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
HBE1	3046	broad.mit.edu	37	11	5289800	5289801	+	Missense_Mutation	DNP	GA	TG	TG			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5289800_5289801GA>TG	uc001mal.1	-	3	595_596	c.342_343TC>CA	c.(340-345)ATTCTG>ATCATG	p.L115M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.L115M	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	115					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	DNP	5289800	5289801	7262	11	GA	TG	TG	33	33	HBE1	TG	2	2
GRM5	2915	broad.mit.edu	37	11	88780992	88780993	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88780992_88780993GG>AT	uc001pcq.2	-	1	248_249	c.48_49CC>AT	c.(46-51)GTCCGT>GTATGT	p.R17C	GRM5_uc009yvm.2_Missense_Mutation_p.R17C|GRM5_uc009yvn.1_Missense_Mutation_p.R17C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	17					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---	capture		Missense_Mutation	DNP	88780992	88780993	7079	11	GG	AT	AT	39	39	GRM5	AT	1	1
ATP6V0A2	23545	broad.mit.edu	37	12	124242547	124242548	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124242547_124242548TC>AT	uc001ufr.2	+	20	2787_2788	c.2539_2540TC>AT	c.(2539-2541)TCA>ATA	p.S847I		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	847	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---	capture		Missense_Mutation	DNP	124242547	124242548	1188	12	TC	AT	AT	50	50	ATP6V0A2	AT	4	4
CHD8	57680	broad.mit.edu	37	14	21876521	21876522	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21876521_21876522CC>AA	uc001was.1	-	13	1936_1937	c.1842_1843GG>TT	c.(1840-1845)CTGGCC>CTTTCC	p.A615S	CHD8_uc001war.1_Missense_Mutation_p.A511S|CHD8_uc001wav.1_Missense_Mutation_p.A57S	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	894	Helicase ATP-binding.				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		Missense_Mutation	DNP	21876521	21876522	3465	14	CC	AA	AA	26	26	CHD8	AA	2	2
NFATC1	4772	broad.mit.edu	37	18	77221349	77221350	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77221349_77221350CG>AT	uc010xfg.1	+	7	2395_2396	c.1942_1943CG>AT	c.(1942-1944)CGG>ATG	p.R648M	NFATC1_uc002lnc.1_Missense_Mutation_p.R648M|NFATC1_uc010xff.1_Missense_Mutation_p.G620W|NFATC1_uc002lnd.2_Missense_Mutation_p.R648M|NFATC1_uc002lne.2_Missense_Mutation_p.R176M|NFATC1_uc010xfh.1_Missense_Mutation_p.R648M|NFATC1_uc010xfi.1_Missense_Mutation_p.R635M|NFATC1_uc010xfj.1_Missense_Mutation_p.R176M|NFATC1_uc002lnf.2_Missense_Mutation_p.R635M|NFATC1_uc002lng.2_Missense_Mutation_p.R635M|NFATC1_uc010xfk.1_Missense_Mutation_p.R635M	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	648					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---	capture		Missense_Mutation	DNP	77221349	77221350	10761	18	CG	AT	AT	23	23	NFATC1	AT	1	1
NTSR2	23620	broad.mit.edu	37	2	11809674	11809675	+	Nonsense_Mutation	DNP	GC	TT	TT			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11809674_11809675GC>TT	uc002rbq.3	-	1	655_656	c.581_582GC>AA	c.(580-582)TGC>TAA	p.C194*		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	194	Extracellular (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)													---	---	---	---	capture		Nonsense_Mutation	DNP	11809674	11809675	11116	2	GC	TT	TT	46	46	NTSR2	TT	5	2
COL6A6	131873	broad.mit.edu	37	3	130293249	130293250	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130293249_130293250CA>AG	uc010htl.2	+	7	3458_3459	c.3427_3428CA>AG	c.(3427-3429)CAG>AGG	p.Q1143R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1143	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---	capture		Missense_Mutation	DNP	130293249	130293250	3841	3	CA	AG	AG	21	21	COL6A6	AG	2	2
COL11A1	1301	broad.mit.edu	37	1	103468777	103468777	+	Frame_Shift_Del	DEL	C	-	-			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103468777delC	uc001dul.2	-	21	2310	c.1992delG	c.(1990-1992)GGGfs	p.G664fs	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Frame_Shift_Del_p.G676fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.G625fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.G548fs	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	664	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	103468777	103468777	3805	1	C	-	-	26	26	COL11A1	-	5	5
GOLGA3	2802	broad.mit.edu	37	12	133384974	133384974	+	Frame_Shift_Del	DEL	C	-	-			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133384974delC	uc001ukz.1	-	5	1240	c.681delG	c.(679-681)GGGfs	p.G227fs	GOLGA3_uc001ula.1_Frame_Shift_Del_p.G227fs|GOLGA3_uc001ulb.2_Frame_Shift_Del_p.G227fs	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	227	Golgi-targeting domain.				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_indel		Frame_Shift_Del	DEL	133384974	133384974	6823	12	C	-	-	26	26	GOLGA3	-	5	5
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	TG	TG	rs142406301	by1000genomes	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73626918_73626919insTG	uc010dgl.2	-	12	1742	c.1586_splice	c.e12-1	p.D529_splice	RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250			RecQ protein-like 5 isoform 1						DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)										Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---	capture_indel		Splice_Site	INS	73626918	73626919	13672	17	-	TG	TG	32	32	RECQL5	TG	5	5
TTN	7273	broad.mit.edu	37	2	179669357	179669357	+	Frame_Shift_Del	DEL	C	-	-			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179669357delC	uc002und.2	-	2	238	c.13delG	c.(13-15)GCAfs	p.A5fs	TTN_uc010zfg.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfh.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfi.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfj.1_Frame_Shift_Del_p.A5fs|TTN_uc002unb.2_Frame_Shift_Del_p.A5fs			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	5							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture_indel		Frame_Shift_Del	DEL	179669357	179669357	17290	2	C	-	-	28	28	TTN	-	5	5
KIAA1486	57624	broad.mit.edu	37	2	226273811	226273818	+	Splice_Site	DEL	TAAAGCGG	-	-			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226273811_226273818delTAAAGCGG	uc002voe.2	+	2	396	c.221_splice	c.e2+1	p.R74_splice	KIAA1486_uc010fxa.1_Splice_Site_p.R69_splice	NM_020864	NP_065915			hypothetical protein LOC57624											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_indel		Splice_Site	DEL	226273811	226273818	8546	2	TAAAGCGG	-	-	49	49	KIAA1486	-	5	5
PRKCZ	5590	broad.mit.edu	37	1	2077516	2077516	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2077516C>T	uc001aiq.2	+	7	764	c.603C>T	c.(601-603)GAC>GAT	p.D201D	PRKCZ_uc001air.2_Silent_p.D18D|PRKCZ_uc010nyw.1_Silent_p.D97D|PRKCZ_uc001ais.2_Silent_p.D18D|PRKCZ_uc009vla.2_Silent_p.D25D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.D14D	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	201					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)														---	---	---	---	capture		Silent	SNP	2077516	2077516	12960	1	C	T	T	19	19	PRKCZ	T	1	1
AGTRAP	57085	broad.mit.edu	37	1	11807558	11807558	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11807558G>A	uc001asv.2	+	3	248	c.124G>A	c.(124-126)GTG>ATG	p.V42M	AGTRAP_uc001ast.2_Missense_Mutation_p.R74H|AGTRAP_uc001asu.2_Missense_Mutation_p.R74H|AGTRAP_uc001asw.2_Missense_Mutation_p.V42M|AGTRAP_uc001asx.2_Missense_Mutation_p.R30H	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	42	Helical; (Potential).					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	stomach(2)	2	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	11807558	11807558	406	1	G	A	A	40	40	AGTRAP	A	1	1
RNF186	54546	broad.mit.edu	37	1	20141183	20141183	+	Nonsense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20141183C>A	uc001bcr.2	-	1	589	c.412G>T	c.(412-414)GGA>TGA	p.G138*		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	ring finger protein 186	138						integral to membrane	zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	20141183	20141183	13946	1	C	A	A	22	22	RNF186	A	5	2
GPATCH3	63906	broad.mit.edu	37	1	27226883	27226883	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27226883C>T	uc001bne.2	-	1	80	c.51G>A	c.(49-51)GTG>GTA	p.V17V	GPATCH3_uc009vsp.1_5'UTR	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	17						intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Silent	SNP	27226883	27226883	6866	1	C	T	T	29	29	GPATCH3	T	2	2
LEPR	3953	broad.mit.edu	37	1	66087122	66087122	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66087122T>A	uc001dci.2	+	18	2780	c.2578T>A	c.(2578-2580)TTA>ATA	p.L860I	LEPR_uc001dcg.2_Missense_Mutation_p.L860I|LEPR_uc001dch.2_Missense_Mutation_p.L860I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L860I|LEPR_uc001dck.2_Missense_Mutation_p.L860I	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	860	Helical; (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---	capture		Missense_Mutation	SNP	66087122	66087122	9052	1	T	A	A	52	52	LEPR	A	4	4
RBMXL1	494115	broad.mit.edu	37	1	89448597	89448597	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89448597C>A	uc009wcx.2	-	3	1629	c.913G>T	c.(913-915)GGT>TGT	p.G305C	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.G305C	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	305	Ser-rich.						nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	89448597	89448597	13615	1	C	A	A	21	21	RBMXL1	A	2	2
SLC30A7	148867	broad.mit.edu	37	1	101383663	101383663	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101383663C>A	uc001dtn.2	+	7	873	c.686C>A	c.(685-687)CCC>CAC	p.P229H	SLC30A7_uc001dto.2_Missense_Mutation_p.P229H	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	229	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	101383663	101383663	15057	1	C	A	A	22	22	SLC30A7	A	2	2
WARS2	10352	broad.mit.edu	37	1	119575589	119575589	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119575589T>C	uc001ehn.2	-	6	1056	c.1028A>G	c.(1027-1029)AAA>AGA	p.K343R	WARS2_uc010oxf.1_Missense_Mutation_p.K249R|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.K286R|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	343					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)													---	---	---	---	capture		Missense_Mutation	SNP	119575589	119575589	17822	1	T	C	C	64	64	WARS2	C	4	4
FLG	2312	broad.mit.edu	37	1	152280813	152280813	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152280813C>G	uc001ezu.1	-	3	6585	c.6549G>C	c.(6547-6549)CAG>CAC	p.Q2183H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2183	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	152280813	152280813	6160	1	C	G	G	20	20	FLG	G	3	3
SPTA1	6708	broad.mit.edu	37	1	158651325	158651325	+	Nonsense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158651325C>A	uc001fst.1	-	4	722	c.523G>T	c.(523-525)GGA>TGA	p.G175*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	175	Spectrin 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---	capture		Nonsense_Mutation	SNP	158651325	158651325	15630	1	C	A	A	21	21	SPTA1	A	5	2
DARC	2532	broad.mit.edu	37	1	159175318	159175318	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159175318A>G	uc001fto.2	+	2	329	c.89A>G	c.(88-90)TAT>TGT	p.Y30C	DARC_uc001ftp.3_Missense_Mutation_p.Y32C	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	30	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)																	---	---	---	---	capture		Missense_Mutation	SNP	159175318	159175318	4407	1	A	G	G	16	16	DARC	G	4	4
IGSF9	57549	broad.mit.edu	37	1	159897217	159897217	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159897217C>T	uc001fur.2	-	21	3656	c.3458G>A	c.(3457-3459)CGC>CAC	p.R1153H	IGSF9_uc001fuq.2_Missense_Mutation_p.R1137H|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.R299H	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	1153	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---	capture		Missense_Mutation	SNP	159897217	159897217	7906	1	C	T	T	27	27	IGSF9	T	1	1
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254154	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161254154G>A	uc001gad.2	+	3	338	c.90G>A	c.(88-90)GCG>GCA	p.A30A		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	30											0	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---	capture		Silent	SNP	161254154	161254154	12019	1	G	A	A	39	39	PCP4L1	A	1	1
RXRG	6258	broad.mit.edu	37	1	165376129	165376129	+	Silent	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165376129A>G	uc001gda.2	-	9	1464	c.1164T>C	c.(1162-1164)TCT>TCC	p.S388S		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	388	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)													---	---	---	---	capture		Silent	SNP	165376129	165376129	14245	1	A	G	G	7	7	RXRG	G	4	4
RXRG	6258	broad.mit.edu	37	1	165386326	165386326	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165386326G>A	uc001gda.2	-	4	874	c.574C>T	c.(574-576)CAG>TAG	p.Q192*		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	192	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)													---	---	---	---	capture		Nonsense_Mutation	SNP	165386326	165386326	14245	1	G	A	A	47	47	RXRG	A	5	2
RC3H1	149041	broad.mit.edu	37	1	173931198	173931198	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173931198G>A	uc001gju.3	-	11	1954	c.1867C>T	c.(1867-1869)CGC>TGC	p.R623C	RC3H1_uc010pms.1_Missense_Mutation_p.R623C|RC3H1_uc001gjv.2_Missense_Mutation_p.R623C|RC3H1_uc010pmt.1_Missense_Mutation_p.R623C	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	623	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	173931198	173931198	13635	1	G	A	A	39	39	RC3H1	A	1	1
TNR	7143	broad.mit.edu	37	1	175355405	175355405	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175355405C>A	uc001gkp.1	-	6	1621	c.1540G>T	c.(1540-1542)GAT>TAT	p.D514Y	TNR_uc009wwu.1_Missense_Mutation_p.D514Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	514	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---	capture		Missense_Mutation	SNP	175355405	175355405	16879	1	C	A	A	31	31	TNR	A	1	1
FAM5B	57795	broad.mit.edu	37	1	177225101	177225101	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177225101G>C	uc001glf.2	+	3	628	c.316G>C	c.(316-318)GAC>CAC	p.D106H	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	106						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	177225101	177225101	5816	1	G	C	C	41	41	FAM5B	C	3	3
HMCN1	83872	broad.mit.edu	37	1	186034406	186034406	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186034406G>T	uc001grq.1	+	49	7779	c.7550G>T	c.(7549-7551)GGG>GTG	p.G2517V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2517	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Missense_Mutation	SNP	186034406	186034406	7511	1	G	T	T	43	43	HMCN1	T	2	2
PLA2G4A	5321	broad.mit.edu	37	1	186919850	186919850	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186919850C>G	uc001gsc.2	+	13	1531	c.1326C>G	c.(1324-1326)CAC>CAG	p.H442Q	PLA2G4A_uc010pos.1_Missense_Mutation_p.H382Q	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	442	PLA2c.		H -> Q (in a breast cancer sample; somatic mutation).		phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.H442Q(1)		lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---	capture		Missense_Mutation	SNP	186919850	186919850	12427	1	C	G	G	19	19	PLA2G4A	G	3	3
PLXNA2	5362	broad.mit.edu	37	1	208219238	208219238	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208219238C>T	uc001hgz.2	-	18	4238	c.3480G>A	c.(3478-3480)TCG>TCA	p.S1160S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1160	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---	capture		Silent	SNP	208219238	208219238	12546	1	C	T	T	27	27	PLXNA2	T	1	1
USH2A	7399	broad.mit.edu	37	1	216500970	216500970	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216500970G>A	uc001hku.1	-	5	1198	c.811C>T	c.(811-813)CAA>TAA	p.Q271*	USH2A_uc001hkv.2_Nonsense_Mutation_p.Q271*	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	271	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Nonsense_Mutation	SNP	216500970	216500970	17598	1	G	A	A	46	46	USH2A	A	5	2
ACBD3	64746	broad.mit.edu	37	1	226352579	226352579	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226352579C>A	uc001hpy.2	-	3	527	c.480G>T	c.(478-480)GAG>GAT	p.E160D		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	160	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)														---	---	---	---	capture		Missense_Mutation	SNP	226352579	226352579	124	1	C	A	A	20	20	ACBD3	A	2	2
ACTA1	58	broad.mit.edu	37	1	229567639	229567639	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229567639C>A	uc001htm.2	-	6	924	c.819G>T	c.(817-819)TCG>TCT	p.S273S		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	273					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)													---	---	---	---	capture		Silent	SNP	229567639	229567639	192	1	C	A	A	23	23	ACTA1	A	1	1
EXO1	9156	broad.mit.edu	37	1	242021897	242021897	+	Silent	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242021897G>C	uc001hzh.2	+	8	1173	c.633G>C	c.(631-633)ACG>ACC	p.T211T	EXO1_uc001hzi.2_Silent_p.T211T|EXO1_uc001hzj.2_Silent_p.T211T|EXO1_uc009xgq.2_Silent_p.T211T	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	211	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---	capture		Silent	SNP	242021897	242021897	5493	1	G	C	C	39	39	EXO1	C	3	3
ZNF238	10472	broad.mit.edu	37	1	244218625	244218625	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244218625G>A	uc001iae.2	+	1	2044	c.1522G>A	c.(1522-1524)GTC>ATC	p.V508I	ZNF238_uc001iad.3_Missense_Mutation_p.V517I|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	508					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---	capture		Missense_Mutation	SNP	244218625	244218625	18381	1	G	A	A	48	48	ZNF238	A	2	2
GTPBP4	23560	broad.mit.edu	37	10	1061748	1061748	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1061748G>A	uc001ift.2	+	16	1735	c.1664G>A	c.(1663-1665)CGG>CAG	p.R555Q	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R439Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R508Q	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	555					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	1061748	1061748	7162	10	G	A	A	39	39	GTPBP4	A	1	1
WAC	51322	broad.mit.edu	37	10	28900818	28900818	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28900818G>A	uc001iuf.2	+	10	1489	c.1404G>A	c.(1402-1404)TTG>TTA	p.L468L	WAC_uc001iud.2_Silent_p.L423L|WAC_uc001iue.2_Silent_p.L158L|WAC_uc001iug.2_Silent_p.L365L|WAC_uc001iuh.2_Silent_p.L420L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	468					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Silent	SNP	28900818	28900818	17819	10	G	A	A	45	45	WAC	A	2	2
ZEB1	6935	broad.mit.edu	37	10	31803581	31803581	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31803581T>C	uc001ivs.3	+	6	798	c.735T>C	c.(733-735)TGT>TGC	p.C245C	ZEB1_uc001ivr.3_Silent_p.C27C|ZEB1_uc010qee.1_Silent_p.C27C|ZEB1_uc010qef.1_Silent_p.C27C|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Silent_p.C171C|ZEB1_uc010qeg.1_Silent_p.C104C|ZEB1_uc009xlk.1_Silent_p.C27C|ZEB1_uc001ivt.3_Silent_p.C27C|ZEB1_uc001ivu.3_Silent_p.C246C|ZEB1_uc001ivv.3_Silent_p.C225C|ZEB1_uc010qeh.1_Silent_p.C178C|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Silent_p.C228C|ZEB1_uc009xlp.2_Silent_p.C229C	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	245	C2H2-type 3.				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---	capture		Silent	SNP	31803581	31803581	18211	10	T	C	C	59	59	ZEB1	C	4	4
PRKG1	5592	broad.mit.edu	37	10	53814260	53814260	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53814260G>T	uc001jjm.2	+	6	928	c.734G>T	c.(733-735)GGA>GTA	p.G245V	PRKG1_uc001jjn.2_Missense_Mutation_p.G260V|PRKG1_uc001jjo.2_Missense_Mutation_p.G260V|PRKG1_uc009xow.1_5'UTR	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	245	cGMP 2.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	53814260	53814260	12965	10	G	T	T	41	41	PRKG1	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55955514	55955514	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55955514C>T	uc001jju.1	-	11	1629	c.1234G>A	c.(1234-1236)GCA>ACA	p.A412T	PCDH15_uc010qhq.1_Missense_Mutation_p.A417T|PCDH15_uc010qhr.1_Missense_Mutation_p.A412T|PCDH15_uc010qhs.1_Missense_Mutation_p.A417T|PCDH15_uc010qht.1_Missense_Mutation_p.A412T|PCDH15_uc010qhu.1_Missense_Mutation_p.A412T|PCDH15_uc001jjv.1_Missense_Mutation_p.A390T|PCDH15_uc010qhv.1_Missense_Mutation_p.A412T|PCDH15_uc010qhw.1_Missense_Mutation_p.A375T|PCDH15_uc010qhx.1_Missense_Mutation_p.A412T|PCDH15_uc010qhy.1_Missense_Mutation_p.A417T|PCDH15_uc010qhz.1_Missense_Mutation_p.A412T|PCDH15_uc010qia.1_Missense_Mutation_p.A390T|PCDH15_uc010qib.1_Missense_Mutation_p.A390T|PCDH15_uc001jjw.2_Missense_Mutation_p.A412T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	412	Cadherin 4.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	55955514	55955514	11931	10	C	T	T	28	28	PCDH15	T	2	2
FAM13C	220965	broad.mit.edu	37	10	61022302	61022302	+	Silent	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61022302C>G	uc001jkn.2	-	11	1262	c.1128G>C	c.(1126-1128)CCG>CCC	p.P376P	FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Silent_p.P293P|FAM13C_uc010qie.1_Silent_p.P293P|FAM13C_uc010qif.1_Silent_p.P398P|FAM13C_uc001jkp.2_Silent_p.P293P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	376										ovary(2)	2																		---	---	---	---	capture		Silent	SNP	61022302	61022302	5651	10	C	G	G	23	23	FAM13C	G	3	3
PIK3AP1	118788	broad.mit.edu	37	10	98369517	98369517	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98369517C>T	uc001kmq.2	-	14	2250	c.2122G>A	c.(2122-2124)GAG>AAG	p.E708K	PIK3AP1_uc001kmo.2_Missense_Mutation_p.E307K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E530K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	708						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)														---	---	---	---	capture		Missense_Mutation	SNP	98369517	98369517	12332	10	C	T	T	30	30	PIK3AP1	T	2	2
PPRC1	23082	broad.mit.edu	37	10	103898705	103898705	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103898705G>A	uc001kum.2	+	4	598	c.559G>A	c.(559-561)GGG>AGG	p.G187R	PPRC1_uc001kun.2_Missense_Mutation_p.G67R|PPRC1_uc010qqj.1_Missense_Mutation_p.G187R|PPRC1_uc009xxa.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)														---	---	---	---	capture		Missense_Mutation	SNP	103898705	103898705	12846	10	G	A	A	43	43	PPRC1	A	2	2
NOLC1	9221	broad.mit.edu	37	10	103921618	103921618	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103921618G>T	uc001kuo.2	+	12	2112	c.1877G>T	c.(1876-1878)CGA>CTA	p.R626L	NOLC1_uc001kup.2_Missense_Mutation_p.R636L|NOLC1_uc001kuq.2_Missense_Mutation_p.R627L|NOLC1_uc009xxb.1_Missense_Mutation_p.R345L|NOLC1_uc001kur.2_Missense_Mutation_p.R345L	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	626					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---	capture		Missense_Mutation	SNP	103921618	103921618	10932	10	G	T	T	37	37	NOLC1	T	1	1
ZDHHC6	64429	broad.mit.edu	37	10	114202056	114202056	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114202056T>A	uc001kzv.2	-	4	837	c.413A>T	c.(412-414)TAC>TTC	p.Y138F	ZDHHC6_uc001kzw.2_Missense_Mutation_p.Y134F|ZDHHC6_uc009xya.1_Missense_Mutation_p.Y138F	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	138	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	114202056	114202056	18207	10	T	A	A	57	57	ZDHHC6	A	4	4
NRAP	4892	broad.mit.edu	37	10	115388679	115388679	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115388679G>C	uc001laj.2	-	20	2306	c.2142C>G	c.(2140-2142)AGC>AGG	p.S714R	NRAP_uc009xyb.2_Missense_Mutation_p.S25R|NRAP_uc001lak.2_Missense_Mutation_p.S679R|NRAP_uc001lal.3_Missense_Mutation_p.S714R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	714	Nebulin 17.					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	115388679	115388679	11043	10	G	C	C	38	38	NRAP	C	3	3
HSPA12A	259217	broad.mit.edu	37	10	118451897	118451897	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118451897G>A	uc001lct.2	-	6	733	c.628C>T	c.(628-630)CCG>TCG	p.P210S	HSPA12A_uc001lcu.2_Missense_Mutation_p.P127S	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	210							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---	capture		Missense_Mutation	SNP	118451897	118451897	7703	10	G	A	A	42	42	HSPA12A	A	2	2
SEC23IP	11196	broad.mit.edu	37	10	121658165	121658165	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121658165G>A	uc001leu.1	+	2	462	c.390G>A	c.(388-390)TCG>TCA	p.S130S	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	130	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)														---	---	---	---	capture		Silent	SNP	121658165	121658165	14479	10	G	A	A	37	37	SEC23IP	A	1	1
MUC5B	727897	broad.mit.edu	37	11	1273591	1273591	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1273591A>T	uc009ycr.1	+	53	15974	c.15848A>T	c.(15847-15849)AAG>ATG	p.K5283M	MUC5B_uc001ltb.2_Missense_Mutation_p.K4964M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4961					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	1273591	1273591	10373	11	A	T	T	3	3	MUC5B	T	4	4
CTSD	1509	broad.mit.edu	37	11	1774798	1774798	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1774798G>A	uc001luc.1	-	9	1307	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	uc001lub.1_5'Flank|CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	392					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Missense_Mutation	SNP	1774798	1774798	4191	11	G	A	A	39	39	CTSD	A	1	1
OR52R1	119695	broad.mit.edu	37	11	4825550	4825550	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4825550G>T	uc010qym.1	-	1	298	c.298C>A	c.(298-300)CCA>ACA	p.P100T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4825550	4825550	11541	11	G	T	T	43	43	OR52R1	T	2	2
OR51A7	119687	broad.mit.edu	37	11	4929170	4929170	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4929170G>A	uc010qyq.1	+	1	571	c.571G>A	c.(571-573)GAC>AAC	p.D191N		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	191	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;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4929170	4929170	11498	11	G	A	A	45	45	OR51A7	A	2	2
OR52J3	119679	broad.mit.edu	37	11	5068359	5068359	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5068359C>A	uc010qyv.1	+	1	604	c.604C>A	c.(604-606)CTT>ATT	p.L202I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	5068359	5068359	11532	11	C	A	A	28	28	OR52J3	A	2	2
HBD	3045	broad.mit.edu	37	11	5255338	5255338	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5255338C>A	uc001maf.1	-	2	393	c.198G>T	c.(196-198)AAG>AAT	p.K66N		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	66					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5255338	5255338	7261	11	C	A	A	32	32	HBD	A	2	2
NLRP14	338323	broad.mit.edu	37	11	7059848	7059848	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7059848C>T	uc001mfb.1	+	2	354	c.31C>T	c.(31-33)CCT>TCT	p.P11S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	11	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---	capture		Missense_Mutation	SNP	7059848	7059848	10879	11	C	T	T	30	30	NLRP14	T	2	2
PLEKHA7	144100	broad.mit.edu	37	11	16812380	16812380	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16812380C>A	uc001mmo.2	-	21	3032	c.3017G>T	c.(3016-3018)GGC>GTC	p.G1006V	PLEKHA7_uc010rcu.1_Missense_Mutation_p.G1007V|PLEKHA7_uc001mmm.2_Missense_Mutation_p.G109V|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G581V|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G715V	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	1006					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	16812380	16812380	12487	11	C	A	A	26	26	PLEKHA7	A	2	2
KCNA4	3739	broad.mit.edu	37	11	30033008	30033008	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30033008G>A	uc001msk.2	-	2	2370	c.1218C>T	c.(1216-1218)ATC>ATT	p.I406I		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	406	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	30033008	30033008	8310	11	G	A	A	45	45	KCNA4	A	2	2
C11orf74	119710	broad.mit.edu	37	11	36680701	36680701	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36680701G>A	uc001mwy.1	+	6	704	c.631G>A	c.(631-633)GAC>AAC	p.D211N	C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.D137N|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Missense_Mutation_p.D137N|C11orf74_uc010rfe.1_Intron	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	hypothetical protein LOC119710	211											0	all_lung(20;0.226)	all_hematologic(20;0.0118)																---	---	---	---	capture		Missense_Mutation	SNP	36680701	36680701	1701	11	G	A	A	41	41	C11orf74	A	2	2
HSD17B12	51144	broad.mit.edu	37	11	43772487	43772487	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43772487G>T	uc001mxq.3	+	2	422	c.187G>T	c.(187-189)GGA>TGA	p.G63*	HSD17B12_uc001mxp.2_RNA	NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	63	NADP (By similarity).				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	43772487	43772487	7676	11	G	T	T	47	47	HSD17B12	T	5	2
ACCSL	390110	broad.mit.edu	37	11	44076801	44076801	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44076801G>C	uc001mxw.1	+	9	1155	c.1099G>C	c.(1099-1101)GAT>CAT	p.D367H	ACCSL_uc009ykr.2_Missense_Mutation_p.D186H	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	367							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	44076801	44076801	135	11	G	C	C	45	45	ACCSL	C	3	3
SYT13	57586	broad.mit.edu	37	11	45265772	45265772	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45265772G>A	uc001myq.2	-	6	1238	c.1112C>T	c.(1111-1113)GCC>GTC	p.A371V	SYT13_uc009yku.1_Missense_Mutation_p.A227V	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	371	C2 2.|Cytoplasmic (Potential).					transport vesicle				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45265772	45265772	15990	11	G	A	A	42	42	SYT13	A	2	2
PHF21A	51317	broad.mit.edu	37	11	46001392	46001392	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46001392C>A	uc001ncc.3	-	6	903	c.279G>T	c.(277-279)CAG>CAT	p.Q93H	PHF21A_uc001ncb.3_Missense_Mutation_p.Q93H|PHF21A_uc009ykx.2_Missense_Mutation_p.Q93H|PHF21A_uc001nce.2_Missense_Mutation_p.Q93H	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	93	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	46001392	46001392	12256	11	C	A	A	28	28	PHF21A	A	2	2
CHRM4	1132	broad.mit.edu	37	11	46408056	46408056	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46408056G>A	uc001nct.1	-	1	52	c.52C>T	c.(52-54)CTG>TTG	p.L18L		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	18	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)													---	---	---	---	capture		Silent	SNP	46408056	46408056	3513	11	G	A	A	35	35	CHRM4	A	2	2
OR4C12	283093	broad.mit.edu	37	11	50003423	50003423	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:50003423G>T	uc010ria.1	-	1	615	c.615C>A	c.(613-615)TGC>TGA	p.C205*		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	50003423	50003423	11452	11	G	T	T	34	34	OR4C12	T	5	2
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51411541C>G	uc001nhi.1	-	1	855	c.855G>C	c.(853-855)ACG>ACC	p.T285T		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---	capture		Silent	SNP	51411541	51411541	11449	11	C	G	G	19	19	OR4A5	G	3	3
OR4A16	81327	broad.mit.edu	37	11	55111131	55111131	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55111131T>A	uc010rie.1	+	1	455	c.455T>A	c.(454-456)GTG>GAG	p.V152E		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	55111131	55111131	11447	11	T	A	A	59	59	OR4A16	A	4	4
OR4C11	219429	broad.mit.edu	37	11	55371078	55371078	+	Missense_Mutation	SNP	G	T	T	rs140582621	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55371078G>T	uc010rii.1	-	1	772	c.772C>A	c.(772-774)CGC>AGC	p.R258S		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	55371078	55371078	11451	11	G	T	T	40	40	OR4C11	T	1	1
OR4P4	81300	broad.mit.edu	37	11	55406052	55406052	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55406052C>A	uc010rij.1	+	1	219	c.219C>A	c.(217-219)TCC>TCA	p.S73S		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	55406052	55406052	11490	11	C	A	A	21	21	OR4P4	A	2	2
OR4C6	219432	broad.mit.edu	37	11	55432749	55432749	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55432749C>A	uc001nht.3	+	3	372	c.107C>A	c.(106-108)ACA>AAA	p.T36K	OR4C6_uc010rik.1_Missense_Mutation_p.T36K	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55432749	55432749	11459	11	C	A	A	17	17	OR4C6	A	2	2
OR5F1	338674	broad.mit.edu	37	11	55761812	55761812	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761812C>A	uc010riv.1	-	1	290	c.290G>T	c.(289-291)TGC>TTC	p.C97F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	55761812	55761812	11568	11	C	A	A	25	25	OR5F1	A	2	2
CTNND1	1500	broad.mit.edu	37	11	57571193	57571193	+	Silent	SNP	T	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57571193T>G	uc001nmc.3	+	8	2092	c.1521T>G	c.(1519-1521)GGT>GGG	p.G507G	CTNND1_uc001nlh.1_Silent_p.G507G|CTNND1_uc001nlu.3_Silent_p.G406G|CTNND1_uc001nlt.3_Silent_p.G406G|CTNND1_uc001nls.3_Silent_p.G406G|CTNND1_uc001nlw.3_Silent_p.G406G|CTNND1_uc001nmf.3_Silent_p.G507G|CTNND1_uc001nmd.3_Silent_p.G453G|CTNND1_uc001nlk.3_Silent_p.G453G|CTNND1_uc001nme.3_Silent_p.G507G|CTNND1_uc001nll.3_Silent_p.G453G|CTNND1_uc001nmg.3_Silent_p.G453G|CTNND1_uc001nlj.3_Silent_p.G453G|CTNND1_uc001nlr.3_Silent_p.G453G|CTNND1_uc001nlp.3_Silent_p.G453G|CTNND1_uc001nlx.3_Silent_p.G184G|CTNND1_uc001nlz.3_Silent_p.G184G|CTNND1_uc009ymn.2_Silent_p.G184G|CTNND1_uc001nlm.3_Silent_p.G507G|CTNND1_uc001nly.3_Silent_p.G184G|CTNND1_uc001nmb.3_Silent_p.G184G|CTNND1_uc001nma.3_Silent_p.G184G|CTNND1_uc001nmi.3_Silent_p.G406G|CTNND1_uc001nmh.3_Silent_p.G507G|CTNND1_uc001nlq.3_Silent_p.G406G|CTNND1_uc001nln.3_Silent_p.G507G|CTNND1_uc001nli.3_Silent_p.G507G|CTNND1_uc001nlo.3_Silent_p.G406G|CTNND1_uc001nlv.3_Silent_p.G406G	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	507	ARM 4.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---	capture		Silent	SNP	57571193	57571193	4178	11	T	G	G	60	60	CTNND1	G	4	4
VWCE	220001	broad.mit.edu	37	11	61048362	61048362	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61048362C>A	uc001nra.2	-	8	1412	c.1133G>T	c.(1132-1134)CGA>CTA	p.R378L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	378						extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	61048362	61048362	17816	11	C	A	A	31	31	VWCE	A	1	1
SLC22A10	387775	broad.mit.edu	37	11	63065100	63065100	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63065100G>T	uc009yor.2	+	4	939	c.731G>T	c.(730-732)GGA>GTA	p.G244V	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	244	Helical; (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	63065100	63065100	14937	11	G	T	T	41	41	SLC22A10	T	2	2
CATSPER1	117144	broad.mit.edu	37	11	65786374	65786374	+	Splice_Site	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65786374C>A	uc001ogt.2	-	10	2264	c.2126_splice	c.e10-1	p.E709_splice		NM_053054	NP_444282			sperm-associated cation channel 1						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2																		---	---	---	---	capture		Splice_Site	SNP	65786374	65786374	2806	11	C	A	A	32	32	CATSPER1	A	5	2
TMEM151A	256472	broad.mit.edu	37	11	66062539	66062539	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66062539C>A	uc001ohl.2	+	2	934	c.822C>A	c.(820-822)GCC>GCA	p.A274A		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	274						integral to membrane				central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	66062539	66062539	16602	11	C	A	A	23	23	TMEM151A	A	1	1
HEPHL1	341208	broad.mit.edu	37	11	93806216	93806216	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93806216G>T	uc001pep.2	+	7	1415	c.1258G>T	c.(1258-1260)GGG>TGG	p.G420W	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	420	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93806216	93806216	7338	11	G	T	T	35	35	HEPHL1	T	2	2
ANKK1	255239	broad.mit.edu	37	11	113266892	113266892	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113266892C>T	uc001pny.2	+	5	880	c.786C>T	c.(784-786)GAC>GAT	p.D262D		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	262	Protein kinase.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)														---	---	---	---	capture		Silent	SNP	113266892	113266892	634	11	C	T	T	18	18	ANKK1	T	2	2
FAM55D	54827	broad.mit.edu	37	11	114442168	114442168	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114442168G>A	uc001ppc.2	-	6	1308	c.1127C>T	c.(1126-1128)TCT>TTT	p.S376F	FAM55D_uc001ppd.2_Missense_Mutation_p.S92F	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	376						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)														---	---	---	---	capture		Missense_Mutation	SNP	114442168	114442168	5809	11	G	A	A	33	33	FAM55D	A	2	2
ABCG4	64137	broad.mit.edu	37	11	119025563	119025563	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119025563T>C	uc001pvs.2	+	6	960	c.624T>C	c.(622-624)CGT>CGC	p.R208R	ABCG4_uc009zar.2_Silent_p.R208R	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	208	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)														---	---	---	---	capture		Silent	SNP	119025563	119025563	71	11	T	C	C	58	58	ABCG4	C	4	4
OR4D5	219875	broad.mit.edu	37	11	123810676	123810676	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123810676T>C	uc001pzk.1	+	1	353	c.353T>C	c.(352-354)ATG>ACG	p.M118T		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture		Missense_Mutation	SNP	123810676	123810676	11464	11	T	C	C	51	51	OR4D5	C	4	4
OR10G9	219870	broad.mit.edu	37	11	123893785	123893785	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123893785C>A	uc010sad.1	+	1	66	c.66C>A	c.(64-66)GAC>GAA	p.D22E		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture		Missense_Mutation	SNP	123893785	123893785	11310	11	C	A	A	19	19	OR10G9	A	1	1
ROBO4	54538	broad.mit.edu	37	11	124761273	124761273	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124761273G>A	uc001qbg.2	-	12	2010	c.1870C>T	c.(1870-1872)CTC>TTC	p.L624F	ROBO4_uc010sas.1_Missense_Mutation_p.L479F|ROBO4_uc001qbh.2_Missense_Mutation_p.L514F|ROBO4_uc001qbi.2_Missense_Mutation_p.L182F|ROBO4_uc010sat.1_Missense_Mutation_p.L182F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	624					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---	capture		Missense_Mutation	SNP	124761273	124761273	13995	11	G	A	A	35	35	ROBO4	A	2	2
ROBO4	54538	broad.mit.edu	37	11	124765457	124765457	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124765457C>A	uc001qbg.2	-	6	1072	c.932G>T	c.(931-933)GGA>GTA	p.G311V	ROBO4_uc010sas.1_Missense_Mutation_p.G166V|ROBO4_uc001qbh.2_Missense_Mutation_p.G201V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	311	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---	capture		Missense_Mutation	SNP	124765457	124765457	13995	11	C	A	A	30	30	ROBO4	A	2	2
IGSF9B	22997	broad.mit.edu	37	11	133790636	133790636	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790636A>T	uc001qgx.3	-	18	3215	c.2984T>A	c.(2983-2985)GTC>GAC	p.V995D		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	995	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---	capture		Missense_Mutation	SNP	133790636	133790636	7907	11	A	T	T	10	10	IGSF9B	T	4	4
IGSF9B	22997	broad.mit.edu	37	11	133790808	133790808	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790808C>T	uc001qgx.3	-	18	3043	c.2812G>A	c.(2812-2814)GAG>AAG	p.E938K		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	938	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---	capture		Missense_Mutation	SNP	133790808	133790808	7907	11	C	T	T	30	30	IGSF9B	T	2	2
GLB1L3	112937	broad.mit.edu	37	11	134180992	134180992	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134180992C>A	uc009zdf.2	+	13	1575	c.1215C>A	c.(1213-1215)CCC>CCA	p.P405P	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	405					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)														---	---	---	---	capture		Silent	SNP	134180992	134180992	6698	11	C	A	A	21	21	GLB1L3	A	2	2
NINJ2	4815	broad.mit.edu	37	12	675285	675285	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:675285C>T	uc001qil.2	-	2	322	c.231G>A	c.(229-231)AAG>AAA	p.K77K	NINJ2_uc010sdr.1_5'UTR|NINJ2_uc010sds.1_Silent_p.K77K	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	31	Extracellular (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)															---	---	---	---	capture		Silent	SNP	675285	675285	10820	12	C	T	T	32	32	NINJ2	T	2	2
KCNA1	3736	broad.mit.edu	37	12	5021357	5021357	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5021357C>A	uc001qnh.2	+	2	1918	c.813C>A	c.(811-813)ACC>ACA	p.T271T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	271	Helical; Name=Segment S3; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---	capture		Silent	SNP	5021357	5021357	8306	12	C	A	A	23	23	KCNA1	A	1	1
CLEC4C	170482	broad.mit.edu	37	12	7894077	7894077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7894077G>A	uc001qtg.1	-	3	349	c.175C>T	c.(175-177)CGA>TGA	p.R59*	CLEC4C_uc001qth.1_Nonsense_Mutation_p.R59*|CLEC4C_uc001qti.1_Nonsense_Mutation_p.R28*	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C isoform	59	Extracellular (Potential).				innate immune response	integral to membrane	sugar binding			ovary(2)|skin(1)	3				Kidney(36;0.0915)														---	---	---	---	capture		Nonsense_Mutation	SNP	7894077	7894077	3651	12	G	A	A	40	40	CLEC4C	A	5	1
SLC2A14	144195	broad.mit.edu	37	12	7984328	7984328	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7984328C>T	uc001qtk.2	-	9	1006	c.213G>A	c.(211-213)ACG>ACA	p.T71T	SLC2A14_uc001qtl.2_Silent_p.T48T|SLC2A14_uc001qtm.2_Silent_p.T48T|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.T71T|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.T86T	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	71	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)												OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	7984328	7984328	15040	12	C	T	T	23	23	SLC2A14	T	1	1
SLCO1B3	28234	broad.mit.edu	37	12	21028332	21028332	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21028332T>C	uc001rek.2	+	8	1017	c.891T>C	c.(889-891)CAT>CAC	p.H297H	SLCO1B3_uc001rel.2_Silent_p.H297H|SLCO1B3_uc010sil.1_Silent_p.H297H|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.H122H	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	297	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---	capture		Silent	SNP	21028332	21028332	15221	12	T	C	C	51	51	SLCO1B3	C	4	4
SLCO1B1	10599	broad.mit.edu	37	12	21331510	21331510	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21331510G>T	uc001req.3	+	6	586	c.482G>T	c.(481-483)GGT>GTT	p.G161V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	161	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---	capture		Missense_Mutation	SNP	21331510	21331510	15220	12	G	T	T	44	44	SLCO1B1	T	2	2
FAR2	55711	broad.mit.edu	37	12	29469880	29469880	+	Silent	SNP	G	A	A	rs142086556	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29469880G>A	uc001ris.3	+	9	1209	c.1062G>A	c.(1060-1062)GCG>GCA	p.A354A	FAR2_uc001rit.2_Silent_p.A354A|FAR2_uc009zjm.2_Silent_p.A257A|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	354					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0																		---	---	---	---	capture		Silent	SNP	29469880	29469880	5911	12	G	A	A	39	39	FAR2	A	1	1
CAPRIN2	65981	broad.mit.edu	37	12	30867967	30867967	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30867967C>T	uc001rji.1	-	15	3327	c.2576G>A	c.(2575-2577)CGG>CAG	p.R859Q	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R655Q|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R526Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R809Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R525Q|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R858Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R803Q|CAPRIN2_uc001rjm.1_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	859					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---	capture		Missense_Mutation	SNP	30867967	30867967	2755	12	C	T	T	23	23	CAPRIN2	T	1	1
PDZRN4	29951	broad.mit.edu	37	12	41957357	41957357	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41957357G>T	uc010skn.1	+	8	844	c.776G>T	c.(775-777)GGG>GTG	p.G259V	PDZRN4_uc001rmq.3_Missense_Mutation_p.G200V|PDZRN4_uc009zjz.2_Missense_Mutation_p.G198V|PDZRN4_uc001rmr.2_Missense_Mutation_p.G85V	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	458	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)																---	---	---	---	capture		Missense_Mutation	SNP	41957357	41957357	12131	12	G	T	T	43	43	PDZRN4	T	2	2
IGFBP6	3489	broad.mit.edu	37	12	53495851	53495851	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53495851G>T	uc001sbu.1	+	4	689	c.623G>T	c.(622-624)CGC>CTC	p.R208L	SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	208	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	53495851	53495851	7884	12	G	T	T	38	38	IGFBP6	T	1	1
POLR3B	55703	broad.mit.edu	37	12	106903246	106903246	+	Silent	SNP	G	A	A	rs113017214		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106903246G>A	uc001tlp.2	+	28	3543	c.3321G>A	c.(3319-3321)CCG>CCA	p.P1107P	POLR3B_uc001tlq.2_Silent_p.P1049P	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1107					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	106903246	106903246	12657	12	G	A	A	40	40	POLR3B	A	1	1
C12orf23	90488	broad.mit.edu	37	12	107364965	107364965	+	Silent	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107364965T>A	uc001tmb.2	+	4	521	c.147T>A	c.(145-147)GCT>GCA	p.A49A	C12orf23_uc001tmc.2_Silent_p.A49A|C12orf23_uc001tmd.2_Silent_p.A49A	NM_152261	NP_689474	Q8WUH6	CL023_HUMAN	hypothetical protein LOC90488	49	Helical; (Potential).					integral to membrane					0																		---	---	---	---	capture		Silent	SNP	107364965	107364965	1721	12	T	A	A	55	55	C12orf23	A	4	4
DNAH10	196385	broad.mit.edu	37	12	124395159	124395159	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124395159T>A	uc001uft.3	+	58	9745	c.9720T>A	c.(9718-9720)TTT>TTA	p.F3240L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3240	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---	capture		Missense_Mutation	SNP	124395159	124395159	4780	12	T	A	A	63	63	DNAH10	A	4	4
BRI3BP	140707	broad.mit.edu	37	12	125497114	125497114	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125497114G>T	uc001uha.1	+	2	391	c.248G>T	c.(247-249)GGA>GTA	p.G83V		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	83						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)														---	---	---	---	capture		Missense_Mutation	SNP	125497114	125497114	1544	12	G	T	T	41	41	BRI3BP	T	2	2
MTUS2	23281	broad.mit.edu	37	13	29599084	29599084	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29599084C>A	uc001usl.3	+	1	337	c.279C>A	c.(277-279)GGC>GGA	p.G93G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	83						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0																		---	---	---	---	capture		Silent	SNP	29599084	29599084	10359	13	C	A	A	28	28	MTUS2	A	2	2
FRY	10129	broad.mit.edu	37	13	32653058	32653058	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32653058C>T	uc001utx.2	+	2	654	c.158C>T	c.(157-159)CCC>CTC	p.P53L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---	capture		Missense_Mutation	SNP	32653058	32653058	6313	13	C	T	T	22	22	FRY	T	2	2
PCDH17	27253	broad.mit.edu	37	13	58208780	58208780	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208780C>T	uc001vhq.1	+	1	2992	c.2100C>T	c.(2098-2100)CAC>CAT	p.H700H	PCDH17_uc010aec.1_Silent_p.H700H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	700	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---	capture		Silent	SNP	58208780	58208780	11932	13	C	T	T	18	18	PCDH17	T	2	2
GPC5	2262	broad.mit.edu	37	13	92380825	92380825	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92380825C>G	uc010tif.1	+	4	1426	c.1060C>G	c.(1060-1062)CAA>GAA	p.Q354E		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	354						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---	capture		Missense_Mutation	SNP	92380825	92380825	6875	13	C	G	G	17	17	GPC5	G	3	3
KDELC1	79070	broad.mit.edu	37	13	103440247	103440247	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103440247T>C	uc001vpq.3	-	8	1704	c.1320A>G	c.(1318-1320)CAA>CAG	p.Q440Q	KDELC1_uc001vpr.3_Silent_p.Q221Q	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	440						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)																	---	---	---	---	capture		Silent	SNP	103440247	103440247	8423	13	T	C	C	56	56	KDELC1	C	4	4
FAM155A	728215	broad.mit.edu	37	13	108518154	108518154	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108518154C>G	uc001vql.2	-	1	1307	c.791G>C	c.(790-792)TGC>TCC	p.C264S		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	264						integral to membrane	binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	108518154	108518154	5663	13	C	G	G	25	25	FAM155A	G	3	3
CARKD	55739	broad.mit.edu	37	13	111290756	111290756	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111290756G>T	uc001vrb.2	+	10	939	c.925G>T	c.(925-927)GCC>TCC	p.A309S	CARKD_uc010tjj.1_Missense_Mutation_p.A291S|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.A199S|CARKD_uc010tjl.1_Missense_Mutation_p.A178S|CARKD_uc001vrc.2_Missense_Mutation_p.R354L			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	309	YjeF C-terminal.									skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	111290756	111290756	2773	13	G	T	T	38	38	CARKD	T	1	1
POTEG	404785	broad.mit.edu	37	14	19553647	19553647	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19553647G>T	uc001vuz.1	+	1	283	c.231G>T	c.(229-231)AAG>AAT	p.K77N	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	77										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19553647	19553647	12696	14	G	T	T	33	33	POTEG	T	2	2
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20295661C>T	uc010tkv.1	+	1	54	c.54C>T	c.(52-54)ACC>ACT	p.T18T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	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	20295661	20295661	11487	14	C	T	T	22	22	OR4N2	T	2	2
OR4K1	79544	broad.mit.edu	37	14	20404461	20404461	+	Silent	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20404461G>C	uc001vwj.1	+	1	636	c.636G>C	c.(634-636)CTG>CTC	p.L212L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)														---	---	---	---	capture		Silent	SNP	20404461	20404461	11477	14	G	C	C	47	47	OR4K1	C	3	3
CHD8	57680	broad.mit.edu	37	14	21876595	21876595	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21876595G>A	uc001was.1	-	13	1863	c.1769C>T	c.(1768-1770)TCC>TTC	p.S590F	CHD8_uc001war.1_Missense_Mutation_p.S486F|CHD8_uc001wav.1_Missense_Mutation_p.S32F	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	869	Helicase ATP-binding.				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		Missense_Mutation	SNP	21876595	21876595	3465	14	G	A	A	41	41	CHD8	A	2	2
MYH7	4625	broad.mit.edu	37	14	23900812	23900812	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23900812G>C	uc001wjx.2	-	8	820	c.714C>G	c.(712-714)AAC>AAG	p.N238K		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	238	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---	capture		Missense_Mutation	SNP	23900812	23900812	10434	14	G	C	C	40	40	MYH7	C	3	3
NID2	22795	broad.mit.edu	37	14	52478332	52478332	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52478332G>T	uc001wzo.2	-	17	3724	c.3490C>A	c.(3490-3492)CGG>AGG	p.R1164R	NID2_uc010tqs.1_Silent_p.R1116R|NID2_uc010tqt.1_Silent_p.R1164R	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1164	LDL-receptor class B 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---	capture		Silent	SNP	52478332	52478332	10816	14	G	T	T	40	40	NID2	T	1	1
SPTB	6710	broad.mit.edu	37	14	65237682	65237682	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65237682G>C	uc001xht.2	-	26	5773	c.5719C>G	c.(5719-5721)CGC>GGC	p.R1907G	SPTB_uc001xhr.2_Missense_Mutation_p.R1907G|SPTB_uc001xhs.2_Missense_Mutation_p.R1907G|SPTB_uc001xhu.2_Missense_Mutation_p.R1907G|SPTB_uc010aqi.2_Missense_Mutation_p.R568G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1907	Spectrin 16.				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	65237682	65237682	15632	14	G	C	C	39	39	SPTB	C	3	3
GALNTL1	57452	broad.mit.edu	37	14	69787472	69787472	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69787472G>T	uc010aqu.1	+	2	315	c.222G>T	c.(220-222)CTG>CTT	p.L74L	GALNTL1_uc001xla.1_Silent_p.L74L|GALNTL1_uc001xlb.1_Silent_p.L74L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	74	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)														---	---	---	---	capture		Silent	SNP	69787472	69787472	6485	14	G	T	T	48	48	GALNTL1	T	2	2
PCNX	22990	broad.mit.edu	37	14	71572105	71572105	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71572105G>A	uc001xmo.2	+	33	6695	c.6249G>A	c.(6247-6249)CAG>CAA	p.Q2083Q	PCNX_uc010are.1_Silent_p.Q1972Q|PCNX_uc010arf.1_Silent_p.Q871Q|PCNX_uc001xmp.2_Silent_p.Q167Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2083						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---	capture		Silent	SNP	71572105	71572105	12011	14	G	A	A	35	35	PCNX	A	2	2
FLRT2	23768	broad.mit.edu	37	14	86088821	86088821	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088821C>T	uc001xvr.2	+	2	1730	c.963C>T	c.(961-963)GTC>GTT	p.V321V	FLRT2_uc010atd.2_Silent_p.V321V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	321	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---	capture		Silent	SNP	86088821	86088821	6181	14	C	T	T	29	29	FLRT2	T	2	2
FLRT2	23768	broad.mit.edu	37	14	86088895	86088895	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088895G>T	uc001xvr.2	+	2	1804	c.1037G>T	c.(1036-1038)CGG>CTG	p.R346L	FLRT2_uc010atd.2_Missense_Mutation_p.R346L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	346	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---	capture		Missense_Mutation	SNP	86088895	86088895	6181	14	G	T	T	39	39	FLRT2	T	1	1
FLRT2	23768	broad.mit.edu	37	14	86089605	86089605	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86089605C>T	uc001xvr.2	+	2	2514	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W	FLRT2_uc010atd.2_Missense_Mutation_p.R583W	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	583	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---	capture		Missense_Mutation	SNP	86089605	86089605	6181	14	C	T	T	23	23	FLRT2	T	1	1
FBLN5	10516	broad.mit.edu	37	14	92347671	92347671	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92347671G>C	uc001xzx.3	-	9	1427	c.954C>G	c.(952-954)ATC>ATG	p.I318M	FBLN5_uc010aud.2_Missense_Mutation_p.I323M|FBLN5_uc010aue.2_Missense_Mutation_p.I359M	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	318	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)																---	---	---	---	capture		Missense_Mutation	SNP	92347671	92347671	5936	14	G	C	C	41	41	FBLN5	C	3	3
GOLGA5	9950	broad.mit.edu	37	14	93301991	93301991	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93301991G>T	uc001yaz.1	+	11	2215	c.2033G>T	c.(2032-2034)AGT>ATT	p.S678I	GOLGA5_uc001yba.1_Missense_Mutation_p.S75I	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	678	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)				T	RET	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	93301991	93301991	6825	14	G	T	T	36	36	GOLGA5	T	2	2
EML1	2009	broad.mit.edu	37	14	100344847	100344847	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100344847G>A	uc001ygs.2	+	4	478	c.409G>A	c.(409-411)GAA>AAA	p.E137K	EML1_uc010avt.1_Missense_Mutation_p.E124K|EML1_uc010tww.1_Missense_Mutation_p.E125K|EML1_uc001ygq.2_Missense_Mutation_p.E156K|EML1_uc001ygr.2_Missense_Mutation_p.E156K	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	137						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)																---	---	---	---	capture		Missense_Mutation	SNP	100344847	100344847	5288	14	G	A	A	45	45	EML1	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105410523	105410523	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105410523C>A	uc010axc.1	-	7	11385	c.11265G>T	c.(11263-11265)GCG>GCT	p.A3755A	AHNAK2_uc001ypx.2_Silent_p.A3655A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3755						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	105410523	105410523	418	14	C	A	A	23	23	AHNAK2	A	1	1
AHNAK2	113146	broad.mit.edu	37	14	105412995	105412995	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105412995C>A	uc010axc.1	-	7	8913	c.8793G>T	c.(8791-8793)GAG>GAT	p.E2931D	AHNAK2_uc001ypx.2_Missense_Mutation_p.E2831D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2931						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	105412995	105412995	418	14	C	A	A	24	24	AHNAK2	A	2	2
PACS2	23241	broad.mit.edu	37	14	105860966	105860966	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105860966A>C	uc001yqt.2	+	24	2802	c.2627A>C	c.(2626-2628)CAC>CCC	p.H876P	PACS2_uc001yqs.2_Missense_Mutation_p.H801P|PACS2_uc001yqv.2_Missense_Mutation_p.H880P|PACS2_uc001yqu.2_Missense_Mutation_p.H891P	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	876					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)														---	---	---	---	capture		Missense_Mutation	SNP	105860966	105860966	11789	14	A	C	C	6	6	PACS2	C	4	4
NDN	4692	broad.mit.edu	37	15	23932302	23932302	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23932302C>A	uc001ywk.2	-	1	149	c.63G>T	c.(61-63)GAG>GAT	p.E21D		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	21					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										Prader-Willi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	23932302	23932302	10646	15	C	A	A	24	24	NDN	A	2	2
GABRB3	2562	broad.mit.edu	37	15	26866506	26866506	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26866506C>A	uc001zaz.2	-	4	558	c.416G>T	c.(415-417)CGC>CTC	p.R139L	GABRB3_uc010uae.1_Missense_Mutation_p.R54L|GABRB3_uc001zba.2_Missense_Mutation_p.R139L|GABRB3_uc001zbb.2_Missense_Mutation_p.R195L|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	139	Extracellular (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---	capture		Missense_Mutation	SNP	26866506	26866506	6419	15	C	A	A	27	27	GABRB3	A	1	1
RYR3	6263	broad.mit.edu	37	15	33927921	33927921	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33927921G>A	uc001zhi.2	+	26	3352	c.3282G>A	c.(3280-3282)GTG>GTA	p.V1094V	RYR3_uc010bar.2_Silent_p.V1094V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1094	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Silent	SNP	33927921	33927921	14250	15	G	A	A	45	45	RYR3	A	2	2
C15orf24	56851	broad.mit.edu	37	15	34376672	34376672	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34376672T>C	uc001zhm.2	-	5	605	c.592A>G	c.(592-594)ATG>GTG	p.M198V	C15orf24_uc001zhn.2_Missense_Mutation_p.M81V	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	chromosome 15 open reading frame 24 precursor	198	Cytoplasmic (Potential).					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding				0		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)														---	---	---	---	capture		Missense_Mutation	SNP	34376672	34376672	1836	15	T	C	C	52	52	C15orf24	C	4	4
BUB1B	701	broad.mit.edu	37	15	40504848	40504848	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40504848A>C	uc001zkx.3	+	19	2746	c.2534A>C	c.(2533-2535)CAG>CCG	p.Q845P		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	845	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)				Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	40504848	40504848	1605	15	A	C	C	7	7	BUB1B	C	4	4
DISP2	85455	broad.mit.edu	37	15	40660491	40660491	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40660491C>T	uc001zlk.1	+	8	2267	c.2178C>T	c.(2176-2178)CGC>CGT	p.R726R		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	726					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)														---	---	---	---	capture		Silent	SNP	40660491	40660491	4719	15	C	T	T	26	26	DISP2	T	2	2
TYRO3	7301	broad.mit.edu	37	15	41857275	41857275	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41857275A>T	uc001zof.1	+	6	943	c.719A>T	c.(718-720)AAC>ATC	p.N240I		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	240	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	41857275	41857275	17371	15	A	T	T	2	2	TYRO3	T	4	4
MGA	23269	broad.mit.edu	37	15	42028655	42028655	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42028655C>T	uc010ucy.1	+	13	4374	c.4193C>T	c.(4192-4194)TCT>TTT	p.S1398F	MGA_uc010ucz.1_Missense_Mutation_p.S1398F|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1398						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---	capture		Missense_Mutation	SNP	42028655	42028655	9930	15	C	T	T	32	32	MGA	T	2	2
ANP32A	8125	broad.mit.edu	37	15	69113052	69113052	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69113052G>T	uc002arl.2	-	1	210	c.39C>A	c.(37-39)AAC>AAA	p.N13K		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	13					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69113052	69113052	713	15	G	T	T	48	48	ANP32A	T	2	2
KIF23	9493	broad.mit.edu	37	15	69709736	69709736	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69709736G>A	uc002asb.2	+	3	213	c.96G>A	c.(94-96)GTG>GTA	p.V32V	KIF23_uc002asc.2_Silent_p.V32V|KIF23_uc010bii.2_5'UTR|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	32	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---	capture		Silent	SNP	69709736	69709736	8602	15	G	A	A	46	46	KIF23	A	2	2
NEO1	4756	broad.mit.edu	37	15	73562757	73562757	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73562757C>T	uc002avm.3	+	18	2961	c.2819C>T	c.(2818-2820)ACA>ATA	p.T940I	NEO1_uc010ukx.1_Missense_Mutation_p.T940I|NEO1_uc010uky.1_Missense_Mutation_p.T940I|NEO1_uc010ukz.1_Missense_Mutation_p.T364I|NEO1_uc002avn.3_Missense_Mutation_p.T589I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	940	Extracellular (Potential).|Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	73562757	73562757	10735	15	C	T	T	17	17	NEO1	T	2	2
SV2B	9899	broad.mit.edu	37	15	91769672	91769672	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91769672A>G	uc002bqv.2	+	1	570	c.179A>G	c.(178-180)AAG>AGG	p.K60R	SV2B_uc002bqt.2_Missense_Mutation_p.K60R|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	60	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)															---	---	---	---	capture		Missense_Mutation	SNP	91769672	91769672	15938	15	A	G	G	3	3	SV2B	G	4	4
PDIA2	64714	broad.mit.edu	37	16	335627	335627	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:335627C>A	uc002cgn.1	+	12	2151	c.1043C>A	c.(1042-1044)GCG>GAG	p.A348E	PDIA2_uc010bqt.1_Missense_Mutation_p.A193E|PDIA2_uc002cgo.1_Missense_Mutation_p.A348E	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	348					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---	capture		Missense_Mutation	SNP	335627	335627	12089	16	C	A	A	27	27	PDIA2	A	1	1
WDR24	84219	broad.mit.edu	37	16	735761	735761	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:735761G>A	uc002ciz.1	-	6	2356	c.1596C>T	c.(1594-1596)AGC>AGT	p.S532S	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	662										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)																---	---	---	---	capture		Silent	SNP	735761	735761	17854	16	G	A	A	38	38	WDR24	A	1	1
MAPK8IP3	23162	broad.mit.edu	37	16	1756652	1756652	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1756652G>A	uc002cmk.2	+	1	432	c.312G>A	c.(310-312)GCG>GCA	p.A104A	MAPK8IP3_uc002cmi.1_Silent_p.A104A|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.A104A|MAPK8IP3_uc010uvl.1_Silent_p.A104A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	104	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	1756652	1756652	9669	16	G	A	A	39	39	MAPK8IP3	A	1	1
AMDHD2	51005	broad.mit.edu	37	16	2579538	2579538	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2579538T>C	uc002cqq.2	+	11	1301	c.1204T>C	c.(1204-1206)TGG>CGG	p.W402R	AMDHD2_uc002cqp.2_Missense_Mutation_p.W432R|AMDHD2_uc010uwc.1_Intron|AMDHD2_uc010uwd.1_Intron	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	402					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2579538	2579538	571	16	T	C	C	59	59	AMDHD2	C	4	4
KIAA0430	9665	broad.mit.edu	37	16	15716946	15716946	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15716946G>A	uc002ddr.2	-	11	2498	c.2305C>T	c.(2305-2307)CCG>TCG	p.P769S	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.P765S|KIAA0430_uc010uzw.1_Missense_Mutation_p.P768S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	768						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15716946	15716946	8484	16	G	A	A	43	43	KIAA0430	A	2	2
C16orf88	400506	broad.mit.edu	37	16	19722719	19722719	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19722719T>A	uc002dgq.2	-	3	977	c.962A>T	c.(961-963)AAC>ATC	p.N321I		NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	321	Interaction with ZFP106 (By similarity).					nucleolus					0																		---	---	---	---	capture		Missense_Mutation	SNP	19722719	19722719	1894	16	T	A	A	60	60	C16orf88	A	4	4
CRYM	1428	broad.mit.edu	37	16	21278978	21278978	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21278978C>T	uc002dik.2	-	5	655	c.570G>A	c.(568-570)TCG>TCA	p.S190S	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.S148S|CRYM_uc002dim.2_Silent_p.S190S	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	190					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)													---	---	---	---	capture		Silent	SNP	21278978	21278978	4060	16	C	T	T	23	23	CRYM	T	1	1
SCNN1B	6338	broad.mit.edu	37	16	23383105	23383105	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23383105T>C	uc002dln.2	+	7	1229	c.1053T>C	c.(1051-1053)CTT>CTC	p.L351L		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	351	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---	capture		Silent	SNP	23383105	23383105	14410	16	T	C	C	62	62	SCNN1B	C	4	4
XPO6	23214	broad.mit.edu	37	16	28124345	28124345	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28124345C>T	uc002dpa.1	-	16	2532	c.2031G>A	c.(2029-2031)GCG>GCA	p.A677A	XPO6_uc002dpb.1_Silent_p.A663A|XPO6_uc010vcp.1_Silent_p.A677A	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	677					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	28124345	28124345	18031	16	C	T	T	19	19	XPO6	T	1	1
HIRIP3	8479	broad.mit.edu	37	16	30004865	30004865	+	Silent	SNP	T	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30004865T>G	uc002dve.2	-	6	1883	c.1422A>C	c.(1420-1422)CTA>CTC	p.L474L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Silent_p.R162R	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	474					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	30004865	30004865	7406	16	T	G	G	53	53	HIRIP3	G	4	4
MYLPF	29895	broad.mit.edu	37	16	30387949	30387949	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30387949C>T	uc002dxv.1	+	5	342	c.286C>T	c.(286-288)CCT>TCT	p.P96S		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	96	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	30387949	30387949	10455	16	C	T	T	22	22	MYLPF	T	2	2
SRCAP	10847	broad.mit.edu	37	16	30722077	30722077	+	Silent	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30722077A>T	uc002dze.1	+	9	1522	c.1137A>T	c.(1135-1137)ATA>ATT	p.I379I	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.I236I|SRCAP_uc010bzz.1_5'UTR	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	379	Glu-rich.				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		Silent	SNP	30722077	30722077	15649	16	A	T	T	13	13	SRCAP	T	4	4
SRCAP	10847	broad.mit.edu	37	16	30722079	30722079	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30722079A>C	uc002dze.1	+	9	1524	c.1139A>C	c.(1138-1140)AAG>ACG	p.K380T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K237T|SRCAP_uc010bzz.1_5'UTR	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	380	Glu-rich.				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	30722079	30722079	15649	16	A	C	C	3	3	SRCAP	C	4	4
MMP15	4324	broad.mit.edu	37	16	58072217	58072217	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58072217G>T	uc002ena.2	+	3	1332	c.359G>T	c.(358-360)CGA>CTA	p.R120L		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	120					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	58072217	58072217	10044	16	G	T	T	37	37	MMP15	T	1	1
NOB1	28987	broad.mit.edu	37	16	69788568	69788568	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69788568G>A	uc002exs.2	-	2	141	c.125C>T	c.(124-126)ACA>ATA	p.T42I		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	42	PINc.					nucleus	metal ion binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69788568	69788568	10914	16	G	A	A	48	48	NOB1	A	2	2
CLEC18A	348174	broad.mit.edu	37	16	69996952	69996952	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69996952C>A	uc010vlo.1	+	12	1405	c.1285C>A	c.(1285-1287)CGT>AGT	p.R429S	CLEC18C_uc002exy.2_Intron|CLEC18A_uc002exz.2_Missense_Mutation_p.R429S|CLEC18A_uc002eya.2_Missense_Mutation_p.R429S	NM_001136214	NP_001129686	A5D8T8	CL18A_HUMAN	secretory protein LOC348174 precursor	429	C-type lectin.					extracellular region	sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69996952	69996952	3639	16	C	A	A	23	23	CLEC18A	A	1	1
HYDIN	54768	broad.mit.edu	37	16	71101194	71101194	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71101194T>A	uc002ezr.2	-	15	2202	c.2074A>T	c.(2074-2076)AGG>TGG	p.R692W	HYDIN_uc010cfz.1_Missense_Mutation_p.R437W|HYDIN_uc002ezv.2_Missense_Mutation_p.R692W|HYDIN_uc010vmc.1_Missense_Mutation_p.R709W|HYDIN_uc010vmd.1_Missense_Mutation_p.R719W|HYDIN_uc002ezw.3_Missense_Mutation_p.R709W	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	692										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---	capture		Missense_Mutation	SNP	71101194	71101194	7767	16	T	A	A	56	56	HYDIN	A	4	4
CLEC18B	497190	broad.mit.edu	37	16	74443466	74443466	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74443466G>T	uc002fct.2	-	12	1512	c.1312C>A	c.(1312-1314)CGT>AGT	p.R438S	CLEC18B_uc002fcu.2_Missense_Mutation_p.R429S	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	438	C-type lectin.					extracellular region	sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	74443466	74443466	3640	16	G	T	T	39	39	CLEC18B	T	1	1
CLEC18B	497190	broad.mit.edu	37	16	74446697	74446697	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74446697G>A	uc002fct.2	-	6	958	c.758C>T	c.(757-759)CCT>CTT	p.P253L	CLEC18B_uc002fcu.2_Missense_Mutation_p.P253L|CLEC18B_uc010vmu.1_Missense_Mutation_p.P173L|CLEC18B_uc010vmv.1_Missense_Mutation_p.P20L	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	253	EGF-like.					extracellular region	sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	74446697	74446697	3640	16	G	A	A	35	35	CLEC18B	A	2	2
ADAD2	161931	broad.mit.edu	37	16	84224969	84224969	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84224969C>A	uc002fhr.2	+	1	247	c.133C>A	c.(133-135)CCC>ACC	p.P45T	ADAD2_uc002fhq.2_Missense_Mutation_p.P45T	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	45					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	84224969	84224969	233	16	C	A	A	26	26	ADAD2	A	2	2
GALNS	2588	broad.mit.edu	37	16	88904108	88904108	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88904108G>A	uc002fly.3	-	5	577	c.488C>T	c.(487-489)CCC>CTC	p.P163L	GALNS_uc010cid.2_Missense_Mutation_p.P169L|GALNS_uc002flz.3_Intron	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	163						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)													---	---	---	---	capture		Missense_Mutation	SNP	88904108	88904108	6470	16	G	A	A	43	43	GALNS	A	2	2
CPNE7	27132	broad.mit.edu	37	16	89662918	89662918	+	Nonsense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89662918C>A	uc002fnp.2	+	17	1921	c.1791C>A	c.(1789-1791)TGC>TGA	p.C597*	CPNE7_uc002fnq.2_Nonsense_Mutation_p.C522*	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	597					lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)														---	---	---	---	capture		Nonsense_Mutation	SNP	89662918	89662918	3955	16	C	A	A	27	27	CPNE7	A	5	1
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	C	C	rs138729528		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578407G>C	uc002gim.2	-	5	717	c.523C>G	c.(523-525)CGC>GGC	p.R175G	TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	SNP	7578407	7578407	16923	17	G	C	C	38	38	TP53	C	3	3
PER1	5187	broad.mit.edu	37	17	8045139	8045139	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8045139C>A	uc002gkd.2	-	22	3822	c.3584G>T	c.(3583-3585)CGG>CTG	p.R1195L	PER1_uc010cns.2_Missense_Mutation_p.R69L|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1195	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9								T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Missense_Mutation	SNP	8045139	8045139	12150	17	C	A	A	23	23	PER1	A	1	1
DNAH9	1770	broad.mit.edu	37	17	11642264	11642264	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11642264G>T	uc002gne.2	+	29	5950	c.5882G>T	c.(5881-5883)AGC>ATC	p.S1961I	DNAH9_uc010coo.2_Missense_Mutation_p.S1255I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1961	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---	capture		Missense_Mutation	SNP	11642264	11642264	4791	17	G	T	T	34	34	DNAH9	T	2	2
NCOR1	9611	broad.mit.edu	37	17	15952254	15952254	+	Nonsense_Mutation	SNP	G	T	T	rs144480346	byFrequency;by1000genomes	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15952254G>T	uc002gpo.2	-	41	6681	c.6441C>A	c.(6439-6441)TAC>TAA	p.Y2147*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2147	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---	capture		Nonsense_Mutation	SNP	15952254	15952254	10634	17	G	T	T	40	40	NCOR1	T	5	1
FAM18B	51030	broad.mit.edu	37	17	18694245	18694245	+	Silent	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18694245A>T	uc002gum.2	+	3	157	c.132A>T	c.(130-132)CGA>CGT	p.R44R	FAM18B_uc002gun.2_5'UTR	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN	hypothetical protein LOC51030	44	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)														---	---	---	---	capture		Silent	SNP	18694245	18694245	5730	17	A	T	T	11	11	FAM18B	T	4	4
PIGS	94005	broad.mit.edu	37	17	26881995	26881995	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26881995C>T	uc002hbo.2	-	11	1639	c.1266G>A	c.(1264-1266)GAG>GAA	p.E422E	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.E414E|PIGS_uc010wap.1_Silent_p.E361E	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	422	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)																	---	---	---	---	capture		Silent	SNP	26881995	26881995	12322	17	C	T	T	28	28	PIGS	T	2	2
TMEM132E	124842	broad.mit.edu	37	17	32961865	32961865	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32961865G>A	uc002hif.2	+	8	1794	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	489	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)														---	---	---	---	capture		Missense_Mutation	SNP	32961865	32961865	16580	17	G	A	A	39	39	TMEM132E	A	1	1
CNTNAP1	8506	broad.mit.edu	37	17	40845547	40845547	+	Nonsense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40845547C>A	uc002iay.2	+	18	3201	c.2985C>A	c.(2983-2985)TGC>TGA	p.C995*	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	995	EGF-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---	capture		Nonsense_Mutation	SNP	40845547	40845547	3784	17	C	A	A	25	25	CNTNAP1	A	5	2
COL1A1	1277	broad.mit.edu	37	17	48267439	48267439	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48267439C>T	uc002iqm.2	-	36	2608	c.2482G>A	c.(2482-2484)GAA>AAA	p.E828K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	828	Triple-helical region.				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	48267439	48267439	3815	17	C	T	T	31	31	COL1A1	T	1	1
C17orf71	55181	broad.mit.edu	37	17	57288727	57288727	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57288727C>T	uc002ixi.2	+	1	1357	c.1315C>T	c.(1315-1317)CAT>TAT	p.H439Y		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	439					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	57288727	57288727	1935	17	C	T	T	21	21	C17orf71	T	2	2
ABCA8	10351	broad.mit.edu	37	17	66873754	66873754	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66873754C>T	uc002jhp.2	-	31	4164	c.3985G>A	c.(3985-3987)GCG>ACG	p.A1329T	ABCA8_uc002jhq.2_Missense_Mutation_p.A1369T|ABCA8_uc010wqq.1_Missense_Mutation_p.A1364T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1329	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)																	---	---	---	---	capture		Missense_Mutation	SNP	66873754	66873754	39	17	C	T	T	27	27	ABCA8	T	1	1
SDK2	54549	broad.mit.edu	37	17	71427679	71427679	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71427679C>G	uc010dfm.2	-	11	1442	c.1442G>C	c.(1441-1443)CGG>CCG	p.R481P	SDK2_uc010dfn.2_Missense_Mutation_p.R160P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	481	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	71427679	71427679	14455	17	C	G	G	23	23	SDK2	G	3	3
EVPL	2125	broad.mit.edu	37	17	74004655	74004655	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74004655T>C	uc002jqi.2	-	22	4859	c.4631A>G	c.(4630-4632)AAC>AGC	p.N1544S	EVPL_uc010wss.1_Missense_Mutation_p.N1566S|EVPL_uc010wst.1_Missense_Mutation_p.N1014S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1544	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	74004655	74004655	5485	17	T	C	C	60	60	EVPL	C	4	4
CBX2	84733	broad.mit.edu	37	17	77758407	77758407	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77758407G>T	uc002jxc.2	+	5	1207	c.1165G>T	c.(1165-1167)GGG>TGG	p.G389W		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	389					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---	capture		Missense_Mutation	SNP	77758407	77758407	2837	17	G	T	T	47	47	CBX2	T	2	2
FOXK2	3607	broad.mit.edu	37	17	80477930	80477930	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80477930A>T	uc002kfn.2	+	1	337	c.166A>T	c.(166-168)ATC>TTC	p.I56F	FOXK2_uc002kfm.1_Missense_Mutation_p.I56F|FOXK2_uc010diu.2_Missense_Mutation_p.I56F	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	56	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)															---	---	---	---	capture		Missense_Mutation	SNP	80477930	80477930	6261	17	A	T	T	8	8	FOXK2	T	4	4
CIDEA	1149	broad.mit.edu	37	18	12277260	12277260	+	Silent	SNP	G	T	T	rs147817564	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12277260G>T	uc002kqt.3	+	5	716	c.651G>T	c.(649-651)ACG>ACT	p.T217T	CIDEA_uc002kqu.3_Silent_p.T251T|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	217					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	12277260	12277260	3559	18	G	T	T	40	40	CIDEA	T	1	1
KIAA1012	22878	broad.mit.edu	37	18	29496235	29496235	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29496235C>T	uc002kxc.3	-	4	981	c.617G>A	c.(616-618)AGA>AAA	p.R206K	KIAA1012_uc002kxb.3_Missense_Mutation_p.R152K|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.R206K	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	206					ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---	capture		Missense_Mutation	SNP	29496235	29496235	8511	18	C	T	T	24	24	KIAA1012	T	2	2
ASXL3	80816	broad.mit.edu	37	18	31326458	31326458	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31326458C>A	uc010dmg.1	+	12	6701	c.6646C>A	c.(6646-6648)CGG>AGG	p.R2216R	ASXL3_uc002kxq.2_Silent_p.R1923R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2216	PHD-type; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	31326458	31326458	1087	18	C	A	A	23	23	ASXL3	A	1	1
NOL4	8715	broad.mit.edu	37	18	31463262	31463262	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31463262T>A	uc010dmi.2	-	10	1898	c.1669A>T	c.(1669-1671)AGT>TGT	p.S557C	NOL4_uc010xbs.1_Missense_Mutation_p.S272C|NOL4_uc002kxr.3_Missense_Mutation_p.S329C|NOL4_uc010xbt.1_Missense_Mutation_p.S483C|NOL4_uc010dmh.2_Missense_Mutation_p.S419C|NOL4_uc010xbu.1_Missense_Mutation_p.S493C|NOL4_uc002kxt.3_Missense_Mutation_p.S455C	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	557						nucleolus	RNA binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31463262	31463262	10927	18	T	A	A	53	53	NOL4	A	4	4
SIGLEC15	284266	broad.mit.edu	37	18	43418836	43418836	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43418836G>A	uc002lbl.1	+	4	799	c.650G>A	c.(649-651)GGT>GAT	p.G217D	SIGLEC15_uc010xcp.1_RNA	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	217	Extracellular (Potential).|Ig-like C2-type.					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	43418836	43418836	14805	18	G	A	A	44	44	SIGLEC15	A	2	2
TCEB3C	162699	broad.mit.edu	37	18	44555221	44555221	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44555221C>A	uc010xdb.1	-	1	1229	c.993G>T	c.(991-993)CAG>CAT	p.Q331H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	331	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44555221	44555221	16209	18	C	A	A	28	28	TCEB3C	A	2	2
SERPINB2	5055	broad.mit.edu	37	18	61570219	61570219	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61570219C>G	uc010xeu.1	+	9	1261	c.928C>G	c.(928-930)CCC>GCC	p.P310A	SERPINB2_uc002ljo.2_Missense_Mutation_p.P310A|SERPINB2_uc010dqh.2_Missense_Mutation_p.P240A|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	310					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)													---	---	---	---	capture		Missense_Mutation	SNP	61570219	61570219	14589	18	C	G	G	18	18	SERPINB2	G	3	3
C18orf55	29090	broad.mit.edu	37	18	71816224	71816224	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71816224A>T	uc010dqr.1	+	1	479	c.181A>T	c.(181-183)ACC>TCC	p.T61S	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	61					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	71816224	71816224	1966	18	A	T	T	6	6	C18orf55	T	4	4
AES	166	broad.mit.edu	37	19	3053947	3053947	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3053947G>C	uc002lwy.1	-	7	637	c.464C>G	c.(463-465)CCG>CGG	p.P155R	AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.P154R|AES_uc002lxa.1_Missense_Mutation_p.P99R|AES_uc002lxb.1_Missense_Mutation_p.P222R|AES_uc002lxc.2_Silent_p.A248A	NM_001130	NP_001121	Q08117	AES_HUMAN	amino-terminal enhancer of split isoform b	155	Gly/Pro-rich (GP domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	3053947	3053947	353	19	G	C	C	39	39	AES	C	3	3
TJP3	27134	broad.mit.edu	37	19	3734422	3734422	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3734422C>A	uc010xhv.1	+	7	1074	c.1074C>A	c.(1072-1074)ACC>ACA	p.T358T	TJP3_uc010xhs.1_Silent_p.T325T|TJP3_uc010xht.1_Silent_p.T289T|TJP3_uc010xhu.1_Silent_p.T334T|TJP3_uc010xhw.1_Silent_p.T344T	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	339						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	3734422	3734422	16460	19	C	A	A	23	23	TJP3	A	1	1
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6479048C>G	uc002mfe.2	-	5	288	c.196G>C	c.(196-198)GTG>CTG	p.V66L	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.V22L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	6479048	6479048	4607	19	C	G	G	19	19	DENND1C	G	3	3
ZNF177	7730	broad.mit.edu	37	19	9492293	9492293	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9492293G>A	uc002mli.2	+	12	1469	c.806G>A	c.(805-807)TGT>TAT	p.C269Y	ZNF177_uc002mlj.2_Missense_Mutation_p.C219Y|ZNF177_uc002mlk.2_Missense_Mutation_p.C269Y	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	269	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	9492293	9492293	18337	19	G	A	A	48	48	ZNF177	A	2	2
ZNF121	7675	broad.mit.edu	37	19	9677208	9677208	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9677208T>A	uc010xkp.1	-	4	813	c.581A>T	c.(580-582)CAT>CTT	p.H194L	ZNF121_uc010dwt.2_Missense_Mutation_p.H194L|ZNF121_uc010xkq.1_Missense_Mutation_p.H194L	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	194	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	9677208	9677208	18310	19	T	A	A	51	51	ZNF121	A	4	4
RDH8	50700	broad.mit.edu	37	19	10131415	10131415	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10131415C>T	uc002mmr.2	+	4	722	c.473C>T	c.(472-474)TCC>TTC	p.S158F		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	158					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)													---	---	---	---	capture		Missense_Mutation	SNP	10131415	10131415	13665	19	C	T	T	30	30	RDH8	T	2	2
ILF3	3609	broad.mit.edu	37	19	10782046	10782046	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10782046G>A	uc002mpn.2	+	4	563	c.246G>A	c.(244-246)ACG>ACA	p.T82T	ILF3_uc002mpm.2_Silent_p.T82T|ILF3_uc002mpl.2_Silent_p.T82T|ILF3_uc002mpk.2_Silent_p.T82T|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.T82T	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	82					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)															---	---	---	---	capture		Silent	SNP	10782046	10782046	8013	19	G	A	A	39	39	ILF3	A	1	1
ZNF625	90589	broad.mit.edu	37	19	12256217	12256217	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12256217T>C	uc002mth.2	-	4	1166	c.816A>G	c.(814-816)AAA>AAG	p.K272K	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.K306K	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	272	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	12256217	12256217	18644	19	T	C	C	56	56	ZNF625	C	4	4
FBXW9	84261	broad.mit.edu	37	19	12805660	12805660	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12805660G>C	uc010dyx.2	-	2	472	c.472C>G	c.(472-474)CTG>GTG	p.L158V	FBXW9_uc010xmp.1_Intron|FBXW9_uc002mum.1_Missense_Mutation_p.L168V|FBXW9_uc002mun.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	168							protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	12805660	12805660	6008	19	G	C	C	35	35	FBXW9	C	3	3
PLVAP	83483	broad.mit.edu	37	19	17487871	17487871	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17487871C>T	uc002ngk.1	-	1	277	c.227G>A	c.(226-228)GGG>GAG	p.G76E		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	76	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0																		---	---	---	---	capture		Missense_Mutation	SNP	17487871	17487871	12542	19	C	T	T	22	22	PLVAP	T	2	2
FCHO1	23149	broad.mit.edu	37	19	17875189	17875189	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17875189C>A	uc010ebb.2	+	5	314	c.125C>A	c.(124-126)ACC>AAC	p.T42N	FCHO1_uc002nhg.3_Missense_Mutation_p.T42N|FCHO1_uc002nhh.2_Missense_Mutation_p.T42N|FCHO1_uc010xpw.1_5'UTR|FCHO1_uc010ebc.1_Missense_Mutation_p.T49N	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	42	FCH.									breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17875189	17875189	6024	19	C	A	A	18	18	FCHO1	A	2	2
KLHL26	55295	broad.mit.edu	37	19	18778613	18778613	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18778613G>T	uc002njz.1	+	3	433	c.406G>T	c.(406-408)GTG>TTG	p.V136L		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	136										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	18778613	18778613	8693	19	G	T	T	40	40	KLHL26	T	1	1
DMKN	93099	broad.mit.edu	37	19	36002311	36002311	+	Splice_Site	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36002311A>T	uc002nzm.3	-	5	1101	c.918_splice	c.e5+1	p.W306_splice	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_Intron|DMKN_uc002oac.3_Splice_Site_p.W306_splice|DMKN_uc010eeb.2_Splice_Site_p.W306_splice|DMKN_uc002oaa.3_Splice_Site_p.W306_splice|DMKN_uc002oab.3_Splice_Site_p.W306_splice	NM_033317	NP_201574			dermokine isoform 2 precursor							extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---	capture		Splice_Site	SNP	36002311	36002311	4762	19	A	T	T	6	6	DMKN	T	5	4
ZNF540	163255	broad.mit.edu	37	19	38102578	38102578	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38102578G>A	uc002ogq.2	+	5	729	c.397G>A	c.(397-399)GGA>AGA	p.G133R	ZNF540_uc002ogu.2_Missense_Mutation_p.G133R|ZNF540_uc010efq.2_Missense_Mutation_p.G101R	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	38102578	38102578	18569	19	G	A	A	43	43	ZNF540	A	2	2
ZNF540	163255	broad.mit.edu	37	19	38103723	38103723	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38103723G>C	uc002ogq.2	+	5	1874	c.1542G>C	c.(1540-1542)CAG>CAC	p.Q514H	ZNF540_uc002ogu.2_Missense_Mutation_p.Q514H|ZNF540_uc010efq.2_Missense_Mutation_p.Q482H	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	514	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	38103723	38103723	18569	19	G	C	C	33	33	ZNF540	C	3	3
CEACAM6	4680	broad.mit.edu	37	19	42260847	42260847	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42260847C>A	uc002orm.2	+	2	553	c.404C>A	c.(403-405)ACC>AAC	p.T135N		NM_002483	NP_002474	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion	135	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)														---	---	---	---	capture		Missense_Mutation	SNP	42260847	42260847	3329	19	C	A	A	18	18	CEACAM6	A	2	2
PHLDB3	653583	broad.mit.edu	37	19	43990978	43990978	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43990978C>A	uc002own.3	-	11	1553	c.1294G>T	c.(1294-1296)GGC>TGC	p.G432C	PHLDB3_uc010eit.2_Missense_Mutation_p.G136C	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	432											0		Prostate(69;0.0153)																---	---	---	---	capture		Missense_Mutation	SNP	43990978	43990978	12277	19	C	A	A	23	23	PHLDB3	A	1	1
ZNF229	7772	broad.mit.edu	37	19	44933308	44933308	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44933308C>G	uc002oze.1	-	6	2082	c.1648G>C	c.(1648-1650)GGG>CGG	p.G550R	ZNF229_uc010ejk.1_Missense_Mutation_p.G204R|ZNF229_uc010ejl.1_Missense_Mutation_p.G544R	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	550	C2H2-type 9.				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		Missense_Mutation	SNP	44933308	44933308	18373	19	C	G	G	23	23	ZNF229	G	3	3
PPFIA3	8541	broad.mit.edu	37	19	49636538	49636538	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49636538C>T	uc002pmr.2	+	9	1403	c.1071C>T	c.(1069-1071)GCC>GCT	p.A357A	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.A281A|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.A225A	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	357	Potential.					cell surface|cytoplasm	protein binding			lung(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;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)														---	---	---	---	capture		Silent	SNP	49636538	49636538	12741	19	C	T	T	21	21	PPFIA3	T	2	2
U2AF2	11338	broad.mit.edu	37	19	56180887	56180887	+	Silent	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56180887G>C	uc002qlu.2	+	11	2177	c.1122G>C	c.(1120-1122)CCG>CCC	p.P374P	U2AF2_uc002qlt.2_Silent_p.P370P	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	374					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---	capture		Silent	SNP	56180887	56180887	17380	19	G	C	C	37	37	U2AF2	C	3	3
NLRP5	126206	broad.mit.edu	37	19	56539242	56539242	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56539242G>A	uc002qmj.2	+	7	1643	c.1643G>A	c.(1642-1644)GGT>GAT	p.G548D	NLRP5_uc002qmi.2_Missense_Mutation_p.G529D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	548	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---	capture		Missense_Mutation	SNP	56539242	56539242	10883	19	G	A	A	44	44	NLRP5	A	2	2
CMPK2	129607	broad.mit.edu	37	2	7003614	7003614	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7003614G>A	uc002qyo.2	-	2	880	c.771C>T	c.(769-771)ATC>ATT	p.I257I	CMPK2_uc010yis.1_Silent_p.I257I|CMPK2_uc010ewv.2_Silent_p.I257I	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	UMP-CMP kinase 2 precursor	257					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Silent	SNP	7003614	7003614	3719	2	G	A	A	37	37	CMPK2	A	1	1
FAM49A	81553	broad.mit.edu	37	2	16740772	16740772	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:16740772G>A	uc010exm.1	-	9	941	c.793C>T	c.(793-795)CAT>TAT	p.H265Y	FAM49A_uc002rck.1_Missense_Mutation_p.H265Y	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	265						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)															---	---	---	---	capture		Missense_Mutation	SNP	16740772	16740772	5797	2	G	A	A	47	47	FAM49A	A	2	2
SDC1	6382	broad.mit.edu	37	2	20403985	20403985	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20403985C>T	uc002rdo.1	-	3	515	c.216G>A	c.(214-216)ACG>ACA	p.T72T	SDC1_uc002rdp.1_Silent_p.T72T|SDC1_uc010exv.2_Silent_p.T72T|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	72	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)														---	---	---	---	capture		Silent	SNP	20403985	20403985	14436	2	C	T	T	23	23	SDC1	T	1	1
APOB	338	broad.mit.edu	37	2	21226033	21226033	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21226033C>A	uc002red.2	-	29	12389	c.12261G>T	c.(12259-12261)AAG>AAT	p.K4087N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4087					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	21226033	21226033	796	2	C	A	A	20	20	APOB	A	2	2
VIT	5212	broad.mit.edu	37	2	36986128	36986128	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36986128G>A	uc002rpl.2	+	6	647	c.426G>A	c.(424-426)AAG>AAA	p.K142K	VIT_uc002rpk.2_Silent_p.K135K|VIT_uc010ynf.1_Silent_p.K135K|VIT_uc002rpm.2_Silent_p.K135K|VIT_uc010ezv.2_Silent_p.K135K|VIT_uc010ezw.2_Silent_p.K135K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	142						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---	capture		Silent	SNP	36986128	36986128	17738	2	G	A	A	35	35	VIT	A	2	2
ATL2	64225	broad.mit.edu	37	2	38570414	38570414	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38570414T>C	uc002rqq.2	-	2	389	c.359A>G	c.(358-360)AAC>AGC	p.N120S	ATL2_uc010ynm.1_Missense_Mutation_p.N102S|ATL2_uc010ynn.1_Missense_Mutation_p.N102S|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.N120S|ATL2_uc002rqr.2_Intron	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	120	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	38570414	38570414	1126	2	T	C	C	60	60	ATL2	C	4	4
PSME4	23198	broad.mit.edu	37	2	54135695	54135695	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54135695T>C	uc002rxp.2	-	23	2693	c.2637A>G	c.(2635-2637)ATA>ATG	p.I879M	PSME4_uc010yop.1_Missense_Mutation_p.I765M|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.I254M|PSME4_uc010fbv.1_Missense_Mutation_p.I23M	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	879					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	54135695	54135695	13162	2	T	C	C	57	57	PSME4	C	4	4
CCDC85A	114800	broad.mit.edu	37	2	56419918	56419918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56419918C>T	uc002rzn.2	+	2	1085	c.583C>T	c.(583-585)CAA>TAA	p.Q195*		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	195										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---	capture		Nonsense_Mutation	SNP	56419918	56419918	2983	2	C	T	T	21	21	CCDC85A	T	5	2
ADD2	119	broad.mit.edu	37	2	70906069	70906069	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70906069G>C	uc002sgz.2	-	11	1615	c.1150C>G	c.(1150-1152)CGC>GGC	p.R384G	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.R384G|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.R384G|ADD2_uc010fdt.1_Missense_Mutation_p.R384G|ADD2_uc002shc.1_Missense_Mutation_p.R384G|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.R400G	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	384					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	70906069	70906069	306	2	G	C	C	37	37	ADD2	C	3	3
FIGLA	344018	broad.mit.edu	37	2	71012601	71012601	+	Silent	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71012601A>G	uc002she.1	-	3	560	c.555T>C	c.(553-555)GCT>GCC	p.A185A		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	factor in the germline alpha	185					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0																		---	---	---	---	capture		Silent	SNP	71012601	71012601	6128	2	A	G	G	3	3	FIGLA	G	4	4
LRRTM1	347730	broad.mit.edu	37	2	80529580	80529580	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529580G>T	uc002sok.1	-	2	1635	c.1365C>A	c.(1363-1365)GCC>GCA	p.A455A	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455	Cytoplasmic (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---	capture		Silent	SNP	80529580	80529580	9415	2	G	T	T	47	47	LRRTM1	T	2	2
TMEM131	23505	broad.mit.edu	37	2	98422075	98422075	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98422075C>G	uc002syh.3	-	20	2376	c.2147G>C	c.(2146-2148)CGA>CCA	p.R716P		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	716						integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	98422075	98422075	16575	2	C	G	G	31	31	TMEM131	G	3	3
MITD1	129531	broad.mit.edu	37	2	99797383	99797383	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99797383C>A	uc002szs.1	-	1	110	c.62G>T	c.(61-63)CGG>CTG	p.R21L	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron|MRPL30_uc002szt.1_5'Flank|MRPL30_uc002szu.2_5'Flank|MRPL30_uc002szv.2_5'Flank	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	21	MIT.				protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	99797383	99797383	9985	2	C	A	A	23	23	MITD1	A	1	1
SCTR	6344	broad.mit.edu	37	2	120252024	120252024	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120252024C>A	uc002tma.2	-	2	399	c.173G>T	c.(172-174)GGC>GTC	p.G58V		NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	58	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)													---	---	---	---	capture		Missense_Mutation	SNP	120252024	120252024	14426	2	C	A	A	26	26	SCTR	A	2	2
CCDC115	84317	broad.mit.edu	37	2	131096751	131096751	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131096751C>A	uc002tqy.1	-	5	709	c.485G>T	c.(484-486)CGA>CTA	p.R162L	CCDC115_uc002tqw.1_3'UTR|CCDC115_uc010zaf.1_3'UTR|CCDC115_uc002tqx.2_Missense_Mutation_p.R157L|CCDC115_uc002tqz.1_3'UTR	NM_032357	NP_115733	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	162	Potential.					endosome|lysosome					0	Colorectal(110;0.1)																	---	---	---	---	capture		Missense_Mutation	SNP	131096751	131096751	2872	2	C	A	A	31	31	CCDC115	A	1	1
ZEB2	9839	broad.mit.edu	37	2	145157027	145157027	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157027T>C	uc002tvu.2	-	8	2207	c.1727A>G	c.(1726-1728)AAC>AGC	p.N576S	ZEB2_uc002tvv.2_Missense_Mutation_p.N570S|ZEB2_uc010zbm.1_Missense_Mutation_p.N547S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N605S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	576						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---	capture		Missense_Mutation	SNP	145157027	145157027	18212	2	T	C	C	60	60	ZEB2	C	4	4
UPP2	151531	broad.mit.edu	37	2	158980362	158980362	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158980362G>T	uc002tzp.2	+	6	960	c.766G>T	c.(766-768)GAA>TAA	p.E256*	UPP2_uc002tzo.2_Nonsense_Mutation_p.E313*	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	256				ESTVFAA -> GIYSVCS (in Ref. 1; AAO61681).	nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	158980362	158980362	17574	2	G	T	T	41	41	UPP2	T	5	2
FAP	2191	broad.mit.edu	37	2	163072485	163072485	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163072485C>A	uc002ucd.2	-	10	997	c.789G>T	c.(787-789)CGG>CGT	p.R263R	FAP_uc010zct.1_Silent_p.R238R|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Silent_p.R230R	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	263	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	163072485	163072485	5909	2	C	A	A	30	30	FAP	A	2	2
KCNH7	90134	broad.mit.edu	37	2	163361029	163361029	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163361029G>T	uc002uch.1	-	6	1264	c.1052C>A	c.(1051-1053)CCT>CAT	p.P351H	KCNH7_uc002uci.2_Missense_Mutation_p.P344H	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	351	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---	capture		Missense_Mutation	SNP	163361029	163361029	8342	2	G	T	T	35	35	KCNH7	T	2	2
FIGN	55137	broad.mit.edu	37	2	164467420	164467420	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164467420G>C	uc002uck.1	-	3	1233	c.922C>G	c.(922-924)CTG>GTG	p.L308V		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	308						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	164467420	164467420	6129	2	G	C	C	33	33	FIGN	C	3	3
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	T	T	rs149579028	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166866283C>T	uc010zcz.1	-	20	3933	c.3915G>A	c.(3913-3915)AGG>AGA	p.R1305R	SCN1A_uc002udo.3_Silent_p.R1185R|SCN1A_uc010fpk.2_Silent_p.R1157R	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1316	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---	capture		Silent	SNP	166866283	166866283	14396	2	C	T	T	30	30	SCN1A	T	2	2
XIRP2	129446	broad.mit.edu	37	2	168104241	168104241	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168104241C>A	uc002udx.2	+	8	6357	c.6339C>A	c.(6337-6339)TCC>TCA	p.S2113S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S1938S|XIRP2_uc010fpq.2_Silent_p.S1891S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1938					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Silent	SNP	168104241	168104241	18011	2	C	A	A	21	21	XIRP2	A	2	2
FASTKD1	79675	broad.mit.edu	37	2	170387128	170387128	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170387128T>C	uc002uev.3	-	14	2799	c.2411A>G	c.(2410-2412)CAT>CGT	p.H804R	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.H747R	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	804	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	170387128	170387128	5921	2	T	C	C	51	51	FASTKD1	C	4	4
METTL8	79828	broad.mit.edu	37	2	172195693	172195693	+	Splice_Site	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172195693C>G	uc010zdo.1	-	4	747	c.606_splice	c.e4+1	p.E202_splice	METTL8_uc002ugu.3_Splice_Site_p.E202_splice|METTL8_uc002ugv.3_Splice_Site_p.E202_splice|METTL8_uc002ugt.3_Splice_Site_p.E202_splice|METTL8_uc002ugs.3_Splice_Site_p.E152_splice|METTL8_uc010zdp.1_Splice_Site_p.E157_splice	NM_024770	NP_079046			methyltransferase like 8								methyltransferase activity			ovary(1)	1																		---	---	---	---	capture		Splice_Site	SNP	172195693	172195693	9897	2	C	G	G	18	18	METTL8	G	5	3
ATF2	1386	broad.mit.edu	37	2	175962228	175962228	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175962228C>G	uc002ujl.2	-	11	1184	c.922G>C	c.(922-924)GAG>CAG	p.E308Q	ATF2_uc010fqv.2_Missense_Mutation_p.E259Q|ATF2_uc002ujv.2_Missense_Mutation_p.E55Q|ATF2_uc002ujm.2_Missense_Mutation_p.E250Q|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.E308Q|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.E290Q|ATF2_uc002ujs.2_Missense_Mutation_p.E250Q|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.E250Q|ATF2_uc002ujx.1_RNA	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	308					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)															---	---	---	---	capture		Missense_Mutation	SNP	175962228	175962228	1099	2	C	G	G	32	32	ATF2	G	3	3
TTN	7273	broad.mit.edu	37	2	179447023	179447023	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179447023C>T	uc010zfg.1	-	263	58680	c.58456G>A	c.(58456-58458)GAC>AAC	p.D19486N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13181N|TTN_uc010zfi.1_Missense_Mutation_p.D13114N|TTN_uc010zfj.1_Missense_Mutation_p.D12989N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20413							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179447023	179447023	17290	2	C	T	T	21	21	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179464030	179464030	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179464030C>T	uc010zfg.1	-	239	49010	c.48786G>A	c.(48784-48786)AAG>AAA	p.K16262K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K9957K|TTN_uc010zfi.1_Silent_p.K9890K|TTN_uc010zfj.1_Silent_p.K9765K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17189							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Silent	SNP	179464030	179464030	17290	2	C	T	T	32	32	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179476369	179476369	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179476369C>T	uc010zfg.1	-	218	43107	c.42883G>A	c.(42883-42885)GAT>AAT	p.D14295N	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D7990N|TTN_uc010zfi.1_Missense_Mutation_p.D7923N|TTN_uc010zfj.1_Missense_Mutation_p.D7798N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15222							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179476369	179476369	17290	2	C	T	T	29	29	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179477512	179477512	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179477512G>A	uc010zfg.1	-	214	42456	c.42232C>T	c.(42232-42234)CGG>TGG	p.R14078W	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R7773W|TTN_uc010zfi.1_Missense_Mutation_p.R7706W|TTN_uc010zfj.1_Missense_Mutation_p.R7581W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15005							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179477512	179477512	17290	2	G	A	A	39	39	TTN	A	1	1
TTN	7273	broad.mit.edu	37	2	179501173	179501173	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179501173G>A	uc010zfg.1	-	174	33801	c.33577C>T	c.(33577-33579)CGT>TGT	p.R11193C	TTN_uc010zfh.1_Missense_Mutation_p.R4888C|TTN_uc010zfi.1_Missense_Mutation_p.R4821C|TTN_uc010zfj.1_Missense_Mutation_p.R4696C|TTN_uc010fre.1_Missense_Mutation_p.R1054C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12120							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179501173	179501173	17290	2	G	A	A	40	40	TTN	A	1	1
TTN	7273	broad.mit.edu	37	2	179611819	179611819	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179611819A>T	uc002unb.2	-	46	15532	c.15308T>A	c.(15307-15309)CTA>CAA	p.L5103Q	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179611819	179611819	17290	2	A	T	T	15	15	TTN	T	4	4
CCDC141	285025	broad.mit.edu	37	2	179718318	179718318	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179718318C>T	uc002unf.1	-	10	1426	c.1369G>A	c.(1369-1371)GTT>ATT	p.V457I		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	457							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---	capture		Missense_Mutation	SNP	179718318	179718318	2895	2	C	T	T	20	20	CCDC141	T	2	2
DNAH7	56171	broad.mit.edu	37	2	196729651	196729651	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196729651T>A	uc002utj.3	-	41	6829	c.6728A>T	c.(6727-6729)GAA>GTA	p.E2243V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2243					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---	capture		Missense_Mutation	SNP	196729651	196729651	4789	2	T	A	A	62	62	DNAH7	A	4	4
SATB2	23314	broad.mit.edu	37	2	200233368	200233368	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200233368C>G	uc002uuy.1	-	6	1477	c.660G>C	c.(658-660)CAG>CAC	p.Q220H	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.Q220H|SATB2_uc002uva.1_Missense_Mutation_p.Q220H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	220						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	200233368	200233368	14335	2	C	G	G	24	24	SATB2	G	3	3
ZDBF2	57683	broad.mit.edu	37	2	207173228	207173228	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207173228G>A	uc002vbp.2	+	5	4226	c.3976G>A	c.(3976-3978)GAT>AAT	p.D1326N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1326							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	207173228	207173228	18187	2	G	A	A	45	45	ZDBF2	A	2	2
MAP2	4133	broad.mit.edu	37	2	210560172	210560172	+	Missense_Mutation	SNP	G	T	T	rs139654422	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210560172G>T	uc002vde.1	+	7	3526	c.3278G>T	c.(3277-3279)GGT>GTT	p.G1093V	MAP2_uc002vdc.1_Missense_Mutation_p.G1093V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G1089V	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1093					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---	capture		Missense_Mutation	SNP	210560172	210560172	9618	2	G	T	T	44	44	MAP2	T	2	2
CPS1	1373	broad.mit.edu	37	2	211438084	211438084	+	Missense_Mutation	SNP	T	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211438084T>G	uc002vee.3	+	2	321	c.189T>G	c.(187-189)CAT>CAG	p.H63Q	CPS1_uc010fur.2_Missense_Mutation_p.H69Q	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	63	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---	capture		Missense_Mutation	SNP	211438084	211438084	3961	2	T	G	G	50	50	CPS1	G	4	4
ERBB4	2066	broad.mit.edu	37	2	212248560	212248560	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212248560G>T	uc002veg.1	-	28	3805	c.3707C>A	c.(3706-3708)GCG>GAG	p.A1236E	ERBB4_uc002veh.1_Missense_Mutation_p.A1220E|ERBB4_uc010zji.1_Missense_Mutation_p.A1226E|ERBB4_uc010zjj.1_Missense_Mutation_p.A1210E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1236	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	212248560	212248560	5402	2	G	T	T	38	38	ERBB4	T	1	1
ABCA12	26154	broad.mit.edu	37	2	215875075	215875075	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215875075T>C	uc002vew.2	-	18	2672	c.2452A>G	c.(2452-2454)ACA>GCA	p.T818A	ABCA12_uc002vev.2_Missense_Mutation_p.T500A|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	818					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---	capture		Missense_Mutation	SNP	215875075	215875075	31	2	T	C	C	59	59	ABCA12	C	4	4
TNS1	7145	broad.mit.edu	37	2	218679638	218679638	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218679638G>T	uc002vgt.2	-	25	4812	c.4414C>A	c.(4414-4416)CAG>AAG	p.Q1472K	TNS1_uc002vgr.2_Missense_Mutation_p.Q1459K|TNS1_uc002vgs.2_Missense_Mutation_p.Q1451K|TNS1_uc002vgq.2_5'Flank	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1472	SH2.					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	218679638	218679638	16884	2	G	T	T	46	46	TNS1	T	2	2
PRKAG3	53632	broad.mit.edu	37	2	219694732	219694732	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219694732G>T	uc002vjb.1	-	4	621	c.602C>A	c.(601-603)TCC>TAC	p.S201Y	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S201Y|PRKAG3_uc010zko.1_Missense_Mutation_p.S197Y	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	201	CBS 1.				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	219694732	219694732	12945	2	G	T	T	41	41	PRKAG3	T	2	2
WNT6	7475	broad.mit.edu	37	2	219735919	219735919	+	Missense_Mutation	SNP	G	T	T	rs140404341		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219735919G>T	uc002vjc.1	+	2	466	c.251G>T	c.(250-252)CGC>CTC	p.R84L		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	84					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219735919	219735919	17967	2	G	T	T	38	38	WNT6	T	1	1
CUL3	8452	broad.mit.edu	37	2	225346609	225346609	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225346609C>A	uc002vny.2	-	14	2413	c.2029G>T	c.(2029-2031)GTT>TTT	p.V677F	CUL3_uc010zls.1_Missense_Mutation_p.V611F|CUL3_uc010fwy.1_Missense_Mutation_p.V683F	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	677					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---	capture		Missense_Mutation	SNP	225346609	225346609	4216	2	C	A	A	24	24	CUL3	A	2	2
COL4A3	1285	broad.mit.edu	37	2	228162414	228162414	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228162414C>A	uc002vom.1	+	42	3752	c.3590C>A	c.(3589-3591)CCA>CAA	p.P1197Q	COL4A3_uc002von.1_Missense_Mutation_p.P1197Q|COL4A3_uc002voo.1_Missense_Mutation_p.P1197Q|COL4A3_uc002vop.1_Missense_Mutation_p.P1197Q|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1197	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)														---	---	---	---	capture		Missense_Mutation	SNP	228162414	228162414	3829	2	C	A	A	21	21	COL4A3	A	2	2
SPHKAP	80309	broad.mit.edu	37	2	228884363	228884363	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228884363C>A	uc002vpq.2	-	7	1254	c.1207G>T	c.(1207-1209)GCA>TCA	p.A403S	SPHKAP_uc002vpp.2_Missense_Mutation_p.A403S|SPHKAP_uc010zlx.1_Missense_Mutation_p.A403S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	403						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	228884363	228884363	15560	2	C	A	A	25	25	SPHKAP	A	2	2
SLC16A14	151473	broad.mit.edu	37	2	230910733	230910733	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230910733A>G	uc002vqd.1	-	4	1472	c.1109T>C	c.(1108-1110)CTG>CCG	p.L370P	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.L370P|SLC16A14_uc002vqf.2_Missense_Mutation_p.L370P	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	370	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---	capture		Missense_Mutation	SNP	230910733	230910733	14903	2	A	G	G	7	7	SLC16A14	G	4	4
TRPM8	79054	broad.mit.edu	37	2	234869590	234869590	+	Silent	SNP	C	T	T	rs139460470		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234869590C>T	uc002vvh.2	+	12	1573	c.1533C>T	c.(1531-1533)ATC>ATT	p.I511I	TRPM8_uc010fyj.2_Silent_p.I199I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	511	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)													---	---	---	---	capture		Silent	SNP	234869590	234869590	17143	2	C	T	T	31	31	TRPM8	T	1	1
TMC2	117532	broad.mit.edu	37	20	2560663	2560663	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2560663C>A	uc002wgf.1	+	7	810	c.795C>A	c.(793-795)GTC>GTA	p.V265V	TMC2_uc002wgg.1_Silent_p.V249V|TMC2_uc010zpw.1_Silent_p.V97V|TMC2_uc010zpx.1_Silent_p.V96V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	265	Helical; (Potential).					integral to membrane				ovary(3)	3																		---	---	---	---	capture		Silent	SNP	2560663	2560663	16515	20	C	A	A	30	30	TMC2	A	2	2
PRND	23627	broad.mit.edu	37	20	4705266	4705266	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4705266G>T	uc002wkz.2	+	2	140	c.69G>T	c.(67-69)GCG>GCT	p.A23A		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	23					protein homooligomerization	anchored to membrane|plasma membrane					0																		---	---	---	---	capture		Silent	SNP	4705266	4705266	12986	20	G	T	T	39	39	PRND	T	1	1
SNX5	27131	broad.mit.edu	37	20	17930812	17930812	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17930812T>C	uc002wqc.2	-	8	841	c.755A>G	c.(754-756)CAT>CGT	p.H252R	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.H252R|SNX5_uc002wqe.2_Missense_Mutation_p.H147R|SNX5_uc010zrt.1_Missense_Mutation_p.H252R	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	252	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17930812	17930812	15405	20	T	C	C	51	51	SNX5	C	4	4
CST4	1472	broad.mit.edu	37	20	23666577	23666577	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23666577C>A	uc002wto.1	-	3	436	c.380G>T	c.(379-381)TGG>TTG	p.W127L		NM_001899	NP_001890	P01036	CYTS_HUMAN	cystatin S precursor	127						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)																	---	---	---	---	capture		Missense_Mutation	SNP	23666577	23666577	4115	20	C	A	A	21	21	CST4	A	2	2
GGTLC1	92086	broad.mit.edu	37	20	23967233	23967233	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23967233A>C	uc002wts.2	-	2	149	c.16T>G	c.(16-18)TTC>GTC	p.F6V	GGTLC1_uc002wtu.2_Missense_Mutation_p.F6V	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	6							gamma-glutamyltransferase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	23967233	23967233	6633	20	A	C	C	3	3	GGTLC1	C	4	4
ABHD12	26090	broad.mit.edu	37	20	25284237	25284237	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25284237G>T	uc002wus.1	-	11	1116	c.978C>A	c.(976-978)CTC>CTA	p.L326L	ABHD12_uc002wuq.2_Silent_p.L326L|ABHD12_uc002wur.2_Silent_p.L325L|ABHD12_uc002wut.1_Silent_p.L325L|ABHD12_uc002wuu.1_Silent_p.L106L	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	326	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	25284237	25284237	77	20	G	T	T	45	45	ABHD12	T	2	2
KIF3B	9371	broad.mit.edu	37	20	30898384	30898384	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30898384C>A	uc002wxq.2	+	2	971	c.804C>A	c.(802-804)ATC>ATA	p.I268I	KIF3B_uc010ztv.1_Silent_p.I268I|KIF3B_uc010ztw.1_Silent_p.I268I	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	268	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---	capture		Silent	SNP	30898384	30898384	8612	20	C	A	A	29	29	KIF3B	A	2	2
PPP1R16B	26051	broad.mit.edu	37	20	37464809	37464809	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37464809G>A	uc002xje.2	+	2	430	c.241G>A	c.(241-243)GCC>ACC	p.A81T	PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	81					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	37464809	37464809	12801	20	G	A	A	38	38	PPP1R16B	A	1	1
L3MBTL	26013	broad.mit.edu	37	20	42161437	42161437	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42161437G>A	uc010zwh.1	+	12	1289	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M	L3MBTL_uc002xkl.2_Missense_Mutation_p.V347M|L3MBTL_uc002xkm.2_Missense_Mutation_p.V347M|L3MBTL_uc010ggl.2_Missense_Mutation_p.V347M|L3MBTL_uc002xkn.1_Missense_Mutation_p.V106M|L3MBTL_uc002xko.2_Translation_Start_Site	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	347	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---	capture		Missense_Mutation	SNP	42161437	42161437	8914	20	G	A	A	44	44	L3MBTL	A	2	2
SPATA2	9825	broad.mit.edu	37	20	48522387	48522387	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48522387C>T	uc010gie.2	-	3	1682	c.1332G>A	c.(1330-1332)CCG>CCA	p.P444P	SPATA2_uc002xuw.2_Silent_p.P444P|SPATA2_uc010zyn.1_Silent_p.P307P	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	444					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)															---	---	---	---	capture		Silent	SNP	48522387	48522387	15513	20	C	T	T	27	27	SPATA2	T	1	1
ATP9A	10079	broad.mit.edu	37	20	50245527	50245527	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50245527C>T	uc002xwg.1	-	16	1753	c.1753G>A	c.(1753-1755)GAG>AAG	p.E585K	ATP9A_uc010gih.1_Missense_Mutation_p.E449K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	585	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	50245527	50245527	1217	20	C	T	T	30	30	ATP9A	T	2	2
CABLES2	81928	broad.mit.edu	37	20	60967462	60967462	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60967462C>T	uc002ycv.2	-	8	1081	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	358					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)															---	---	---	---	capture		Silent	SNP	60967462	60967462	2646	20	C	T	T	27	27	CABLES2	T	1	1
CABLES2	81928	broad.mit.edu	37	20	60967492	60967492	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60967492G>A	uc002ycv.2	-	8	1051	c.1044C>T	c.(1042-1044)TTC>TTT	p.F348F		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	348					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)															---	---	---	---	capture		Silent	SNP	60967492	60967492	2646	20	G	A	A	45	45	CABLES2	A	2	2
C20orf151	140893	broad.mit.edu	37	20	60987708	60987708	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60987708C>T	uc002ycw.1	-	13	2005	c.1848G>A	c.(1846-1848)AGG>AGA	p.R616R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	hypothetical protein LOC140893	616											0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)															---	---	---	---	capture		Silent	SNP	60987708	60987708	2168	20	C	T	T	30	30	C20orf151	T	2	2
PRIC285	85441	broad.mit.edu	37	20	62196189	62196189	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62196189C>A	uc002yfm.2	-	9	4878	c.3986G>T	c.(3985-3987)CGG>CTG	p.R1329L	PRIC285_uc002yfl.1_Missense_Mutation_p.R760L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1329					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---	capture		Missense_Mutation	SNP	62196189	62196189	12928	20	C	A	A	23	23	PRIC285	A	1	1
TPTE	7179	broad.mit.edu	37	21	10921956	10921956	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10921956G>T	uc002yip.1	-	18	1435	c.1067C>A	c.(1066-1068)TCT>TAT	p.S356Y	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S338Y|TPTE_uc002yir.1_Missense_Mutation_p.S318Y|TPTE_uc010gkv.1_Missense_Mutation_p.S218Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	10921956	10921956	16974	21	G	T	T	33	33	TPTE	T	2	2
HUNK	30811	broad.mit.edu	37	21	33368230	33368230	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33368230G>T	uc002yph.2	+	10	1815	c.1455G>T	c.(1453-1455)CGG>CGT	p.R485R		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	485					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	33368230	33368230	7758	21	G	T	T	41	41	HUNK	T	2	2
KRTAP10-5	386680	broad.mit.edu	37	21	45999822	45999822	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45999822T>C	uc002zfl.1	-	1	660	c.634A>G	c.(634-636)ACC>GCC	p.T212A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	212	22 X 5 AA repeats of C-C-X(3).|18.					keratin filament					0																		---	---	---	---	capture		Missense_Mutation	SNP	45999822	45999822	8827	21	T	C	C	59	59	KRTAP10-5	C	4	4
LARGE	9215	broad.mit.edu	37	22	33960856	33960856	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33960856C>A	uc003and.3	-	7	1344	c.765G>T	c.(763-765)TGG>TGT	p.W255C	LARGE_uc011amd.1_Missense_Mutation_p.W54C|LARGE_uc003ane.3_Missense_Mutation_p.W255C|LARGE_uc010gwp.2_Missense_Mutation_p.W255C|LARGE_uc011ame.1_Missense_Mutation_p.W187C|LARGE_uc011amf.1_Missense_Mutation_p.W255C|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	255	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)																---	---	---	---	capture		Missense_Mutation	SNP	33960856	33960856	8950	22	C	A	A	22	22	LARGE	A	2	2
CACNA1I	8911	broad.mit.edu	37	22	39996588	39996588	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39996588G>A	uc003ayc.2	+	3	412	c.412G>A	c.(412-414)GGG>AGG	p.G138R	CACNA1I_uc003ayd.2_Missense_Mutation_p.G138R|CACNA1I_uc003aye.2_Missense_Mutation_p.G53R|CACNA1I_uc003ayf.2_Missense_Mutation_p.G53R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	138	I.|Helical; Name=S2 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---	capture		Missense_Mutation	SNP	39996588	39996588	2662	22	G	A	A	43	43	CACNA1I	A	2	2
MOV10L1	54456	broad.mit.edu	37	22	50564637	50564637	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50564637A>T	uc003bjj.2	+	12	1837	c.1754A>T	c.(1753-1755)AAA>ATA	p.K585I	MOV10L1_uc003bjk.3_Missense_Mutation_p.K585I|MOV10L1_uc011arp.1_Missense_Mutation_p.K565I|MOV10L1_uc011arq.1_Missense_Mutation_p.K346I|MOV10L1_uc010hao.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	585					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---	capture		Missense_Mutation	SNP	50564637	50564637	10111	22	A	T	T	1	1	MOV10L1	T	4	4
SETD5	55209	broad.mit.edu	37	3	9490205	9490205	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9490205C>T	uc003brt.2	+	16	2672	c.2237C>T	c.(2236-2238)CCG>CTG	p.P746L	SETD5_uc003brs.1_Missense_Mutation_p.P727L|SETD5_uc003bru.2_Missense_Mutation_p.P648L|SETD5_uc003brv.2_Missense_Mutation_p.P635L|SETD5_uc010hck.2_Missense_Mutation_p.P228L|SETD5_uc003brx.2_Missense_Mutation_p.P415L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	746										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---	capture		Missense_Mutation	SNP	9490205	9490205	14623	3	C	T	T	23	23	SETD5	T	1	1
ZFYVE20	64145	broad.mit.edu	37	3	15118644	15118644	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15118644G>T	uc003bzm.1	-	12	1640	c.1026C>A	c.(1024-1026)AAC>AAA	p.N342K	ZFYVE20_uc010hek.1_Missense_Mutation_p.N342K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	342	Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	15118644	15118644	18256	3	G	T	T	44	44	ZFYVE20	T	2	2
PRSS42	339906	broad.mit.edu	37	3	46871929	46871929	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46871929C>T	uc011bap.1	-	5	847	c.847G>A	c.(847-849)GGG>AGG	p.G283R	PRSS42_uc003cqj.2_3'UTR	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	testis serine protease 2 precursor	283	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	46871929	46871929	13079	3	C	T	T	24	24	PRSS42	T	2	2
COL7A1	1294	broad.mit.edu	37	3	48628960	48628960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48628960G>A	uc003ctz.2	-	12	1574	c.1573C>T	c.(1573-1575)CGA>TGA	p.R525*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	525	Fibronectin type-III 4.|Nonhelical region (NC1).				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		Nonsense_Mutation	SNP	48628960	48628960	3842	3	G	A	A	38	38	COL7A1	A	5	1
BSN	8927	broad.mit.edu	37	3	49689698	49689698	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689698G>T	uc003cxe.3	+	5	2823	c.2709G>T	c.(2707-2709)ACG>ACT	p.T903T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	903					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---	capture		Silent	SNP	49689698	49689698	1561	3	G	T	T	39	39	BSN	T	1	1
SEMA3B	7869	broad.mit.edu	37	3	50311390	50311390	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50311390G>A	uc003cyu.2	+	12	1281	c.1039G>A	c.(1039-1041)GTG>ATG	p.V347M	SEMA3B_uc003cyt.2_Missense_Mutation_p.V346M|SEMA3B_uc003cyv.2_Missense_Mutation_p.V234M|SEMA3B_uc003cyw.2_Missense_Mutation_p.V70M|SEMA3B_uc010hli.2_Missense_Mutation_p.V239M|SEMA3B_uc003cyx.2_Missense_Mutation_p.V233M|SEMA3B_uc003cyy.2_Missense_Mutation_p.V4M|SEMA3B_uc011bdo.1_Missense_Mutation_p.V4M	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	347	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)												OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	50311390	50311390	14511	3	G	A	A	40	40	SEMA3B	A	1	1
PRICKLE2	166336	broad.mit.edu	37	3	64133035	64133035	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64133035G>A	uc003dmf.2	-	7	1717	c.1131C>T	c.(1129-1131)GAC>GAT	p.D377D		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	377						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---	capture		Silent	SNP	64133035	64133035	12930	3	G	A	A	48	48	PRICKLE2	A	2	2
TMF1	7110	broad.mit.edu	37	3	69097222	69097222	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69097222T>A	uc003dnn.2	-	2	881	c.634A>T	c.(634-636)AAT>TAT	p.N212Y	TMF1_uc011bfx.1_Missense_Mutation_p.N212Y	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	212					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	69097222	69097222	16768	3	T	A	A	61	61	TMF1	A	4	4
C3orf15	89876	broad.mit.edu	37	3	119426380	119426380	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119426380C>G	uc010hqx.1	+	3	408	c.331C>G	c.(331-333)CAC>GAC	p.H111D	C3orf15_uc003edc.2_Missense_Mutation_p.H111D|C3orf15_uc010hqy.1_Missense_Mutation_p.H111D|C3orf15_uc003ede.3_Missense_Mutation_p.H111D|C3orf15_uc010hqz.2_Missense_Mutation_p.H49D|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Missense_Mutation_p.H91D|C3orf15_uc010hra.1_5'UTR			Q7Z4T9	AAT1_HUMAN	RecName: Full=AMY-1-associating protein expressed in testis 1;          Short=AAT-1;	111						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	119426380	119426380	2301	3	C	G	G	17	17	C3orf15	G	3	3
HCLS1	3059	broad.mit.edu	37	3	121351918	121351918	+	Missense_Mutation	SNP	G	A	A	rs150723074	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121351918G>A	uc003eeh.3	-	11	1129	c.1004C>T	c.(1003-1005)CCG>CTG	p.P335L	HCLS1_uc011bjj.1_Missense_Mutation_p.P298L|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	335					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)														---	---	---	---	capture		Missense_Mutation	SNP	121351918	121351918	7277	3	G	A	A	39	39	HCLS1	A	1	1
CASR	846	broad.mit.edu	37	3	121976229	121976229	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121976229C>T	uc003eev.3	+	3	859	c.487C>T	c.(487-489)CCC>TCC	p.P163S	CASR_uc003eew.3_Missense_Mutation_p.P163S	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	163	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---	capture		Missense_Mutation	SNP	121976229	121976229	2801	3	C	T	T	30	30	CASR	T	2	2
KALRN	8997	broad.mit.edu	37	3	124356067	124356067	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124356067C>A	uc003ehg.2	+	37	5705	c.5578C>A	c.(5578-5580)CTA>ATA	p.L1860I	KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Missense_Mutation_p.L163I|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Intron	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1859					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	124356067	124356067	8279	3	C	A	A	28	28	KALRN	A	2	2
TMEM108	66000	broad.mit.edu	37	3	133099870	133099870	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133099870T>C	uc003eph.2	+	4	1589	c.1315T>C	c.(1315-1317)TGG>CGG	p.W439R	TMEM108_uc003epi.2_Missense_Mutation_p.W439R|TMEM108_uc003epj.1_Missense_Mutation_p.W439R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.W390R	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	439	Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	133099870	133099870	16554	3	T	C	C	55	55	TMEM108	C	4	4
XRN1	54464	broad.mit.edu	37	3	142037719	142037719	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142037719T>C	uc003eus.2	-	38	4495	c.4428A>G	c.(4426-4428)TTA>TTG	p.L1476L	XRN1_uc010huu.2_Silent_p.L943L|XRN1_uc003eut.2_Silent_p.L1476L|XRN1_uc003euu.2_Silent_p.L1477L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1476					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		Silent	SNP	142037719	142037719	18042	3	T	C	C	49	49	XRN1	C	4	4
CP	1356	broad.mit.edu	37	3	148895720	148895720	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148895720G>A	uc003ewy.3	-	17	3178	c.2925C>T	c.(2923-2925)CAC>CAT	p.H975H	CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.H127H|CP_uc003ewx.3_Silent_p.H756H|CP_uc003ewz.2_Silent_p.H975H	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	975	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---	capture		Silent	SNP	148895720	148895720	3925	3	G	A	A	40	40	CP	A	1	1
MED12L	116931	broad.mit.edu	37	3	150908645	150908645	+	Nonsense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150908645C>A	uc003eyp.2	+	13	1933	c.1895C>A	c.(1894-1896)TCA>TAA	p.S632*	MED12L_uc011bnz.1_Nonsense_Mutation_p.S492*|MED12L_uc003eyn.2_Nonsense_Mutation_p.S632*|MED12L_uc003eyo.2_Nonsense_Mutation_p.S632*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	632					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Nonsense_Mutation	SNP	150908645	150908645	9818	3	C	A	A	29	29	MED12L	A	5	2
PPM1L	151742	broad.mit.edu	37	3	160474330	160474330	+	Silent	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160474330C>G	uc003fdr.2	+	1	335	c.234C>G	c.(232-234)CTC>CTG	p.L78L		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	78	Cytoplasmic (Potential).				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)															---	---	---	---	capture		Silent	SNP	160474330	160474330	12779	3	C	G	G	31	31	PPM1L	G	3	3
MECOM	2122	broad.mit.edu	37	3	168819910	168819910	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168819910C>A	uc003ffi.3	-	10	2414	c.2145G>T	c.(2143-2145)AGG>AGT	p.R715S	MECOM_uc010hwk.1_Missense_Mutation_p.R729S|MECOM_uc003ffj.3_Missense_Mutation_p.R780S|MECOM_uc011bpi.1_Missense_Mutation_p.R707S|MECOM_uc003ffn.3_Missense_Mutation_p.R715S|MECOM_uc003ffk.2_Missense_Mutation_p.R706S|MECOM_uc003ffl.2_Missense_Mutation_p.R866S|MECOM_uc011bpj.1_Missense_Mutation_p.R903S|MECOM_uc011bpk.1_Missense_Mutation_p.R705S|MECOM_uc010hwn.2_Missense_Mutation_p.R894S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	715					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	168819910	168819910	9811	3	C	A	A	22	22	MECOM	A	2	2
NLGN1	22871	broad.mit.edu	37	3	173999027	173999027	+	Silent	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173999027A>G	uc003fio.1	+	7	2829	c.2406A>G	c.(2404-2406)GGA>GGG	p.G802G	NLGN1_uc003fip.1_Silent_p.G802G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	819	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---	capture		Silent	SNP	173999027	173999027	10864	3	A	G	G	11	11	NLGN1	G	4	4
CCDC39	339829	broad.mit.edu	37	3	180332791	180332791	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180332791G>T	uc010hxe.2	-	20	2859	c.2744C>A	c.(2743-2745)TCT>TAT	p.S915Y	CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	915	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---	capture		Missense_Mutation	SNP	180332791	180332791	2933	3	G	T	T	33	33	CCDC39	T	2	2
LRRC15	131578	broad.mit.edu	37	3	194080711	194080711	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194080711C>T	uc003ftu.2	-	2	1148	c.1062G>A	c.(1060-1062)CAG>CAA	p.Q354Q	LRRC15_uc003ftt.2_Silent_p.Q360Q	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	354	LRR 13.|Extracellular (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)														---	---	---	---	capture		Silent	SNP	194080711	194080711	9344	3	C	T	T	24	24	LRRC15	T	2	2
TNK2	10188	broad.mit.edu	37	3	195599179	195599179	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195599179G>A	uc003fvu.1	-	10	1962	c.1419C>T	c.(1417-1419)CGC>CGT	p.R473R	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Silent_p.R505R|TNK2_uc003fvt.1_Silent_p.R536R|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.R303R	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	473				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)													---	---	---	---	capture		Silent	SNP	195599179	195599179	16859	3	G	A	A	42	42	TNK2	A	2	2
PIGX	54965	broad.mit.edu	37	3	196449387	196449387	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196449387C>T	uc010iaj.2	+	3	436	c.155C>T	c.(154-156)CCG>CTG	p.P52L	PIGX_uc003fwx.3_Missense_Mutation_p.P52L|PIGX_uc011btx.1_RNA	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	93	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)														---	---	---	---	capture		Missense_Mutation	SNP	196449387	196449387	12327	3	C	T	T	23	23	PIGX	T	1	1
NKX3-2	579	broad.mit.edu	37	4	13544056	13544056	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13544056C>A	uc003gmx.2	-	2	639	c.563G>T	c.(562-564)GGG>GTG	p.G188V		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	188	Poly-Gly.				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	13544056	13544056	10859	4	C	A	A	22	22	NKX3-2	A	2	2
MED28	80306	broad.mit.edu	37	4	17625255	17625255	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17625255G>A	uc003gpi.1	+	4	383	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	MED28_uc003gpj.2_RNA	NM_025205	NP_079481	Q9H204	MED28_HUMAN	mediator complex subunit 28	124	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	17625255	17625255	9835	4	G	A	A	39	39	MED28	A	1	1
C4orf19	55286	broad.mit.edu	37	4	37591946	37591946	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37591946G>T	uc003gsw.3	+	4	452	c.269G>T	c.(268-270)GGA>GTA	p.G90V	C4orf19_uc003gsy.3_Missense_Mutation_p.G90V	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	90											0																		---	---	---	---	capture		Missense_Mutation	SNP	37591946	37591946	2348	4	G	T	T	41	41	C4orf19	T	2	2
COX7B2	170712	broad.mit.edu	37	4	46736987	46736987	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46736987G>T	uc003gxf.2	-	3	403	c.223C>A	c.(223-225)CCA>ACA	p.P75T	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	75	Mitochondrial intermembrane (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46736987	46736987	3921	4	G	T	T	43	43	COX7B2	T	2	2
FRYL	285527	broad.mit.edu	37	4	48584548	48584548	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48584548G>T	uc003gyh.1	-	20	2557	c.1952C>A	c.(1951-1953)GCA>GAA	p.A651E	FRYL_uc003gyk.2_Missense_Mutation_p.A651E	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	48584548	48584548	6314	4	G	T	T	46	46	FRYL	T	2	2
CWH43	80157	broad.mit.edu	37	4	49005876	49005876	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:49005876G>A	uc003gyv.2	+	7	1109	c.927G>A	c.(925-927)GGG>GGA	p.G309G	CWH43_uc011bzl.1_Silent_p.G282G	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	309					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	49005876	49005876	4233	4	G	A	A	41	41	CWH43	A	2	2
UGT2B4	7363	broad.mit.edu	37	4	70346381	70346381	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70346381T>C	uc003hek.3	-	6	1605	c.1558A>G	c.(1558-1560)AGA>GGA	p.R520G	UGT2B4_uc011cap.1_Missense_Mutation_p.R384G|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	520					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	70346381	70346381	17519	4	T	C	C	53	53	UGT2B4	C	4	4
UGT2B4	7363	broad.mit.edu	37	4	70346383	70346383	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70346383A>G	uc003hek.3	-	6	1603	c.1556T>C	c.(1555-1557)GTT>GCT	p.V519A	UGT2B4_uc011cap.1_Missense_Mutation_p.V383A|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	519					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	70346383	70346383	17519	4	A	G	G	2	2	UGT2B4	G	4	4
UGT2A1	10941	broad.mit.edu	37	4	70512823	70512823	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70512823T>C	uc003hem.3	-	1	603	c.540A>G	c.(538-540)GAA>GAG	p.E180E	UGT2A1_uc011caq.1_Silent_p.E180E|UGT2A1_uc010ihu.2_Silent_p.E180E|UGT2A1_uc010iht.2_Silent_p.E180E	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	180	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	70512823	70512823	17511	4	T	C	C	64	64	UGT2A1	C	4	4
SMR3A	26952	broad.mit.edu	37	4	71227859	71227859	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71227859C>A	uc003hfg.1	+	2	108	c.27C>A	c.(25-27)GGC>GGA	p.G9G	SMR3B_uc011cas.1_Silent_p.G9G	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	9						extracellular region					0		all_hematologic(202;0.196)																---	---	---	---	capture		Silent	SNP	71227859	71227859	15311	4	C	A	A	26	26	SMR3A	A	2	2
CXCL5	6374	broad.mit.edu	37	4	74863950	74863950	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74863950C>A	uc003hhk.2	-	2	333	c.215G>T	c.(214-216)GGC>GTC	p.G72V		NM_002994	NP_002985	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5 precursor	72					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity				0	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)															---	---	---	---	capture		Missense_Mutation	SNP	74863950	74863950	4247	4	C	A	A	26	26	CXCL5	A	2	2
SHROOM3	57619	broad.mit.edu	37	4	77662653	77662653	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77662653C>A	uc011cbx.1	+	5	4280	c.3327C>A	c.(3325-3327)CCC>CCA	p.P1109P	SHROOM3_uc011cbz.1_Silent_p.P933P|SHROOM3_uc003hkf.1_Silent_p.P984P|SHROOM3_uc003hkg.2_Silent_p.P887P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1109					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	77662653	77662653	14790	4	C	A	A	23	23	SHROOM3	A	1	1
BMPR1B	658	broad.mit.edu	37	4	96075765	96075765	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96075765G>A	uc003htm.3	+	13	1724	c.1450G>A	c.(1450-1452)GCC>ACC	p.A484T	BMPR1B_uc010ilb.2_Missense_Mutation_p.A484T|BMPR1B_uc003htn.3_Missense_Mutation_p.A484T	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	484	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---	capture		Missense_Mutation	SNP	96075765	96075765	1495	4	G	A	A	34	34	BMPR1B	A	2	2
COL25A1	84570	broad.mit.edu	37	4	109767295	109767295	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109767295C>T	uc003hze.1	-	27	2046	c.1515G>A	c.(1513-1515)CCG>CCA	p.P505P	COL25A1_uc003hzg.2_Silent_p.P505P|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Silent_p.P263P	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	505	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)														---	---	---	---	capture		Silent	SNP	109767295	109767295	3822	4	C	T	T	23	23	COL25A1	T	1	1
FAT4	79633	broad.mit.edu	37	4	126336607	126336607	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126336607T>C	uc003ifj.3	+	5	6489	c.6489T>C	c.(6487-6489)ATT>ATC	p.I2163I	FAT4_uc011cgp.1_Silent_p.I461I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2163	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---	capture		Silent	SNP	126336607	126336607	5928	4	T	C	C	61	61	FAT4	C	4	4
FAT4	79633	broad.mit.edu	37	4	126370860	126370860	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126370860A>G	uc003ifj.3	+	9	8689	c.8689A>G	c.(8689-8691)ACA>GCA	p.T2897A	FAT4_uc011cgp.1_Missense_Mutation_p.T1195A|FAT4_uc003ifi.1_Missense_Mutation_p.T375A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2897	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---	capture		Missense_Mutation	SNP	126370860	126370860	5928	4	A	G	G	2	2	FAT4	G	4	4
LRBA	987	broad.mit.edu	37	4	151765280	151765280	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151765280C>T	uc010ipj.2	-	28	5015	c.4541G>A	c.(4540-4542)CGG>CAG	p.R1514Q	LRBA_uc003ilt.3_Missense_Mutation_p.R173Q|LRBA_uc003ilu.3_Missense_Mutation_p.R1514Q	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1514						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	151765280	151765280	9304	4	C	T	T	23	23	LRBA	T	1	1
ASB5	140458	broad.mit.edu	37	4	177136798	177136798	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177136798G>C	uc003iuq.1	-	7	959	c.943C>G	c.(943-945)CAA>GAA	p.Q315E	ASB5_uc003iup.1_Missense_Mutation_p.Q262E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	315	SOCS box.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)														---	---	---	---	capture		Missense_Mutation	SNP	177136798	177136798	1044	4	G	C	C	48	48	ASB5	C	3	3
SLC6A18	348932	broad.mit.edu	37	5	1244359	1244359	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1244359C>G	uc003jby.1	+	10	1490	c.1367C>G	c.(1366-1368)GCC>GGC	p.A456G		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	456	Helical; Name=9; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	1244359	1244359	15178	5	C	G	G	26	26	SLC6A18	G	3	3
FBXL7	23194	broad.mit.edu	37	5	15936904	15936904	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15936904G>T	uc003jfn.1	+	4	1566	c.1085G>T	c.(1084-1086)CGG>CTG	p.R362L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	362	LRR 8.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	15936904	15936904	5961	5	G	T	T	39	39	FBXL7	T	1	1
CDH18	1016	broad.mit.edu	37	5	19571730	19571730	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19571730G>C	uc003jgc.2	-	7	1588	c.1211C>G	c.(1210-1212)ACA>AGA	p.T404R	CDH18_uc003jgd.2_Missense_Mutation_p.T404R|CDH18_uc011cnm.1_Missense_Mutation_p.T404R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	404	Extracellular (Potential).|Cadherin 4.				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	19571730	19571730	3232	5	G	C	C	48	48	CDH18	C	3	3
PRDM9	56979	broad.mit.edu	37	5	23527037	23527037	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23527037G>T	uc003jgo.2	+	11	2022	c.1840G>T	c.(1840-1842)GGG>TGG	p.G614W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	614	C2H2-type 5.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---	capture		Missense_Mutation	SNP	23527037	23527037	12906	5	G	T	T	47	47	PRDM9	T	2	2
CDH10	1008	broad.mit.edu	37	5	24535933	24535933	+	Splice_Site	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24535933T>C	uc003jgr.1	-	4	859	c.527_splice	c.e4-1	p.G176_splice	CDH10_uc011cnu.1_Splice_Site	NM_006727	NP_006718			cadherin 10, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---	capture		Splice_Site	SNP	24535933	24535933	3225	5	T	C	C	55	55	CDH10	C	5	4
C5orf22	55322	broad.mit.edu	37	5	31538493	31538493	+	Silent	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31538493A>G	uc003jhj.3	+	4	631	c.504A>G	c.(502-504)CAA>CAG	p.Q168Q	C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.3_Intron	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	168										ovary(2)	2																		---	---	---	---	capture		Silent	SNP	31538493	31538493	2383	5	A	G	G	3	3	C5orf22	G	4	4
POLK	51426	broad.mit.edu	37	5	74892912	74892912	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74892912G>T	uc003kdw.2	+	13	2490	c.2394G>T	c.(2392-2394)GTG>GTT	p.V798V	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.V600V|POLK_uc003kec.2_Silent_p.V708V|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.V708V	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	798	UBZ-type 2.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---	capture		Silent	SNP	74892912	74892912	12632	5	G	T	T	47	47	POLK	T	2	2
MAN2A1	4124	broad.mit.edu	37	5	109181686	109181686	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:109181686G>T	uc003kou.1	+	18	3784	c.2821G>T	c.(2821-2823)GGG>TGG	p.G941W		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	941	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)														---	---	---	---	capture		Missense_Mutation	SNP	109181686	109181686	9597	5	G	T	T	35	35	MAN2A1	T	2	2
RAD50	10111	broad.mit.edu	37	5	131953808	131953808	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131953808C>T	uc003kxi.2	+	21	3598	c.3211C>T	c.(3211-3213)CAT>TAT	p.H1071Y	RAD50_uc003kxh.2_Missense_Mutation_p.H932Y	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1071	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---	capture		Missense_Mutation	SNP	131953808	131953808	13444	5	C	T	T	29	29	RAD50	T	2	2
PCDHA1	56147	broad.mit.edu	37	5	140167658	140167658	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140167658C>T	uc003lhb.2	+	1	1783	c.1783C>T	c.(1783-1785)CGC>TGC	p.R595C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R595C	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	595	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140167658	140167658	11939	5	C	T	T	27	27	PCDHA1	T	1	1
PCDHB5	26167	broad.mit.edu	37	5	140516576	140516576	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516576C>T	uc003liq.2	+	1	1777	c.1560C>T	c.(1558-1560)TAC>TAT	p.Y520Y		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	520	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Silent	SNP	140516576	140516576	11965	5	C	T	T	19	19	PCDHB5	T	1	1
PCDHGA5	56110	broad.mit.edu	37	5	140745458	140745458	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140745458G>T	uc003lju.1	+	1	1561	c.1561G>T	c.(1561-1563)GAC>TAC	p.D521Y	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.D521Y	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	521	Extracellular (Potential).|Cadherin 5.				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	140745458	140745458	11977	5	G	T	T	37	37	PCDHGA5	T	1	1
PCDHGA12	26025	broad.mit.edu	37	5	140811929	140811929	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140811929C>T	uc003lkt.1	+	1	1772	c.1603C>T	c.(1603-1605)CGG>TGG	p.R535W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R535W	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140811929	140811929	11973	5	C	T	T	27	27	PCDHGA12	T	1	1
KCNIP1	30820	broad.mit.edu	37	5	170139878	170139878	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170139878C>A	uc003mas.2	+	2	611	c.82C>A	c.(82-84)CAG>AAG	p.Q28K	KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Intron|KCNIP1_uc010jjp.2_Intron|KCNIP1_uc010jjq.2_Intron	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	28					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	170139878	170139878	8344	5	C	A	A	21	21	KCNIP1	A	2	2
STC2	8614	broad.mit.edu	37	5	172752872	172752872	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172752872T>C	uc003mco.1	-	2	1603	c.293A>G	c.(292-294)CAG>CGG	p.Q98R	STC2_uc003mcn.1_Missense_Mutation_p.Q13R	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	98					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---	capture		Missense_Mutation	SNP	172752872	172752872	15796	5	T	C	C	55	55	STC2	C	4	4
HIVEP1	3096	broad.mit.edu	37	6	12123174	12123174	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12123174G>T	uc003nac.2	+	4	3325	c.3146G>T	c.(3145-3147)GGA>GTA	p.G1049V	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1049					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	12123174	12123174	7477	6	G	T	T	41	41	HIVEP1	T	2	2
RNF182	221687	broad.mit.edu	37	6	13977368	13977368	+	Silent	SNP	T	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13977368T>G	uc003nbe.2	+	3	436	c.18T>G	c.(16-18)CCT>CCG	p.P6P	RNF182_uc003nbf.2_Silent_p.P6P|RNF182_uc003nbg.2_Silent_p.P6P	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	6						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)															---	---	---	---	capture		Silent	SNP	13977368	13977368	13943	6	T	G	G	55	55	RNF182	G	4	4
HLA-G	3135	broad.mit.edu	37	6	29797253	29797253	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29797253G>T	uc003nnw.2	+	5	856	c.678G>T	c.(676-678)AGG>AGT	p.R226S	HLA-G_uc011dmb.1_Missense_Mutation_p.R198S|HLA-G_uc003raj.3_Missense_Mutation_p.R231S|HLA-G_uc003nnz.3_Missense_Mutation_p.R134S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	226	Extracellular (Potential).|Ig-like C1-type.|Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	29797253	29797253	7503	6	G	T	T	44	44	HLA-G	T	2	2
CCHCR1	54535	broad.mit.edu	37	6	31110877	31110877	+	Missense_Mutation	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31110877T>C	uc003nsr.3	-	17	2210	c.2087A>G	c.(2086-2088)TAC>TGC	p.Y696C	CCHCR1_uc011dne.1_Intron|CCHCR1_uc003nsq.3_Missense_Mutation_p.Y749C|CCHCR1_uc003nsp.3_Missense_Mutation_p.Y785C	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	696					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	31110877	31110877	3002	6	T	C	C	57	57	CCHCR1	C	4	4
BAT3	7917	broad.mit.edu	37	6	31608925	31608925	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31608925C>A	uc003nvg.3	-	19	2967	c.2653G>T	c.(2653-2655)GGG>TGG	p.G885W	BAT3_uc003nvf.3_Missense_Mutation_p.G879W|BAT3_uc003nvh.3_Missense_Mutation_p.G879W|BAT3_uc003nvi.3_Missense_Mutation_p.G879W|BAT3_uc011dnw.1_Missense_Mutation_p.G879W|BAT3_uc011dnx.1_Missense_Mutation_p.G753W	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	885					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31608925	31608925	1343	6	C	A	A	22	22	BAT3	A	2	2
PI16	221476	broad.mit.edu	37	6	36929663	36929663	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36929663G>A	uc003ona.2	+	4	833	c.505G>A	c.(505-507)GGG>AGG	p.G169R	PI16_uc003omz.1_Missense_Mutation_p.G169R|PI16_uc003onb.2_Missense_Mutation_p.G169R|PI16_uc011dts.1_5'UTR	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	169	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	36929663	36929663	12293	6	G	A	A	43	43	PI16	A	2	2
TRERF1	55809	broad.mit.edu	37	6	42227438	42227438	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42227438C>A	uc003osd.2	-	9	2471	c.1908G>T	c.(1906-1908)CCG>CCT	p.P636P	TRERF1_uc011duq.1_Silent_p.P553P|TRERF1_uc003osb.2_Silent_p.P392P|TRERF1_uc003osc.2_Silent_p.P392P|TRERF1_uc003ose.2_Silent_p.P656P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	636	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---	capture		Silent	SNP	42227438	42227438	17019	6	C	A	A	31	31	TRERF1	A	1	1
C6orf154	221424	broad.mit.edu	37	6	43475243	43475243	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43475243C>T	uc003ovk.1	-	5	1732	c.831G>A	c.(829-831)CGG>CGA	p.R277R	C6orf154_uc003ovj.1_Silent_p.R86R	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	277											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---	capture		Silent	SNP	43475243	43475243	2443	6	C	T	T	22	22	C6orf154	T	2	2
TDRD6	221400	broad.mit.edu	37	6	46658129	46658129	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658129G>T	uc003oyj.2	+	1	2264	c.2264G>T	c.(2263-2265)TGC>TTC	p.C755F	TDRD6_uc010jze.2_Missense_Mutation_p.C749F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	755					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---	capture		Missense_Mutation	SNP	46658129	46658129	16261	6	G	T	T	46	46	TDRD6	T	2	2
GPR116	221395	broad.mit.edu	37	6	46828476	46828476	+	Silent	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46828476G>C	uc003oyo.3	-	16	2644	c.2355C>G	c.(2353-2355)ACC>ACG	p.T785T	GPR116_uc011dwj.1_Silent_p.T340T|GPR116_uc011dwk.1_Silent_p.T214T|GPR116_uc003oyp.3_Silent_p.T643T|GPR116_uc003oyq.3_Silent_p.T785T|GPR116_uc010jzi.1_Silent_p.T457T	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	785	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---	capture		Silent	SNP	46828476	46828476	6907	6	G	C	C	43	43	GPR116	C	3	3
GPR110	266977	broad.mit.edu	37	6	46991822	46991822	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46991822G>C	uc003oyt.2	-	5	608	c.409C>G	c.(409-411)CTC>GTC	p.L137V	GPR110_uc011dwl.1_Translation_Start_Site|GPR110_uc003oyu.1_Missense_Mutation_p.L137V	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	137	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	46991822	46991822	6901	6	G	C	C	33	33	GPR110	C	3	3
CRISP2	7180	broad.mit.edu	37	6	49665584	49665584	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49665584T>A	uc003ozq.2	-	8	760	c.504A>T	c.(502-504)CAA>CAT	p.Q168H	CRISP2_uc003ozl.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozn.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozr.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozo.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozm.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozp.2_Missense_Mutation_p.Q168H	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	168						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---	capture		Missense_Mutation	SNP	49665584	49665584	4019	6	T	A	A	52	52	CRISP2	A	4	4
PKHD1	5314	broad.mit.edu	37	6	51920404	51920404	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51920404C>G	uc003pah.1	-	19	2093	c.1817G>C	c.(1816-1818)CGG>CCG	p.R606P	PKHD1_uc003pai.2_Missense_Mutation_p.R606P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	606	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51920404	51920404	12396	6	C	G	G	23	23	PKHD1	G	3	3
PAQR8	85315	broad.mit.edu	37	6	52268189	52268189	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52268189C>A	uc003pao.3	+	2	352	c.178C>A	c.(178-180)CAC>AAC	p.H60N		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	60	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)																	---	---	---	---	capture		Missense_Mutation	SNP	52268189	52268189	11858	6	C	A	A	25	25	PAQR8	A	2	2
LGSN	51557	broad.mit.edu	37	6	63995609	63995609	+	Silent	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63995609A>G	uc003peh.2	-	3	247	c.213T>C	c.(211-213)TCT>TCC	p.S71S	LGSN_uc003pei.2_Silent_p.S71S|LGSN_uc003pej.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	71					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Silent	SNP	63995609	63995609	9085	6	A	G	G	15	15	LGSN	G	4	4
COL19A1	1310	broad.mit.edu	37	6	70639375	70639375	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70639375A>C	uc003pfc.1	+	6	566	c.449A>C	c.(448-450)GAG>GCG	p.E150A	COL19A1_uc010kam.1_Missense_Mutation_p.E46A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	150	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	70639375	70639375	3814	6	A	C	C	11	11	COL19A1	C	4	4
MYO6	4646	broad.mit.edu	37	6	76545620	76545620	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76545620A>T	uc003pih.1	+	7	779	c.500A>T	c.(499-501)TAC>TTC	p.Y167F	MYO6_uc003pig.1_Missense_Mutation_p.Y167F|MYO6_uc003pii.1_Missense_Mutation_p.Y167F	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	167	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	76545620	76545620	10476	6	A	T	T	14	14	MYO6	T	4	4
ZNF292	23036	broad.mit.edu	37	6	87969153	87969153	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87969153G>C	uc003plm.3	+	8	5847	c.5806G>C	c.(5806-5808)GAA>CAA	p.E1936Q		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1936					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)														---	---	---	---	capture		Missense_Mutation	SNP	87969153	87969153	18418	6	G	C	C	45	45	ZNF292	C	3	3
SPACA1	81833	broad.mit.edu	37	6	88769251	88769251	+	Silent	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88769251A>C	uc003pmn.2	+	5	672	c.555A>C	c.(553-555)ACA>ACC	p.T185T		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	185	Extracellular (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)														---	---	---	---	capture		Silent	SNP	88769251	88769251	15473	6	A	C	C	6	6	SPACA1	C	4	4
GPR6	2830	broad.mit.edu	37	6	110300817	110300817	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300817C>A	uc011eaw.1	+	2	682	c.502C>A	c.(502-504)CTG>ATG	p.L168M	GPR6_uc011eav.1_Missense_Mutation_p.L183M|GPR6_uc003ptu.2_Missense_Mutation_p.L168M	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	168	Cytoplasmic (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)														---	---	---	---	capture		Missense_Mutation	SNP	110300817	110300817	6976	6	C	A	A	24	24	GPR6	A	2	2
FRK	2444	broad.mit.edu	37	6	116289834	116289834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116289834G>A	uc003pwi.1	-	3	982	c.535C>T	c.(535-537)CGA>TGA	p.R179*		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	179	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)														---	---	---	---	capture		Nonsense_Mutation	SNP	116289834	116289834	6298	6	G	A	A	38	38	FRK	A	5	1
C6orf174	387104	broad.mit.edu	37	6	127797137	127797137	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127797137G>T	uc003qbd.2	-	6	2899	c.2034C>A	c.(2032-2034)AAC>AAA	p.N678K	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	678	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---	capture		Missense_Mutation	SNP	127797137	127797137	2450	6	G	T	T	48	48	C6orf174	T	2	2
LAMA2	3908	broad.mit.edu	37	6	129807696	129807696	+	Silent	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129807696T>A	uc003qbn.2	+	55	7932	c.7827T>A	c.(7825-7827)ATT>ATA	p.I2609I	LAMA2_uc003qbo.2_Silent_p.I2605I|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2609	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---	capture		Silent	SNP	129807696	129807696	8929	6	T	A	A	63	63	LAMA2	A	4	4
IL20RA	53832	broad.mit.edu	37	6	137323265	137323265	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137323265C>T	uc003qhj.2	-	7	1525	c.1092G>A	c.(1090-1092)TCG>TCA	p.S364S	IL20RA_uc011edl.1_Silent_p.S315S|IL20RA_uc003qhk.2_Silent_p.S253S|IL20RA_uc003qhi.2_Silent_p.S96S	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	364	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)														---	---	---	---	capture		Silent	SNP	137323265	137323265	7969	6	C	T	T	27	27	IL20RA	T	1	1
FNDC1	84624	broad.mit.edu	37	6	159653564	159653564	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159653564C>G	uc010kjv.2	+	11	2220	c.2020C>G	c.(2020-2022)CGC>GGC	p.R674G	FNDC1_uc010kjw.1_Missense_Mutation_p.R559G	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	674	Ser-rich.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---	capture		Missense_Mutation	SNP	159653564	159653564	6210	6	C	G	G	23	23	FNDC1	G	3	3
SLC22A1	6580	broad.mit.edu	37	6	160555075	160555075	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160555075G>T	uc003qtc.2	+	4	862	c.757G>T	c.(757-759)GGG>TGG	p.G253W	SLC22A1_uc003qtd.2_Missense_Mutation_p.G253W	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	253	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)														---	---	---	---	capture		Missense_Mutation	SNP	160555075	160555075	14936	6	G	T	T	39	39	SLC22A1	T	1	1
NUDT1	4521	broad.mit.edu	37	7	2290629	2290629	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2290629C>T	uc003slp.1	+	5	635	c.533C>T	c.(532-534)ACG>ATG	p.T178M	NUDT1_uc003slq.1_Missense_Mutation_p.T155M|NUDT1_uc003slr.1_Missense_Mutation_p.T155M|NUDT1_uc003sls.1_Missense_Mutation_p.T178M|NUDT1_uc003slt.1_Missense_Mutation_p.T155M|NUDT1_uc003slu.1_Missense_Mutation_p.T178M|NUDT1_uc003slv.1_Missense_Mutation_p.T155M	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	196					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)									Direct_reversal_of_damage|Modulation_of_nucleotide_pools					---	---	---	---	capture		Missense_Mutation	SNP	2290629	2290629	11130	7	C	T	T	19	19	NUDT1	T	1	1
GPR141	353345	broad.mit.edu	37	7	37780012	37780012	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37780012C>A	uc003tfm.1	+	1	17	c.17C>A	c.(16-18)ACC>AAC	p.T6N	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	6	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37780012	37780012	6923	7	C	A	A	18	18	GPR141	A	2	2
POM121L12	285877	broad.mit.edu	37	7	53103474	53103474	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53103474C>T	uc003tpz.2	+	1	126	c.110C>T	c.(109-111)CCC>CTC	p.P37L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	37											0																		---	---	---	---	capture		Missense_Mutation	SNP	53103474	53103474	12669	7	C	T	T	22	22	POM121L12	T	2	2
STAG3L4	64940	broad.mit.edu	37	7	66774573	66774573	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66774573G>T	uc003tvt.3	+	4	582	c.315G>T	c.(313-315)CTG>CTT	p.L105L	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	105											0		Lung NSC(55;0.0839)|all_lung(88;0.181)																---	---	---	---	capture		Silent	SNP	66774573	66774573	15766	7	G	T	T	47	47	STAG3L4	T	2	2
FKBP6	8468	broad.mit.edu	37	7	72742586	72742586	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72742586C>T	uc003tya.2	+	2	198	c.66C>T	c.(64-66)TAC>TAT	p.Y22Y	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y17Y|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	22					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---	capture		Silent	SNP	72742586	72742586	6150	7	C	T	T	19	19	FKBP6	T	1	1
SEMA3E	9723	broad.mit.edu	37	7	83023654	83023654	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83023654C>A	uc003uhy.1	-	13	1925	c.1459G>T	c.(1459-1461)GAT>TAT	p.D487Y		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	487	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)																---	---	---	---	capture		Missense_Mutation	SNP	83023654	83023654	14514	7	C	A	A	30	30	SEMA3E	A	2	2
CDK14	5218	broad.mit.edu	37	7	90226026	90226026	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90226026C>A	uc003uky.2	+	1	307	c.85C>A	c.(85-87)CGC>AGC	p.R29S	CDK14_uc003ukt.1_Intron|CDK14_uc003ukv.1_Intron|CDK14_uc003uku.1_Intron|CDK14_uc003ukx.1_Intron	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	29					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	90226026	90226026	3259	7	C	A	A	31	31	CDK14	A	1	1
HEPACAM2	253012	broad.mit.edu	37	7	92837893	92837893	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92837893C>T	uc003umm.2	-	4	1035	c.1012G>A	c.(1012-1014)GGA>AGA	p.G338R	HEPACAM2_uc003uml.2_Missense_Mutation_p.G326R|HEPACAM2_uc010lff.2_Missense_Mutation_p.G326R|HEPACAM2_uc011khy.1_Missense_Mutation_p.G361R	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	338	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	92837893	92837893	7336	7	C	T	T	24	24	HEPACAM2	T	2	2
BUD31	8896	broad.mit.edu	37	7	99013774	99013774	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99013774G>A	uc003uqf.2	+	4	309	c.108G>A	c.(106-108)CCG>CCA	p.P36P	BUD31_uc011kiu.1_Silent_p.P36P|BUD31_uc011kiv.1_Silent_p.P36P|BUD31_uc003uqg.3_Silent_p.P36P	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	36					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Silent	SNP	99013774	99013774	1608	7	G	A	A	38	38	BUD31	A	1	1
CYP3A43	64816	broad.mit.edu	37	7	99441866	99441866	+	Splice_Site	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99441866G>A	uc003urx.1	+	4	421	c.318_splice	c.e4+1	p.M106_splice	CYP3A43_uc003ury.1_Splice_Site_p.M106_splice|CYP3A43_uc003urz.1_Splice_Site_p.M106_splice|CYP3A43_uc003usa.1_Splice_Site|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436			cytochrome P450, family 3, subfamily A,						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)													---	---	---	---	capture		Splice_Site	SNP	99441866	99441866	4344	7	G	A	A	44	44	CYP3A43	A	5	2
ZAN	7455	broad.mit.edu	37	7	100385658	100385658	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100385658G>A	uc003uwj.2	+	39	7292	c.7127G>A	c.(7126-7128)CGC>CAC	p.R2376H	ZAN_uc003uwk.2_Missense_Mutation_p.R2376H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R426H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2376	VWFD 4.|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	100385658	100385658	18096	7	G	A	A	38	38	ZAN	A	1	1
ST7	7982	broad.mit.edu	37	7	116739883	116739883	+	Silent	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116739883A>T	uc003vin.2	+	2	433	c.219A>T	c.(217-219)ATA>ATT	p.I73I	ST7_uc011knl.1_Silent_p.I73I|ST7_uc003vio.2_Silent_p.I73I|ST7_uc003viq.2_Silent_p.I27I|ST7_uc011knm.1_Silent_p.I30I|ST7_uc003vir.2_Silent_p.I21I|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Silent_p.I21I	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	73	Helical; (Potential).					integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---	capture		Silent	SNP	116739883	116739883	15747	7	A	T	T	16	16	ST7	T	4	4
WASL	8976	broad.mit.edu	37	7	123332580	123332580	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123332580C>A	uc003vkz.2	-	9	1496	c.1168G>T	c.(1168-1170)GGC>TGC	p.G390C		NM_003941	NP_003932	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome gene-like protein	390	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	123332580	123332580	17828	7	C	A	A	21	21	WASL	A	2	2
PLXNA4	91584	broad.mit.edu	37	7	131865381	131865381	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131865381G>T	uc003vra.3	-	19	3832	c.3603C>A	c.(3601-3603)TGC>TGA	p.C1201*		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1201	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	131865381	131865381	12548	7	G	T	T	38	38	PLXNA4	T	5	1
DGKI	9162	broad.mit.edu	37	7	137531210	137531210	+	Nonsense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137531210G>T	uc003vtt.2	-	1	400	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	133					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	137531210	137531210	4650	7	G	T	T	48	48	DGKI	T	5	2
ATP6V0A4	50617	broad.mit.edu	37	7	138394385	138394385	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138394385C>T	uc003vuf.2	-	20	2651	c.2413G>A	c.(2413-2415)GCC>ACC	p.A805T	ATP6V0A4_uc003vug.2_Missense_Mutation_p.A805T|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.A805T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	805	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	138394385	138394385	1189	7	C	T	T	27	27	ATP6V0A4	T	1	1
KIAA1549	57670	broad.mit.edu	37	7	138566135	138566135	+	Silent	SNP	T	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138566135T>G	uc011kql.1	-	11	4277	c.4228A>C	c.(4228-4230)AGA>CGA	p.R1410R	KIAA1549_uc011kqi.1_Silent_p.R194R|KIAA1549_uc003vuk.3_Silent_p.R1360R|KIAA1549_uc011kqj.1_Silent_p.R1410R|KIAA1549_uc011kqk.1_Silent_p.R194R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1410						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---	capture		Silent	SNP	138566135	138566135	8553	7	T	G	G	56	56	KIAA1549	G	4	4
HIPK2	28996	broad.mit.edu	37	7	139257879	139257879	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139257879C>T	uc003vvf.3	-	15	3565	c.3391G>A	c.(3391-3393)GTG>ATG	p.V1131M	HIPK2_uc003vvd.3_Missense_Mutation_p.V1104M	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	1131	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)																	---	---	---	---	capture		Missense_Mutation	SNP	139257879	139257879	7402	7	C	T	T	19	19	HIPK2	T	1	1
CLCN1	1180	broad.mit.edu	37	7	143039089	143039089	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143039089G>T	uc003wcr.1	+	15	1737	c.1650G>T	c.(1648-1650)ACG>ACT	p.T550T	CLCN1_uc011ktc.1_Silent_p.T162T	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	550					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---	capture		Silent	SNP	143039089	143039089	3598	7	G	T	T	39	39	CLCN1	T	1	1
TAS2R60	338398	broad.mit.edu	37	7	143141257	143141257	+	Missense_Mutation	SNP	A	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143141257A>G	uc011ktg.1	+	1	712	c.712A>G	c.(712-714)AGT>GGT	p.S238G	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	238	Helical; Name=6; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)																	---	---	---	---	capture		Missense_Mutation	SNP	143141257	143141257	16107	7	A	G	G	7	7	TAS2R60	G	4	4
OR2A5	393046	broad.mit.edu	37	7	143748276	143748276	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143748276C>T	uc011ktw.1	+	1	782	c.782C>T	c.(781-783)GCC>GTC	p.A261V		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)																	---	---	---	---	capture		Missense_Mutation	SNP	143748276	143748276	11387	7	C	T	T	26	26	OR2A5	T	2	2
ABP1	26	broad.mit.edu	37	7	150554701	150554701	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150554701C>T	uc003why.1	+	3	5361	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	ABP1_uc003whz.1_Silent_p.V381V|ABP1_uc003wia.1_Silent_p.V381V	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	381					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---	capture		Silent	SNP	150554701	150554701	99	7	C	T	T	29	29	ABP1	T	2	2
KCNH2	3757	broad.mit.edu	37	7	150644067	150644067	+	Silent	SNP	G	A	A	rs41312087	byFrequency	TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150644067G>A	uc003wic.2	-	14	3241	c.3228C>T	c.(3226-3228)CCC>CCT	p.P1076P	KCNH2_uc003wib.2_Silent_p.P736P|KCNH2_uc011kux.1_Silent_p.P980P	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	1076	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)													---	---	---	---	capture		Silent	SNP	150644067	150644067	8337	7	G	A	A	39	39	KCNH2	A	1	1
ABCF2	10061	broad.mit.edu	37	7	150916197	150916197	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150916197G>A	uc003wjp.2	-	8	1081	c.970C>T	c.(970-972)CAG>TAG	p.Q324*	ABCF2_uc003wjo.1_Nonsense_Mutation_p.Q324*	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	324	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Nonsense_Mutation	SNP	150916197	150916197	67	7	G	A	A	47	47	ABCF2	A	5	2
CSMD1	64478	broad.mit.edu	37	8	4495076	4495076	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:4495076C>A	uc011kwk.1	-	2	480	c.90G>T	c.(88-90)CAG>CAT	p.Q30H		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	30	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	4495076	4495076	4085	8	C	A	A	32	32	CSMD1	A	2	2
DLC1	10395	broad.mit.edu	37	8	12957314	12957314	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12957314G>A	uc003wwm.2	-	9	2976	c.2532C>T	c.(2530-2532)CAC>CAT	p.H844H	DLC1_uc003wwk.1_Silent_p.H407H|DLC1_uc003wwl.1_Silent_p.H441H|DLC1_uc011kxx.1_Silent_p.H333H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	844					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---	capture		Silent	SNP	12957314	12957314	4730	8	G	A	A	40	40	DLC1	A	1	1
SLC7A2	6542	broad.mit.edu	37	8	17415842	17415842	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17415842G>T	uc011kyc.1	+	8	1403	c.1234G>T	c.(1234-1236)GAC>TAC	p.D412Y	SLC7A2_uc011kyd.1_Missense_Mutation_p.D451Y|SLC7A2_uc011kye.1_Missense_Mutation_p.D452Y|SLC7A2_uc011kyf.1_Missense_Mutation_p.D412Y	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	412	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---	capture		Missense_Mutation	SNP	17415842	17415842	15194	8	G	T	T	41	41	SLC7A2	T	2	2
LZTS1	11178	broad.mit.edu	37	8	20112359	20112359	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20112359G>C	uc003wzr.2	-	1	445	c.334C>G	c.(334-336)CAG>GAG	p.Q112E	LZTS1_uc010ltg.1_Missense_Mutation_p.Q112E	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	112					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)														---	---	---	---	capture		Missense_Mutation	SNP	20112359	20112359	9515	8	G	C	C	45	45	LZTS1	C	3	3
TMEM66	51669	broad.mit.edu	37	8	29927377	29927377	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29927377A>T	uc003xhs.2	-	3	665	c.481T>A	c.(481-483)TAT>AAT	p.Y161N	TMEM66_uc003xht.2_Missense_Mutation_p.Y161N|TMEM66_uc003xhu.2_Missense_Mutation_p.Y125N|TMEM66_uc003xhv.2_5'UTR	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	161						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	29927377	29927377	16734	8	A	T	T	13	13	TMEM66	T	4	4
WHSC1L1	54904	broad.mit.edu	37	8	38189054	38189054	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38189054C>A	uc003xli.2	-	5	1478	c.960G>T	c.(958-960)GCG>GCT	p.A320A	WHSC1L1_uc011lbm.1_Silent_p.A320A|WHSC1L1_uc010lwe.2_Silent_p.A320A|WHSC1L1_uc003xlj.2_Silent_p.A320A	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	320	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---	capture		Silent	SNP	38189054	38189054	17937	8	C	A	A	19	19	WHSC1L1	A	1	1
RP1	6101	broad.mit.edu	37	8	55542501	55542501	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55542501A>C	uc003xsd.1	+	4	6207	c.6059A>C	c.(6058-6060)AAT>ACT	p.N2020T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2020					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		Missense_Mutation	SNP	55542501	55542501	14011	8	A	C	C	4	4	RP1	C	4	4
FAM110B	90362	broad.mit.edu	37	8	59059454	59059454	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59059454C>A	uc003xtj.1	+	5	1545	c.665C>A	c.(664-666)CCT>CAT	p.P222H		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	222						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)																---	---	---	---	capture		Missense_Mutation	SNP	59059454	59059454	5594	8	C	A	A	24	24	FAM110B	A	2	2
ARMC1	55156	broad.mit.edu	37	8	66525572	66525572	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66525572C>T	uc003xvl.2	-	4	607	c.372G>A	c.(370-372)ATG>ATA	p.M124I	ARMC1_uc011leo.1_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	124					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	66525572	66525572	967	8	C	T	T	29	29	ARMC1	T	2	2
CSPP1	79848	broad.mit.edu	37	8	68049816	68049816	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68049816G>T	uc003xxi.2	+	17	2074	c.2043G>T	c.(2041-2043)AGG>AGT	p.R681S	CSPP1_uc003xxg.1_Missense_Mutation_p.R673S|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R646S|CSPP1_uc003xxk.2_Missense_Mutation_p.R352S	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	681						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---	capture		Missense_Mutation	SNP	68049816	68049816	4103	8	G	T	T	43	43	CSPP1	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77616580	77616580	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77616580C>T	uc003yav.2	+	2	644	c.257C>T	c.(256-258)GCC>GTC	p.A86V	ZFHX4_uc003yat.1_Missense_Mutation_p.A86V|ZFHX4_uc003yau.1_Missense_Mutation_p.A86V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A86V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	86						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	77616580	77616580	18223	8	C	T	T	26	26	ZFHX4	T	2	2
CNBD1	168975	broad.mit.edu	37	8	87917320	87917320	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87917320G>A	uc003ydy.2	+	3	218	c.170G>A	c.(169-171)AGC>AAC	p.S57N		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	57										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	87917320	87917320	3729	8	G	A	A	34	34	CNBD1	A	2	2
VPS13B	157680	broad.mit.edu	37	8	100821701	100821701	+	Missense_Mutation	SNP	G	T	T	rs145899918		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100821701G>T	uc003yiv.2	+	44	8226	c.8115G>T	c.(8113-8115)AGG>AGT	p.R2705S	VPS13B_uc003yiw.2_Missense_Mutation_p.R2680S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2705					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---	capture		Missense_Mutation	SNP	100821701	100821701	17757	8	G	T	T	43	43	VPS13B	T	2	2
KLF10	7071	broad.mit.edu	37	8	103664217	103664217	+	Missense_Mutation	SNP	A	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103664217A>C	uc011lhk.1	-	3	497	c.343T>G	c.(343-345)TCT>GCT	p.S115A	KLF10_uc011lhj.1_Missense_Mutation_p.S104A	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	115					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)													OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	103664217	103664217	8650	8	A	C	C	12	12	KLF10	C	4	4
EIF3H	8667	broad.mit.edu	37	8	117669519	117669519	+	Silent	SNP	T	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117669519T>C	uc003yoa.2	-	4	518	c.492A>G	c.(490-492)CTA>CTG	p.L164L	EIF3H_uc003yob.2_Silent_p.L178L	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	164					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)																	---	---	---	---	capture		Silent	SNP	117669519	117669519	5209	8	T	C	C	61	61	EIF3H	C	4	4
TG	7038	broad.mit.edu	37	8	133925455	133925455	+	Silent	SNP	G	C	C	rs141350511		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133925455G>C	uc003ytw.2	+	20	4364	c.4323G>C	c.(4321-4323)TCG>TCC	p.S1441S	TG_uc010mdw.2_Silent_p.S200S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1441					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		Silent	SNP	133925455	133925455	16341	8	G	C	C	39	39	TG	C	3	3
FAM135B	51059	broad.mit.edu	37	8	139149433	139149433	+	Silent	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139149433G>T	uc003yuy.2	-	19	4143	c.3972C>A	c.(3970-3972)GCC>GCA	p.A1324A	FAM135B_uc003yux.2_Silent_p.A1225A|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1324										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Silent	SNP	139149433	139149433	5646	8	G	T	T	47	47	FAM135B	T	2	2
FAM135B	51059	broad.mit.edu	37	8	139190828	139190828	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139190828G>T	uc003yuy.2	-	10	1150	c.979C>A	c.(979-981)CTG>ATG	p.L327M	FAM135B_uc003yux.2_Missense_Mutation_p.L228M|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	327										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	139190828	139190828	5646	8	G	T	T	33	33	FAM135B	T	2	2
COL22A1	169044	broad.mit.edu	37	8	139603721	139603721	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139603721G>T	uc003yvd.2	-	64	5086	c.4639C>A	c.(4639-4641)CCA>ACA	p.P1547T	COL22A1_uc011ljo.1_Missense_Mutation_p.P827T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1547	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	SNP	139603721	139603721	3819	8	G	T	T	43	43	COL22A1	T	2	2
COL22A1	169044	broad.mit.edu	37	8	139825186	139825186	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139825186C>T	uc003yvd.2	-	8	1769	c.1322G>A	c.(1321-1323)GGT>GAT	p.G441D		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	441					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	SNP	139825186	139825186	3819	8	C	T	T	18	18	COL22A1	T	2	2
FAM83H	286077	broad.mit.edu	37	8	144809619	144809619	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144809619C>A	uc003yzk.2	-	5	2081	c.2012G>T	c.(2011-2013)CGC>CTC	p.R671L	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	671					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---	capture		Missense_Mutation	SNP	144809619	144809619	5866	8	C	A	A	27	27	FAM83H	A	1	1
NFKBIL2	4796	broad.mit.edu	37	8	145659530	145659530	+	Missense_Mutation	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145659530C>A	uc011llg.1	-	21	3233	c.3218G>T	c.(3217-3219)CGG>CTG	p.R1073L	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1073	LRR 1.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---	capture		Missense_Mutation	SNP	145659530	145659530	10782	8	C	A	A	23	23	NFKBIL2	A	1	1
MLLT3	4300	broad.mit.edu	37	9	20413751	20413751	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20413751C>G	uc003zoe.2	-	5	1352	c.1093G>C	c.(1093-1095)GAT>CAT	p.D365H	MLLT3_uc011lne.1_Missense_Mutation_p.D333H|MLLT3_uc011lnf.1_Missense_Mutation_p.D362H|MLLT3_uc003zof.2_Missense_Mutation_p.D166H	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)				T	MLL	ALL								---	---	---	---	capture		Missense_Mutation	SNP	20413751	20413751	10018	9	C	G	G	32	32	MLLT3	G	3	3
LINGO2	158038	broad.mit.edu	37	9	27949218	27949218	+	Silent	SNP	G	T	T	rs150860330		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27949218G>T	uc003zqu.1	-	2	1646	c.1452C>A	c.(1450-1452)ATC>ATA	p.I484I	LINGO2_uc010mjf.1_Silent_p.I484I|LINGO2_uc003zqv.1_Silent_p.I484I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	484	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)														---	---	---	---	capture		Silent	SNP	27949218	27949218	9142	9	G	T	T	37	37	LINGO2	T	1	1
PRKACG	5568	broad.mit.edu	37	9	71628641	71628641	+	Missense_Mutation	SNP	T	C	C	rs145926335		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71628641T>C	uc004agy.2	-	1	399	c.368A>G	c.(367-369)TAC>TGC	p.Y123C		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	123	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	71628641	71628641	12942	9	T	C	C	57	57	PRKACG	C	4	4
GDA	9615	broad.mit.edu	37	9	74842916	74842916	+	Nonsense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74842916C>T	uc004aiq.2	+	9	1063	c.880C>T	c.(880-882)CGA>TGA	p.R294*	GDA_uc011lse.1_Nonsense_Mutation_p.R220*|GDA_uc011lsf.1_Nonsense_Mutation_p.R220*|GDA_uc004air.2_Nonsense_Mutation_p.R294*|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Nonsense_Mutation_p.R216*|GDA_uc004ait.1_Nonsense_Mutation_p.R220*	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	294					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)														---	---	---	---	capture		Nonsense_Mutation	SNP	74842916	74842916	6573	9	C	T	T	19	19	GDA	T	5	1
C9orf79	286234	broad.mit.edu	37	9	90503242	90503242	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90503242C>A	uc004app.3	+	4	3875	c.3840C>A	c.(3838-3840)GGC>GGA	p.G1280G		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1280						integral to membrane				ovary(3)	3																		---	---	---	---	capture		Silent	SNP	90503242	90503242	2613	9	C	A	A	25	25	C9orf79	A	2	2
NFIL3	4783	broad.mit.edu	37	9	94172985	94172985	+	Missense_Mutation	SNP	T	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172985T>A	uc004arh.2	-	2	427	c.32A>T	c.(31-33)AAG>ATG	p.K11M		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	11					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	94172985	94172985	10773	9	T	A	A	56	56	NFIL3	A	4	4
RNF20	56254	broad.mit.edu	37	9	104297792	104297792	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104297792G>A	uc004bbn.2	+	2	177	c.87G>A	c.(85-87)GGG>GGA	p.G29G		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	29					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)														---	---	---	---	capture		Silent	SNP	104297792	104297792	13951	9	G	A	A	41	41	RNF20	A	2	2
PRDM12	59335	broad.mit.edu	37	9	133542181	133542181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133542181G>A	uc004bzt.1	+	2	470	c.410G>A	c.(409-411)TGG>TAG	p.W137*		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	137	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)														---	---	---	---	capture		Nonsense_Mutation	SNP	133542181	133542181	12895	9	G	A	A	47	47	PRDM12	A	5	2
ABL1	25	broad.mit.edu	37	9	133750280	133750280	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133750280G>T	uc004bzw.2	+	7	1114	c.1111G>T	c.(1111-1113)GTA>TTA	p.V371L	ABL1_uc004bzv.2_Missense_Mutation_p.V390L	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	371	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.V371A(1)		haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								---	---	---	---	capture		Missense_Mutation	SNP	133750280	133750280	93	9	G	T	T	44	44	ABL1	T	2	2
TTF1	7270	broad.mit.edu	37	9	135251316	135251316	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135251316G>A	uc004cbl.2	-	11	2756	c.2704C>T	c.(2704-2706)CGG>TGG	p.R902W	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R387W	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	902					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)														---	---	---	---	capture		Missense_Mutation	SNP	135251316	135251316	17273	9	G	A	A	39	39	TTF1	A	1	1
TSC1	7248	broad.mit.edu	37	9	135772037	135772037	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135772037C>T	uc004cca.2	-	23	3314	c.3080G>A	c.(3079-3081)CGG>CAG	p.R1027Q	TSC1_uc004ccb.3_Missense_Mutation_p.R1026Q|TSC1_uc011mcq.1_Missense_Mutation_p.R976Q|TSC1_uc011mcr.1_Missense_Mutation_p.G220R	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1027					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---	capture		Missense_Mutation	SNP	135772037	135772037	17156	9	C	T	T	23	23	TSC1	T	1	1
SURF4	6836	broad.mit.edu	37	9	136234199	136234199	+	Silent	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136234199G>A	uc004cdj.2	-	2	301	c.171C>T	c.(169-171)ACC>ACT	p.T57T	SURF4_uc011mda.1_Silent_p.T48T|SURF4_uc010nal.2_Silent_p.T89T|SURF4_uc011mdb.1_Silent_p.T14T|SURF4_uc011mdc.1_Silent_p.T14T|SURF4_uc011mdd.1_Silent_p.T57T	NM_033161	NP_149351	O15260	SURF4_HUMAN	surfeit 4	57						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)														---	---	---	---	capture		Silent	SNP	136234199	136234199	15925	9	G	A	A	47	47	SURF4	A	2	2
MAGEB6	158809	broad.mit.edu	37	X	26212893	26212893	+	Missense_Mutation	SNP	C	G	G			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212893C>G	uc004dbr.2	+	2	1079	c.930C>G	c.(928-930)TTC>TTG	p.F310L	MAGEB6_uc010ngc.1_Missense_Mutation_p.F90L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	310	MAGE.									ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	26212893	26212893	9560	23	C	G	G	30	30	MAGEB6	G	3	3
DGKK	139189	broad.mit.edu	37	X	50213033	50213033	+	Silent	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50213033C>T	uc010njr.1	-	1	705	c.645G>A	c.(643-645)AAG>AAA	p.K215K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	215					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---	capture		Silent	SNP	50213033	50213033	4651	23	C	T	T	24	24	DGKK	T	2	2
TRO	7216	broad.mit.edu	37	X	54955360	54955360	+	Missense_Mutation	SNP	G	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54955360G>A	uc004dtq.2	+	12	2310	c.2203G>A	c.(2203-2205)GAT>AAT	p.D735N	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D266N|TRO_uc004dtw.2_Missense_Mutation_p.D338N|TRO_uc004dtx.2_Missense_Mutation_p.D118N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	735					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	54955360	54955360	17125	23	G	A	A	37	37	TRO	A	1	1
MTMR8	55613	broad.mit.edu	37	X	63488712	63488712	+	Missense_Mutation	SNP	T	C	C	rs137876373		TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63488712T>C	uc004dvs.2	-	14	1888	c.1820A>G	c.(1819-1821)GAC>GGC	p.D607G	MTMR8_uc011mou.1_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	607						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	63488712	63488712	10342	23	T	C	C	58	58	MTMR8	C	4	4
LAS1L	81887	broad.mit.edu	37	X	64749594	64749594	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64749594G>C	uc004dwa.1	-	5	751	c.679C>G	c.(679-681)CCA>GCA	p.P227A	LAS1L_uc004dwc.1_Missense_Mutation_p.P227A|LAS1L_uc004dwd.1_Missense_Mutation_p.P185A	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	227						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	64749594	64749594	8959	23	G	C	C	44	44	LAS1L	C	3	3
PHKA1	5255	broad.mit.edu	37	X	71830999	71830999	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71830999C>T	uc004eax.3	-	22	2706	c.2405G>A	c.(2404-2406)CGG>CAG	p.R802Q	PHKA1_uc004eay.3_Missense_Mutation_p.R802Q|PHKA1_uc011mqi.1_Missense_Mutation_p.R743Q	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	802					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R802W(1)		ovary(3)|skin(1)	4	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	71830999	71830999	12267	23	C	T	T	23	23	PHKA1	T	1	1
MAGEE1	57692	broad.mit.edu	37	X	75650025	75650025	+	Missense_Mutation	SNP	C	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75650025C>T	uc004ecm.1	+	1	1909	c.1702C>T	c.(1702-1704)CCC>TCC	p.P568S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	568	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	75650025	75650025	9568	23	C	T	T	26	26	MAGEE1	T	2	2
PCDH11X	27328	broad.mit.edu	37	X	91134115	91134115	+	Missense_Mutation	SNP	A	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91134115A>T	uc004efk.1	+	2	3721	c.2876A>T	c.(2875-2877)AAG>ATG	p.K959M	PCDH11X_uc004efl.1_Missense_Mutation_p.K959M|PCDH11X_uc004efo.1_Missense_Mutation_p.K959M|PCDH11X_uc010nmv.1_Missense_Mutation_p.K959M|PCDH11X_uc004efm.1_Missense_Mutation_p.K959M|PCDH11X_uc004efn.1_Missense_Mutation_p.K959M|PCDH11X_uc004efh.1_Missense_Mutation_p.K959M|PCDH11X_uc004efj.1_Missense_Mutation_p.K959M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	959	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	91134115	91134115	11928	23	A	T	T	3	3	PCDH11X	T	4	4
GUCY2F	2986	broad.mit.edu	37	X	108625392	108625392	+	Silent	SNP	C	A	A			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108625392C>A	uc004eod.3	-	17	3381	c.3105G>T	c.(3103-3105)CTG>CTT	p.L1035L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	1035	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8																		---	---	---	---	capture		Silent	SNP	108625392	108625392	7178	23	C	A	A	29	29	GUCY2F	A	2	2
SPANXN2	494119	broad.mit.edu	37	X	142795233	142795233	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142795233G>T	uc004fbz.2	-	2	1199	c.445C>A	c.(445-447)CAG>AAG	p.Q149K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	149										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	142795233	142795233	15499	23	G	T	T	48	48	SPANXN2	T	2	2
SPANXN2	494119	broad.mit.edu	37	X	142795311	142795311	+	Missense_Mutation	SNP	G	T	T			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142795311G>T	uc004fbz.2	-	2	1121	c.367C>A	c.(367-369)CAG>AAG	p.Q123K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	123										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	142795311	142795311	15499	23	G	T	T	48	48	SPANXN2	T	2	2
IRAK1	3654	broad.mit.edu	37	X	153279561	153279561	+	Missense_Mutation	SNP	G	C	C			TCGA-39-5016-01	TCGA-39-5016-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153279561G>C	uc004fjs.1	-	11	1550	c.1471C>G	c.(1471-1473)CTG>GTG	p.L491V	IRAK1_uc004fjr.1_Missense_Mutation_p.L491V|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.L517V	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	491	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	153279561	153279561	8124	23	G	C	C	35	35	IRAK1	C	3	3
