	2	2
MUC17	140453	broad.mit.edu	37	7	100683654	100683654	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683654G>A	uc003uxp.1	+	3	9010	c.8957G>A	c.(8956-8958)AGA>AAA	p.R2986K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2986	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100683654	100683654	10368	7	G	A	A	33	33	MUC17	A	2	2
FEZF1	389549	broad.mit.edu	37	7	121943287	121943287	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121943287C>A	uc003vkd.2	-	2	954	c.880G>T	c.(880-882)GGA>TGA	p.G294*	FEZF1_uc003vkc.2_Nonsense_Mutation_p.G244*|uc010lko.1_5'Flank|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	294	C2H2-type 2.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	121943287	121943287	6062	7	C	A	A	23	23	FEZF1	A	5	1
IQUB	154865	broad.mit.edu	37	7	123104992	123104992	+	Silent	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123104992T>C	uc003vkn.2	-	10	2230	c.1653A>G	c.(1651-1653)GGA>GGG	p.G551G	IQUB_uc003vko.2_Silent_p.G551G|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.G551G	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	551										ovary(3)|large_intestine(1)	4																		---	---	---	---	capture		Silent	SNP	123104992	123104992	8123	7	T	C	C	54	54	IQUB	C	4	4
PLXNA4	91584	broad.mit.edu	37	7	131853105	131853105	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131853105T>C	uc003vra.3	-	22	4473	c.4244A>G	c.(4243-4245)AAG>AGG	p.K1415R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1415	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	131853105	131853105	12548	7	T	C	C	56	56	PLXNA4	C	4	4
PLXNA4	91584	broad.mit.edu	37	7	131872233	131872233	+	Missense_Mutation	SNP	T	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131872233T>C	uc003vra.3	-	15	3219	c.2990A>G	c.(2989-2991)CAC>CGC	p.H997R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	997	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	131872233	131872233	12548	7	T	C	C	59	59	PLXNA4	C	4	4
SLC13A4	26266	broad.mit.edu	37	7	135387595	135387595	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135387595C>A	uc003vta.2	-	6	1317	c.628G>T	c.(628-630)GAG>TAG	p.E210*	SLC13A4_uc003vtb.2_Nonsense_Mutation_p.E211*	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	210						integral to plasma membrane	sodium:sulfate symporter activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	135387595	135387595	14889	7	C	A	A	31	31	SLC13A4	A	5	1
WEE2	494551	broad.mit.edu	37	7	141414093	141414093	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141414093C>A	uc003vwn.2	+	2	833	c.427C>A	c.(427-429)CTC>ATC	p.L143I	FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_RNA|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	143					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	141414093	141414093	17919	7	C	A	A	24	24	WEE2	A	2	2
EZH2	2146	broad.mit.edu	37	7	148512011	148512011	+	Nonsense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148512011G>C	uc003wfd.1	-	14	1818	c.1652C>G	c.(1651-1653)TCA>TGA	p.S551*	EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Nonsense_Mutation_p.S556*|EZH2_uc003wfc.1_Nonsense_Mutation_p.S512*|EZH2_uc011kuh.1_Nonsense_Mutation_p.S542*	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	551	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)					Mis		DLBCL								---	---	---	---	capture		Nonsense_Mutation	SNP	148512011	148512011	5528	7	G	C	C	45	45	EZH2	C	5	3
ZNF425	155054	broad.mit.edu	37	7	148801651	148801651	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148801651C>T	uc003wfj.2	-	4	1385	c.1312G>A	c.(1312-1314)GGG>AGG	p.G438R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	438					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---	capture		Missense_Mutation	SNP	148801651	148801651	18492	7	C	T	T	21	21	ZNF425	T	2	2
SGCZ	137868	broad.mit.edu	37	8	14412436	14412436	+	Splice_Site	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14412436C>T	uc003wwq.2	-	2	700	c.40_splice	c.e2-1	p.M14_splice	SGCZ_uc010lss.2_Splice_Site_p.M1_splice	NM_139167	NP_631906			sarcoglycan zeta						cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)														---	---	---	---	capture		Splice_Site	SNP	14412436	14412436	14695	8	C	T	T	32	32	SGCZ	T	5	2
XPO7	23039	broad.mit.edu	37	8	21848343	21848343	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21848343G>T	uc003xaa.3	+	18	2056	c.1954G>T	c.(1954-1956)GGT>TGT	p.G652C	XPO7_uc010lti.2_Missense_Mutation_p.G661C|XPO7_uc010ltk.2_Missense_Mutation_p.G653C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	652					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)														---	---	---	---	capture		Missense_Mutation	SNP	21848343	21848343	18032	8	G	T	T	43	43	XPO7	T	2	2
CHMP7	91782	broad.mit.edu	37	8	23114092	23114092	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23114092C>A	uc003xdc.2	+	5	1425	c.777C>A	c.(775-777)TCC>TCA	p.S259S	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.S149S|CHMP7_uc003xde.2_Silent_p.S117S	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	259	Potential.				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)														---	---	---	---	capture		Silent	SNP	23114092	23114092	3495	8	C	A	A	22	22	CHMP7	A	2	2
NRG1	3084	broad.mit.edu	37	8	32617716	32617716	+	Splice_Site	SNP	A	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32617716A>T	uc003xiv.2	+	11	1579	c.1062_splice	c.e11-2	p.S354_splice	NRG1_uc011lbf.1_Splice_Site_p.S351_splice|NRG1_uc010lvo.2_Splice_Site_p.S351_splice|NRG1_uc003xiu.2_Splice_Site_p.S359_splice|NRG1_uc003xiw.2_Splice_Site_p.S351_splice|NRG1_uc003xit.2_Splice_Site_p.S354_splice|NRG1_uc010lvr.2_Splice_Site_p.S96_splice|NRG1_uc010lvs.2_Splice_Site_p.S96_splice|NRG1_uc010lvp.2_Splice_Site_p.S308_splice|NRG1_uc010lvq.2_Splice_Site_p.S291_splice|NRG1_uc011lbg.1_Splice_Site_p.S200_splice|NRG1_uc011lbh.1_Splice_Site_p.S197_splice|NRG1_uc003xja.2_Splice_Site_p.S165_splice	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---	capture		Splice_Site	SNP	32617716	32617716	11052	8	A	T	T	7	7	NRG1	T	5	4
FUT10	84750	broad.mit.edu	37	8	33246586	33246586	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33246586C>A	uc003xje.2	-	4	1463	c.1107G>T	c.(1105-1107)AGG>AGT	p.R369S	FUT10_uc003xjc.2_Missense_Mutation_p.R376S|FUT10_uc003xjd.2_Missense_Mutation_p.R341S|FUT10_uc011lbi.1_Missense_Mutation_p.R419S|FUT10_uc003xjf.2_Missense_Mutation_p.R307S|FUT10_uc003xjg.2_Missense_Mutation_p.R341S|FUT10_uc003xjh.2_Missense_Mutation_p.R369S	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	369	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	33246586	33246586	6353	8	C	A	A	22	22	FUT10	A	2	2
BAG4	9530	broad.mit.edu	37	8	38067632	38067632	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38067632C>A	uc003xky.1	+	5	1277	c.995C>A	c.(994-996)TCA>TAA	p.S332*	BAG4_uc003xkz.1_Nonsense_Mutation_p.S296*	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	332					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)																---	---	---	---	capture		Nonsense_Mutation	SNP	38067632	38067632	1310	8	C	A	A	29	29	BAG4	A	5	2
AGPAT6	137964	broad.mit.edu	37	8	41467233	41467233	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41467233G>T	uc003xnz.2	+	4	1234	c.295G>T	c.(295-297)GGT>TGT	p.G99C		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	99					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---	capture		Missense_Mutation	SNP	41467233	41467233	394	8	G	T	T	47	47	AGPAT6	T	2	2
ANK1	286	broad.mit.edu	37	8	41615563	41615563	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41615563G>T	uc003xok.2	-	2	204	c.120C>A	c.(118-120)ACC>ACA	p.T40T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.T40T|ANK1_uc003xoj.2_Silent_p.T40T|ANK1_uc003xol.2_Silent_p.T40T|ANK1_uc003xom.2_Silent_p.T73T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	40	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---	capture		Silent	SNP	41615563	41615563	623	8	G	T	T	35	35	ANK1	T	2	2
KIAA0146	23514	broad.mit.edu	37	8	48614343	48614343	+	Nonsense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48614343G>T	uc003xqd.2	+	13	1843	c.1834G>T	c.(1834-1836)GGA>TGA	p.G612*	KIAA0146_uc011ldb.1_Nonsense_Mutation_p.G612*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.G87*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.G542*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.G552*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.G87*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.G301*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.G301*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.G117*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.G102*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.G106*	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	612											0		Lung NSC(58;0.175)																---	---	---	---	capture		Nonsense_Mutation	SNP	48614343	48614343	8464	8	G	T	T	43	43	KIAA0146	T	5	2
RP1	6101	broad.mit.edu	37	8	55533754	55533754	+	Silent	SNP	C	A	A	rs142600056	byFrequency	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55533754C>A	uc003xsd.1	+	2	376	c.228C>A	c.(226-228)CTC>CTA	p.L76L	RP1_uc011ldy.1_Silent_p.L76L	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	76	Doublecortin 1.				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	55533754	55533754	14011	8	C	A	A	30	30	RP1	A	2	2
KCNB2	9312	broad.mit.edu	37	8	73848373	73848373	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848373C>G	uc003xzb.2	+	3	1371	c.783C>G	c.(781-783)TTC>TTG	p.F261L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	261	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---	capture		Missense_Mutation	SNP	73848373	73848373	8318	8	C	G	G	32	32	KCNB2	G	3	3
ZFHX4	79776	broad.mit.edu	37	8	77767611	77767611	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767611G>T	uc003yav.2	+	10	8706	c.8319G>T	c.(8317-8319)GAG>GAT	p.E2773D	ZFHX4_uc003yau.1_Missense_Mutation_p.E2818D|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2773D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2773						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77767611	77767611	18223	8	G	T	T	35	35	ZFHX4	T	2	2
LRRCC1	85444	broad.mit.edu	37	8	86050478	86050478	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86050478G>T	uc003ycw.2	+	16	2856	c.2702G>T	c.(2701-2703)AGT>ATT	p.S901I	LRRCC1_uc010maa.1_3'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.S808I|LRRCC1_uc003ycy.2_Missense_Mutation_p.S881I	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	901					cell division|mitosis	centriole|nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	86050478	86050478	9402	8	G	T	T	35	35	LRRCC1	T	2	2
MATN2	4147	broad.mit.edu	37	8	98943249	98943249	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98943249C>A	uc003yic.2	+	3	442	c.211C>A	c.(211-213)CAT>AAT	p.H71N	MATN2_uc003yib.1_Missense_Mutation_p.H71N|MATN2_uc010mbh.1_Missense_Mutation_p.H71N|MATN2_uc003yid.2_Missense_Mutation_p.H71N|MATN2_uc003yie.1_Missense_Mutation_p.H71N|MATN2_uc010mbi.1_5'UTR	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	71	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)															---	---	---	---	capture		Missense_Mutation	SNP	98943249	98943249	9718	8	C	A	A	21	21	MATN2	A	2	2
DCAF13	25879	broad.mit.edu	37	8	104427350	104427350	+	Silent	SNP	G	C	C	rs140179211	byFrequency	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104427350G>C	uc003yln.2	+	1	409	c.132G>C	c.(130-132)ACG>ACC	p.T44T	SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---	capture		Silent	SNP	104427350	104427350	4437	8	G	C	C	39	39	DCAF13	C	3	3
KCNV1	27012	broad.mit.edu	37	8	110984530	110984530	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110984530C>G	uc003ynr.3	-	2	1290	c.948G>C	c.(946-948)CTG>CTC	p.L316L	KCNV1_uc010mcw.2_Silent_p.L316L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	316	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)															---	---	---	---	capture		Silent	SNP	110984530	110984530	8399	8	C	G	G	25	25	KCNV1	G	3	3
CSMD3	114788	broad.mit.edu	37	8	113249469	113249469	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113249469C>A	uc003ynu.2	-	67	10736	c.10577G>T	c.(10576-10578)GGG>GTG	p.G3526V	CSMD3_uc003yns.2_Missense_Mutation_p.G2728V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3486V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3357V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3526	Extracellular (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	113249469	113249469	4087	8	C	A	A	22	22	CSMD3	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113301647	113301647	+	Nonsense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113301647G>C	uc003ynu.2	-	57	9254	c.9095C>G	c.(9094-9096)TCA>TGA	p.S3032*	CSMD3_uc003yns.2_Nonsense_Mutation_p.S2234*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S2992*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S2863*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3032	Sushi 21.|Extracellular (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		Nonsense_Mutation	SNP	113301647	113301647	4087	8	G	C	C	45	45	CSMD3	C	5	3
CSMD3	114788	broad.mit.edu	37	8	113332130	113332130	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113332130C>A	uc003ynu.2	-	46	7405	c.7246G>T	c.(7246-7248)GGT>TGT	p.G2416C	CSMD3_uc003yns.2_Missense_Mutation_p.G1618C|CSMD3_uc003ynt.2_Missense_Mutation_p.G2376C|CSMD3_uc011lhx.1_Missense_Mutation_p.G2312C|CSMD3_uc003ynw.1_Missense_Mutation_p.G127C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2416	Extracellular (Potential).|Sushi 13.					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	113332130	113332130	4087	8	C	A	A	24	24	CSMD3	A	2	2
TRPS1	7227	broad.mit.edu	37	8	116631517	116631517	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116631517C>T	uc003ynz.2	-	2	1228	c.769G>A	c.(769-771)GAT>AAT	p.D257N	TRPS1_uc011lhy.1_Missense_Mutation_p.D261N|TRPS1_uc003yny.2_Missense_Mutation_p.D270N|TRPS1_uc010mcy.2_Missense_Mutation_p.D257N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	257					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	116631517	116631517	17144	8	C	T	T	32	32	TRPS1	T	2	2
TG	7038	broad.mit.edu	37	8	134108547	134108547	+	Missense_Mutation	SNP	G	T	T	rs116726914	by1000genomes	TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134108547G>T	uc003ytw.2	+	43	7543	c.7502G>T	c.(7501-7503)TGG>TTG	p.W2501L	TG_uc010mdw.2_Missense_Mutation_p.W1260L|TG_uc011ljb.1_Missense_Mutation_p.W870L|TG_uc011ljc.1_Missense_Mutation_p.W634L|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2501					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---	capture		Missense_Mutation	SNP	134108547	134108547	16341	8	G	T	T	47	47	TG	T	2	2
SLC45A4	57210	broad.mit.edu	37	8	142228416	142228416	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142228416C>G	uc003ywd.1	-	4	1478	c.1170G>C	c.(1168-1170)CGG>CGC	p.R390R	SLC45A4_uc003ywc.1_Silent_p.R390R|SLC45A4_uc010meq.1_Silent_p.R388R	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	441					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---	capture		Silent	SNP	142228416	142228416	15140	8	C	G	G	26	26	SLC45A4	G	3	3
FLJ43860	389690	broad.mit.edu	37	8	142500272	142500272	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142500272C>A	uc003ywi.2	-	5	723	c.642G>T	c.(640-642)ACG>ACT	p.T214T	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	214							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---	capture		Silent	SNP	142500272	142500272	6170	8	C	A	A	23	23	FLJ43860	A	1	1
ZNF251	90987	broad.mit.edu	37	8	145948504	145948504	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145948504G>T	uc003zdv.3	-	5	797	c.541C>A	c.(541-543)CAA>AAA	p.Q181K		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)														---	---	---	---	capture		Missense_Mutation	SNP	145948504	145948504	18387	8	G	T	T	47	47	ZNF251	T	2	2
ZNF250	58500	broad.mit.edu	37	8	146108208	146108208	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146108208C>A	uc003zeq.3	-	6	492	c.375G>T	c.(373-375)AAG>AAT	p.K125N	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.K120N|ZNF250_uc010mgg.2_Missense_Mutation_p.K120N	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)														---	---	---	---	capture		Missense_Mutation	SNP	146108208	146108208	18386	8	C	A	A	24	24	ZNF250	A	2	2
TPD52L3	89882	broad.mit.edu	37	9	6328625	6328625	+	Silent	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6328625G>T	uc003zjw.2	+	1	251	c.30G>T	c.(28-30)GTG>GTT	p.V10V	TPD52L3_uc003zjv.2_Silent_p.V10V|TPD52L3_uc003zjx.1_Silent_p.V10V	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	protein kinase NYD-SP25 isoform 1	10							protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)														---	---	---	---	capture		Silent	SNP	6328625	6328625	16944	9	G	T	T	47	47	TPD52L3	T	2	2
PTPRD	5789	broad.mit.edu	37	9	8436665	8436665	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8436665G>T	uc003zkk.2	-	34	4724	c.4013C>A	c.(4012-4014)CCC>CAC	p.P1338H	PTPRD_uc003zkp.2_Missense_Mutation_p.P932H|PTPRD_uc003zkq.2_Missense_Mutation_p.P931H|PTPRD_uc003zkr.2_Missense_Mutation_p.P922H|PTPRD_uc003zks.2_Missense_Mutation_p.P931H|PTPRD_uc003zkl.2_Missense_Mutation_p.P1329H|PTPRD_uc003zkm.2_Missense_Mutation_p.P1325H|PTPRD_uc003zkn.2_Missense_Mutation_p.P927H|PTPRD_uc003zko.2_Missense_Mutation_p.P928H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1338	Cytoplasmic (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		Missense_Mutation	SNP	8436665	8436665	13256	9	G	T	T	43	43	PTPRD	T	2	2
TYRP1	7306	broad.mit.edu	37	9	12695714	12695714	+	Silent	SNP	A	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:12695714A>C	uc003zkv.3	+	3	763	c.585A>C	c.(583-585)TCA>TCC	p.S195S		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	195	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)										Oculocutaneous_Albinism				---	---	---	---	capture		Silent	SNP	12695714	12695714	17373	9	A	C	C	7	7	TYRP1	C	4	4
ELAVL2	1993	broad.mit.edu	37	9	23701421	23701421	+	Silent	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:23701421G>A	uc003zpu.2	-	5	944	c.669C>T	c.(667-669)AAC>AAT	p.N223N	ELAVL2_uc003zps.2_Silent_p.N223N|ELAVL2_uc003zpt.2_Silent_p.N223N|ELAVL2_uc003zpv.2_Silent_p.N223N|ELAVL2_uc003zpw.2_Silent_p.N223N	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	223					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)														---	---	---	---	capture		Silent	SNP	23701421	23701421	5241	9	G	A	A	48	48	ELAVL2	A	2	2
DNAJB5	25822	broad.mit.edu	37	9	34997198	34997198	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34997198C>A	uc003zvt.2	+	4	1127	c.989C>A	c.(988-990)CCA>CAA	p.P330Q	DNAJB5_uc003zvs.2_Missense_Mutation_p.P364Q|DNAJB5_uc011los.1_Missense_Mutation_p.P402Q	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	330					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---	capture		Missense_Mutation	SNP	34997198	34997198	4806	9	C	A	A	21	21	DNAJB5	A	2	2
HINT2	84681	broad.mit.edu	37	9	35813519	35813519	+	Nonsense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35813519G>A	uc003zyh.2	-	3	316	c.250C>T	c.(250-252)CAG>TAG	p.Q84*	SPAG8_uc003zye.2_5'Flank|SPAG8_uc003zyf.2_5'Flank|SPAG8_uc003zyg.2_5'Flank|HINT2_uc003zyi.2_Nonsense_Mutation_p.Q80*	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	PKCI-1-related HIT protein precursor	84	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity				0	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)													OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Nonsense_Mutation	SNP	35813519	35813519	7397	9	G	A	A	45	45	HINT2	A	5	2
TRPM3	80036	broad.mit.edu	37	9	73461360	73461360	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73461360C>A	uc004aid.2	-	4	854	c.610G>T	c.(610-612)GGG>TGG	p.G204W	TRPM3_uc004ahu.2_Missense_Mutation_p.G34W|TRPM3_uc004ahv.2_Missense_Mutation_p.G34W|TRPM3_uc004ahw.2_Missense_Mutation_p.G51W|TRPM3_uc004ahx.2_Missense_Mutation_p.G51W|TRPM3_uc004ahy.2_Missense_Mutation_p.G51W|TRPM3_uc004ahz.2_Missense_Mutation_p.G51W|TRPM3_uc004aia.2_Missense_Mutation_p.G51W|TRPM3_uc004aib.2_Missense_Mutation_p.G51W|TRPM3_uc004aic.2_Missense_Mutation_p.G204W|TRPM3_uc010mor.2_Missense_Mutation_p.G204W|TRPM3_uc004aie.2_Missense_Mutation_p.G51W|TRPM3_uc004aif.2_Missense_Mutation_p.G51W|TRPM3_uc004aig.2_Missense_Mutation_p.G51W|TRPM3_uc004aii.2_Missense_Mutation_p.G206W	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	204	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	73461360	73461360	17138	9	C	A	A	21	21	TRPM3	A	2	2
VPS13A	23230	broad.mit.edu	37	9	79917920	79917920	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79917920G>T	uc004akr.2	+	34	4162	c.3902G>T	c.(3901-3903)TGG>TTG	p.W1301L	VPS13A_uc004akp.3_Missense_Mutation_p.W1301L|VPS13A_uc004akq.3_Missense_Mutation_p.W1301L|VPS13A_uc004aks.2_Missense_Mutation_p.W1262L|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1301	TPR 5.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	79917920	79917920	17756	9	G	T	T	47	47	VPS13A	T	2	2
ECM2	1842	broad.mit.edu	37	9	95256390	95256390	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95256390G>A	uc004asf.3	-	10	2057	c.1907C>T	c.(1906-1908)TCA>TTA	p.S636L	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	Error:Variant_position_missing_in_O94769_after_alignment					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	95256390	95256390	5085	9	G	A	A	45	45	ECM2	A	2	2
ZNF484	83744	broad.mit.edu	37	9	95609565	95609565	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95609565C>A	uc004asu.1	-	5	1653	c.1504G>T	c.(1504-1506)GGT>TGT	p.G502C	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.G504C|ZNF484_uc010mrb.1_Missense_Mutation_p.G466C|ZNF484_uc004asv.1_Missense_Mutation_p.G466C	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	502	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	95609565	95609565	18531	9	C	A	A	21	21	ZNF484	A	2	2
KIAA1529	57653	broad.mit.edu	37	9	100124649	100124649	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100124649C>G	uc011lut.1	+	40	5150	c.4377C>G	c.(4375-4377)TTC>TTG	p.F1459L	KIAA1529_uc004axe.1_Missense_Mutation_p.F1254L|KIAA1529_uc004axg.1_Missense_Mutation_p.F1320L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.F439L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---	capture		Missense_Mutation	SNP	100124649	100124649	8549	9	C	G	G	29	29	KIAA1529	G	3	3
PPP3R2	5535	broad.mit.edu	37	9	104357046	104357046	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104357046G>A	uc004bbr.2	-	1	238	c.167C>T	c.(166-168)CCG>CTG	p.P56L	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	53	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)													---	---	---	---	capture		Missense_Mutation	SNP	104357046	104357046	12837	9	G	A	A	39	39	PPP3R2	A	1	1
TNC	3371	broad.mit.edu	37	9	117826348	117826348	+	Splice_Site	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117826348C>A	uc004bjj.3	-	12	3850	c.3488_splice	c.e12-1	p.G1163_splice	TNC_uc010mvf.2_Splice_Site_p.G1163_splice	NM_002160	NP_002151			tenascin C precursor						cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---	capture		Splice_Site	SNP	117826348	117826348	16811	9	C	A	A	24	24	TNC	A	5	2
TNC	3371	broad.mit.edu	37	9	117853072	117853072	+	Missense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117853072C>A	uc004bjj.3	-	2	588	c.226G>T	c.(226-228)GAC>TAC	p.D76Y	TNC_uc010mvf.2_Missense_Mutation_p.D76Y	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	76					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	117853072	117853072	16811	9	C	A	A	32	32	TNC	A	2	2
BAT2L1	84726	broad.mit.edu	37	9	134305587	134305587	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134305587C>T	uc004can.3	+	1	111	c.56C>T	c.(55-57)TCG>TTG	p.S19L	BAT2L1_uc004cam.1_Missense_Mutation_p.S19L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	19							protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	134305587	134305587	1341	9	C	T	T	31	31	BAT2L1	T	1	1
POMT1	10585	broad.mit.edu	37	9	134393924	134393924	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134393924G>T	uc004cav.2	+	14	1633	c.1431G>T	c.(1429-1431)AAG>AAT	p.K477N	POMT1_uc004cax.2_Missense_Mutation_p.K455N|POMT1_uc011mcj.1_Missense_Mutation_p.K233N|POMT1_uc004cau.2_Missense_Mutation_p.K455N|POMT1_uc004caw.2_Missense_Mutation_p.K401N|POMT1_uc011mck.1_Missense_Mutation_p.K338N|POMT1_uc011mcl.1_Missense_Mutation_p.K303N|POMT1_uc011mcm.1_Missense_Mutation_p.K425N|POMT1_uc011mcn.1_Missense_Mutation_p.K180N	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	477	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)														---	---	---	---	capture		Missense_Mutation	SNP	134393924	134393924	12674	9	G	T	T	35	35	POMT1	T	2	2
SETX	23064	broad.mit.edu	37	9	135204730	135204730	+	Missense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135204730G>A	uc004cbk.2	-	10	2438	c.2255C>T	c.(2254-2256)ACT>ATT	p.T752I	SETX_uc004cbj.2_Missense_Mutation_p.T371I|SETX_uc010mzt.2_Missense_Mutation_p.T371I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	752					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	135204730	135204730	14630	9	G	A	A	36	36	SETX	A	2	2
RPGR	6103	broad.mit.edu	37	X	38146439	38146439	+	Missense_Mutation	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38146439C>G	uc004ded.1	-	15	1981	c.1813G>C	c.(1813-1815)GAG>CAG	p.E605Q	RPGR_uc004deb.2_Missense_Mutation_p.E605Q|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	605	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38146439	38146439	14027	23	C	G	G	32	32	RPGR	G	3	3
NHSL2	340527	broad.mit.edu	37	X	71360443	71360443	+	Silent	SNP	C	G	G			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71360443C>G	uc011mqa.1	+	6	3045	c.3045C>G	c.(3043-3045)CTC>CTG	p.L1015L	NHSL2_uc004eak.1_Silent_p.L649L|NHSL2_uc010nli.2_Silent_p.L784L	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	1015											0	Renal(35;0.156)																	---	---	---	---	capture		Silent	SNP	71360443	71360443	10813	23	C	G	G	29	29	NHSL2	G	3	3
TGIF2LX	90316	broad.mit.edu	37	X	89177748	89177748	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:89177748G>T	uc004efe.2	+	2	713	c.664G>T	c.(664-666)GAT>TAT	p.D222Y		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	89177748	89177748	16355	23	G	T	T	37	37	TGIF2LX	T	1	1
PCDH11X	27328	broad.mit.edu	37	X	91133967	91133967	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91133967G>T	uc004efk.1	+	2	3573	c.2728G>T	c.(2728-2730)GAT>TAT	p.D910Y	PCDH11X_uc004efl.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D910Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D910Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	910	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	91133967	91133967	11928	23	G	T	T	45	45	PCDH11X	T	2	2
CENPI	2491	broad.mit.edu	37	X	100357267	100357267	+	Silent	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100357267C>A	uc004egx.2	+	3	501	c.231C>A	c.(229-231)CCC>CCA	p.P77P	CENPI_uc011mrg.1_Silent_p.P77P|CENPI_uc004egy.2_Silent_p.P77P	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	77					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	100357267	100357267	3366	23	C	A	A	21	21	CENPI	A	2	2
BTK	695	broad.mit.edu	37	X	100611126	100611126	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100611126G>T	uc004ehg.2	-	15	1673	c.1480C>A	c.(1480-1482)CAG>AAG	p.Q494K	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.Q64K|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.Q528K|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.Q494K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	494	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6														Agammaglobulinemia_X-linked				---	---	---	---	capture		Missense_Mutation	SNP	100611126	100611126	1591	23	G	T	T	47	47	BTK	T	2	2
IRS4	8471	broad.mit.edu	37	X	107977075	107977075	+	Missense_Mutation	SNP	C	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107977075C>T	uc004eoc.2	-	1	2533	c.2500G>A	c.(2500-2502)GGA>AGA	p.G834R		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	834						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		Missense_Mutation	SNP	107977075	107977075	8146	23	C	T	T	21	21	IRS4	T	2	2
PAK3	5063	broad.mit.edu	37	X	110439768	110439768	+	Missense_Mutation	SNP	G	C	C			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110439768G>C	uc004epa.2	+	13	1379	c.1352G>C	c.(1351-1353)CGA>CCA	p.R451P	PAK3_uc010npt.1_Missense_Mutation_p.R436P|PAK3_uc010npu.1_Missense_Mutation_p.R436P|PAK3_uc004eoy.1_Missense_Mutation_p.R191P|PAK3_uc004eoz.2_Missense_Mutation_p.R436P|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.R472P|PAK3_uc010npw.1_Missense_Mutation_p.R457P	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	451	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10															TSP Lung(19;0.15)			---	---	---	---	capture		Missense_Mutation	SNP	110439768	110439768	11818	23	G	C	C	37	37	PAK3	C	3	3
KIAA1210	57481	broad.mit.edu	37	X	118220998	118220998	+	Nonsense_Mutation	SNP	C	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118220998C>A	uc004era.3	-	11	4195	c.4195G>T	c.(4195-4197)GGA>TGA	p.G1399*		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1399										ovary(4)|skin(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	118220998	118220998	8522	23	C	A	A	24	24	KIAA1210	A	5	2
PHF6	84295	broad.mit.edu	37	X	133512083	133512083	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133512083G>T	uc004exj.2	+	3	389	c.187G>T	c.(187-189)GGT>TGT	p.G63C	PHF6_uc004exk.2_Missense_Mutation_p.G63C|PHF6_uc011mvk.1_Intron|PHF6_uc004exh.2_Missense_Mutation_p.G63C|PHF6_uc010nrr.2_Missense_Mutation_p.G63C|PHF6_uc004exi.2_Missense_Mutation_p.G63C	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	133512083	133512083	12261	23	G	T	T	47	47	PHF6	T	2	2
MTM1	4534	broad.mit.edu	37	X	149832039	149832039	+	Missense_Mutation	SNP	G	T	T			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149832039G>T	uc004fef.3	+	14	1677	c.1601G>T	c.(1600-1602)TGG>TTG	p.W534L	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.W497L|MTM1_uc011mxz.1_Missense_Mutation_p.W419L|MTM1_uc010nte.2_Missense_Mutation_p.W402L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	534	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	149832039	149832039	10330	23	G	T	T	47	47	MTM1	T	2	2
SRY	6736	broad.mit.edu	37	Y	2655257	2655257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-37-3789-01	TCGA-37-3789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:2655257G>A	uc004fqg.1	-	1	536	c.388C>T	c.(388-390)CGA>TGA	p.R130*		NM_003140	NP_003131	Q05066	SRY_HUMAN	sex determining region Y	130	Sufficient for interaction with EP300.|Required for nuclear localization.|Sufficient for interaction with KPNB1.				cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0														Swyer_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	2655257	2655257	15689	24	G	A	A	37	37	SRY	A	5	1
